Incidental Mutation 'R7313:Nrap'
| ID |
567810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrap
|
| Ensembl Gene |
ENSMUSG00000049134 |
| Gene Name |
nebulin-related anchoring protein |
| Synonyms |
|
| MMRRC Submission |
045411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7313 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56308473-56378466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56330700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1120
(L1120F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000095947]
[ENSMUST00000166203]
[ENSMUST00000167239]
|
| AlphaFold |
Q80XB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040711
AA Change: L1085F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048364
Gene: ENSMUSG00000049134
AA Change: L1085F
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
|
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
|
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
|
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
|
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
|
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
|
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
|
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
|
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
|
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
|
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
|
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
|
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
|
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
|
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
|
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
|
NEBU
|
932 |
962 |
4e-6 |
SMART |
|
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
|
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
|
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
|
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
|
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
|
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
|
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
|
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
|
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
|
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
|
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
|
NEBU
|
1385 |
1415 |
1.76e-2 |
SMART |
|
NEBU
|
1418 |
1448 |
2.09e0 |
SMART |
|
NEBU
|
1453 |
1483 |
6.4e-5 |
SMART |
|
NEBU
|
1489 |
1519 |
8.63e-1 |
SMART |
|
NEBU
|
1527 |
1557 |
1.33e-2 |
SMART |
|
NEBU
|
1562 |
1592 |
1.84e-5 |
SMART |
|
NEBU
|
1593 |
1623 |
7.24e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073536
AA Change: L1120F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073228
Gene: ENSMUSG00000049134
AA Change: L1120F
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
|
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
|
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
|
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
|
NEBU
|
520 |
550 |
1.73e-10 |
SMART |
|
NEBU
|
556 |
586 |
8.12e-7 |
SMART |
|
NEBU
|
590 |
620 |
1.73e-1 |
SMART |
|
NEBU
|
625 |
655 |
2.33e-7 |
SMART |
|
NEBU
|
656 |
686 |
1.49e-5 |
SMART |
|
NEBU
|
690 |
721 |
5.12e-4 |
SMART |
|
NEBU
|
724 |
754 |
8.12e-7 |
SMART |
|
NEBU
|
759 |
789 |
2.64e-6 |
SMART |
|
NEBU
|
795 |
825 |
3.48e-6 |
SMART |
|
NEBU
|
833 |
863 |
2.35e-3 |
SMART |
|
NEBU
|
868 |
898 |
6.11e-2 |
SMART |
|
NEBU
|
899 |
929 |
1.69e-4 |
SMART |
|
NEBU
|
934 |
964 |
3.88e-4 |
SMART |
|
NEBU
|
967 |
997 |
4e-6 |
SMART |
|
NEBU
|
1002 |
1032 |
4.22e-5 |
SMART |
|
NEBU
|
1038 |
1068 |
2.64e-6 |
SMART |
|
NEBU
|
1076 |
1106 |
3.68e-5 |
SMART |
|
NEBU
|
1111 |
1141 |
4.16e-4 |
SMART |
|
NEBU
|
1142 |
1172 |
1.1e-3 |
SMART |
|
NEBU
|
1177 |
1207 |
1.68e1 |
SMART |
|
NEBU
|
1210 |
1240 |
4.59e-6 |
SMART |
|
NEBU
|
1245 |
1275 |
4.06e-7 |
SMART |
|
NEBU
|
1281 |
1311 |
1.99e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.85e-1 |
SMART |
|
NEBU
|
1354 |
1384 |
1.39e-5 |
SMART |
|
NEBU
|
1385 |
1415 |
4.03e-2 |
SMART |
|
NEBU
|
1420 |
1450 |
1.76e-2 |
SMART |
|
NEBU
|
1453 |
1483 |
2.09e0 |
SMART |
|
NEBU
|
1488 |
1518 |
6.4e-5 |
SMART |
|
NEBU
|
1524 |
1554 |
8.63e-1 |
SMART |
|
NEBU
|
1562 |
1592 |
1.33e-2 |
SMART |
|
NEBU
|
1597 |
1627 |
1.84e-5 |
SMART |
|
NEBU
|
1628 |
1658 |
7.24e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095947
AA Change: L1003F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093640
Gene: ENSMUSG00000049134
AA Change: L1003F
| Domain | Start | End | E-Value | Type |
|---|
|
NEBU
|
86 |
115 |
1.2e-6 |
SMART |
|
NEBU
|
120 |
150 |
9.1e-8 |
SMART |
|
NEBU
|
157 |
186 |
1.4e-6 |
SMART |
|
NEBU
|
226 |
255 |
1.8e-8 |
SMART |
|
NEBU
|
264 |
294 |
2.5e-5 |
SMART |
|
NEBU
|
300 |
330 |
7.8e-6 |
SMART |
|
NEBU
|
368 |
398 |
6e-11 |
SMART |
|
NEBU
|
403 |
433 |
1.1e-12 |
SMART |
|
NEBU
|
439 |
469 |
5.2e-9 |
SMART |
|
NEBU
|
473 |
503 |
1.1e-3 |
SMART |
|
NEBU
|
508 |
538 |
1.5e-9 |
SMART |
|
NEBU
|
539 |
569 |
1e-7 |
SMART |
|
NEBU
|
573 |
604 |
3.3e-6 |
SMART |
|
NEBU
|
607 |
637 |
5.4e-9 |
SMART |
|
NEBU
|
642 |
672 |
1.7e-8 |
SMART |
|
NEBU
|
678 |
708 |
2.3e-8 |
SMART |
|
NEBU
|
716 |
746 |
1.5e-5 |
SMART |
|
NEBU
|
751 |
781 |
4.1e-4 |
SMART |
|
NEBU
|
782 |
812 |
1.1e-6 |
SMART |
|
NEBU
|
817 |
847 |
2.6e-6 |
SMART |
|
NEBU
|
850 |
880 |
2.6e-8 |
SMART |
|
NEBU
|
885 |
915 |
2.7e-7 |
SMART |
|
NEBU
|
921 |
951 |
1.7e-8 |
SMART |
|
NEBU
|
959 |
989 |
2.4e-7 |
SMART |
|
NEBU
|
994 |
1024 |
2.7e-6 |
SMART |
|
NEBU
|
1025 |
1055 |
7.2e-6 |
SMART |
|
NEBU
|
1060 |
1090 |
1.1e-1 |
SMART |
|
NEBU
|
1093 |
1123 |
3e-8 |
SMART |
|
NEBU
|
1128 |
1158 |
2.6e-9 |
SMART |
|
NEBU
|
1164 |
1194 |
1.3e-3 |
SMART |
|
NEBU
|
1202 |
1232 |
1.2e-3 |
SMART |
|
NEBU
|
1237 |
1267 |
8.8e-8 |
SMART |
|
NEBU
|
1268 |
1298 |
2.7e-4 |
SMART |
|
NEBU
|
1303 |
1333 |
1.2e-4 |
SMART |
|
NEBU
|
1336 |
1366 |
1.4e-2 |
SMART |
|
NEBU
|
1371 |
1401 |
4.3e-7 |
SMART |
|
NEBU
|
1407 |
1437 |
5.6e-3 |
SMART |
|
NEBU
|
1445 |
1475 |
8.8e-5 |
SMART |
|
NEBU
|
1480 |
1510 |
1.2e-7 |
SMART |
|
NEBU
|
1511 |
1541 |
4.8e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166203
AA Change: L1084F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132582
Gene: ENSMUSG00000049134
AA Change: L1084F
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
|
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
|
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
|
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
|
NEBU
|
520 |
550 |
1.06e-10 |
SMART |
|
NEBU
|
554 |
584 |
1.73e-1 |
SMART |
|
NEBU
|
589 |
619 |
2.33e-7 |
SMART |
|
NEBU
|
620 |
650 |
1.49e-5 |
SMART |
|
NEBU
|
654 |
685 |
5.12e-4 |
SMART |
|
NEBU
|
688 |
718 |
8.12e-7 |
SMART |
|
NEBU
|
723 |
753 |
2.64e-6 |
SMART |
|
NEBU
|
759 |
789 |
3.48e-6 |
SMART |
|
NEBU
|
797 |
827 |
2.35e-3 |
SMART |
|
NEBU
|
832 |
862 |
6.11e-2 |
SMART |
|
NEBU
|
863 |
893 |
1.69e-4 |
SMART |
|
NEBU
|
898 |
928 |
3.88e-4 |
SMART |
|
NEBU
|
931 |
961 |
4e-6 |
SMART |
|
NEBU
|
966 |
996 |
4.22e-5 |
SMART |
|
NEBU
|
1002 |
1032 |
2.64e-6 |
SMART |
|
NEBU
|
1040 |
1070 |
3.68e-5 |
SMART |
|
NEBU
|
1075 |
1105 |
4.16e-4 |
SMART |
|
NEBU
|
1106 |
1136 |
1.1e-3 |
SMART |
|
NEBU
|
1141 |
1171 |
1.68e1 |
SMART |
|
NEBU
|
1174 |
1204 |
4.59e-6 |
SMART |
|
NEBU
|
1209 |
1239 |
4.06e-7 |
SMART |
|
NEBU
|
1245 |
1275 |
1.99e-1 |
SMART |
|
NEBU
|
1283 |
1313 |
1.85e-1 |
SMART |
|
NEBU
|
1318 |
1348 |
1.39e-5 |
SMART |
|
NEBU
|
1349 |
1379 |
4.03e-2 |
SMART |
|
NEBU
|
1384 |
1414 |
1.76e-2 |
SMART |
|
NEBU
|
1417 |
1447 |
2.09e0 |
SMART |
|
NEBU
|
1452 |
1482 |
6.4e-5 |
SMART |
|
NEBU
|
1488 |
1518 |
8.63e-1 |
SMART |
|
NEBU
|
1526 |
1556 |
1.33e-2 |
SMART |
|
NEBU
|
1561 |
1591 |
1.84e-5 |
SMART |
|
NEBU
|
1592 |
1622 |
7.24e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167239
AA Change: L1085F
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128196
Gene: ENSMUSG00000049134
AA Change: L1085F
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
|
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
|
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
|
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
|
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
|
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
|
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
|
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
|
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
|
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
|
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
|
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
|
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
|
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
|
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
|
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
|
NEBU
|
932 |
962 |
4e-6 |
SMART |
|
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
|
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
|
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
|
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
|
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
|
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
|
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
|
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
|
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
|
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
|
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
|
NEBU
|
1385 |
1415 |
3.06e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169099
|
| SMART Domains |
Protein: ENSMUSP00000125889
Gene: ENSMUSG00000049134
| Domain | Start | End | E-Value | Type |
|---|
|
NEBU
|
32 |
61 |
2.83e-6 |
SMART |
|
NEBU
|
70 |
100 |
7.24e-4 |
SMART |
|
NEBU
|
105 |
135 |
3.46e-1 |
SMART |
|
NEBU
|
141 |
171 |
1.18e-3 |
SMART |
|
NEBU
|
209 |
239 |
8.97e-9 |
SMART |
|
NEBU
|
244 |
274 |
1.73e-10 |
SMART |
|
NEBU
|
280 |
310 |
8.12e-7 |
SMART |
|
NEBU
|
314 |
344 |
1.73e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,773,187 (GRCm39) |
N805S |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,178,893 (GRCm39) |
V60A |
probably benign |
Het |
| Adam6b |
A |
G |
12: 113,454,754 (GRCm39) |
I524V |
probably benign |
Het |
| Adamts16 |
C |
T |
13: 70,921,074 (GRCm39) |
W590* |
probably null |
Het |
| Adamts9 |
C |
T |
6: 92,835,102 (GRCm39) |
G1257D |
probably damaging |
Het |
| Adgrf5 |
C |
T |
17: 43,755,974 (GRCm39) |
T644I |
probably benign |
Het |
| Adgrf5 |
T |
G |
17: 43,763,368 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,668,634 (GRCm39) |
T2641A |
possibly damaging |
Het |
| Agap3 |
T |
C |
5: 24,657,382 (GRCm39) |
F60L |
probably benign |
Het |
| Akap9 |
C |
A |
5: 4,054,933 (GRCm39) |
T1626K |
probably damaging |
Het |
| Ampd3 |
C |
A |
7: 110,405,261 (GRCm39) |
D603E |
probably damaging |
Het |
| Angpt4 |
T |
A |
2: 151,767,326 (GRCm39) |
V119E |
probably benign |
Het |
| Atp6v1a |
T |
C |
16: 43,934,980 (GRCm39) |
T70A |
probably benign |
Het |
| B4galt3 |
T |
A |
1: 171,100,319 (GRCm39) |
I163N |
probably damaging |
Het |
| Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
| Btbd19 |
T |
A |
4: 116,978,616 (GRCm39) |
S156C |
probably damaging |
Het |
| Camkk2 |
C |
T |
5: 122,875,574 (GRCm39) |
R492Q |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,330,033 (GRCm39) |
I434V |
probably damaging |
Het |
| Cd4 |
G |
T |
6: 124,844,066 (GRCm39) |
T394K |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,237,517 (GRCm39) |
L1006P |
probably damaging |
Het |
| Crx |
G |
A |
7: 15,601,857 (GRCm39) |
P274S |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,865,107 (GRCm39) |
I1457F |
probably damaging |
Het |
| Cul4a |
C |
A |
8: 13,171,676 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 104,085,910 (GRCm39) |
T196S |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,580,567 (GRCm39) |
E1995G |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,226,021 (GRCm39) |
T353S |
probably damaging |
Het |
| Ect2l |
T |
A |
10: 18,044,149 (GRCm39) |
T329S |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,742,716 (GRCm39) |
S83T |
probably benign |
Het |
| Exosc7 |
A |
G |
9: 122,948,013 (GRCm39) |
T39A |
probably benign |
Het |
| Fam135a |
C |
A |
1: 24,096,473 (GRCm39) |
V91F |
probably damaging |
Het |
| Gab2 |
G |
T |
7: 96,731,005 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
T |
19: 46,268,793 (GRCm39) |
I1408F |
possibly damaging |
Het |
| Glis3 |
C |
T |
19: 28,508,419 (GRCm39) |
E522K |
probably damaging |
Het |
| Gm10375 |
A |
T |
14: 43,842,314 (GRCm39) |
C139S |
possibly damaging |
Het |
| Gm26558 |
T |
C |
2: 70,492,211 (GRCm39) |
E81G |
unknown |
Het |
| Gm35315 |
C |
T |
5: 110,227,091 (GRCm39) |
C116Y |
probably benign |
Het |
| Gm3676 |
T |
A |
14: 41,366,064 (GRCm39) |
I84F |
probably damaging |
Het |
| Gm7145 |
T |
A |
1: 117,913,932 (GRCm39) |
H271Q |
probably damaging |
Het |
| Gpat2 |
T |
A |
2: 127,270,215 (GRCm39) |
I76N |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,685,574 (GRCm39) |
S14T |
unknown |
Het |
| Hlcs |
C |
A |
16: 94,068,362 (GRCm39) |
S286I |
probably damaging |
Het |
| Ighg1 |
A |
T |
12: 113,293,078 (GRCm39) |
F204Y |
|
Het |
| Igsf10 |
T |
C |
3: 59,236,837 (GRCm39) |
I1115V |
probably benign |
Het |
| Klk7 |
A |
T |
7: 43,462,299 (GRCm39) |
H97L |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,754,504 (GRCm39) |
D1605E |
unknown |
Het |
| Leng8 |
T |
A |
7: 4,142,525 (GRCm39) |
I49N |
possibly damaging |
Het |
| Lingo4 |
A |
T |
3: 94,310,451 (GRCm39) |
D463V |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,389,337 (GRCm39) |
N3193I |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,866,111 (GRCm39) |
Y1210F |
probably damaging |
Het |
| Mki67 |
G |
C |
7: 135,296,400 (GRCm39) |
A2878G |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mtcl3 |
T |
A |
10: 29,072,875 (GRCm39) |
Y722* |
probably null |
Het |
| Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
| Myh6 |
A |
T |
14: 55,197,727 (GRCm39) |
D470E |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,266,667 (GRCm39) |
|
probably null |
Het |
| Myo7a |
G |
A |
7: 97,713,402 (GRCm39) |
R1647W |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nmral1 |
C |
T |
16: 4,531,660 (GRCm39) |
M198I |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,184,406 (GRCm39) |
I1267N |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,898,414 (GRCm39) |
P6616S |
unknown |
Het |
| Ocstamp |
T |
G |
2: 165,239,229 (GRCm39) |
D319A |
probably damaging |
Het |
| Ooep |
T |
C |
9: 78,285,433 (GRCm39) |
D61G |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,443,949 (GRCm39) |
S134P |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,810 (GRCm39) |
I135F |
probably damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,995,538 (GRCm39) |
V199A |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,298,856 (GRCm39) |
S104P |
probably damaging |
Het |
| Or7g35 |
A |
G |
9: 19,495,938 (GRCm39) |
Y35C |
probably damaging |
Het |
| Otoa |
A |
G |
7: 120,701,765 (GRCm39) |
E148G |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,894,387 (GRCm39) |
D720V |
unknown |
Het |
| Padi2 |
T |
A |
4: 140,660,079 (GRCm39) |
F294I |
probably damaging |
Het |
| Pcdha7 |
T |
A |
18: 37,107,471 (GRCm39) |
N165K |
probably damaging |
Het |
| Pcdhb6 |
C |
A |
18: 37,468,261 (GRCm39) |
P394H |
probably damaging |
Het |
| Pcdhga6 |
T |
C |
18: 37,841,072 (GRCm39) |
V264A |
possibly damaging |
Het |
| Pik3ap1 |
G |
T |
19: 41,284,815 (GRCm39) |
D623E |
possibly damaging |
Het |
| Prdm10 |
A |
T |
9: 31,268,456 (GRCm39) |
K802* |
probably null |
Het |
| Ptgfrn |
G |
A |
3: 100,980,363 (GRCm39) |
L326F |
possibly damaging |
Het |
| Rgsl1 |
T |
G |
1: 153,683,622 (GRCm39) |
|
probably null |
Het |
| Rock1 |
T |
G |
18: 10,129,317 (GRCm39) |
T347P |
possibly damaging |
Het |
| Rprd2 |
G |
A |
3: 95,684,022 (GRCm39) |
P338S |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,923,377 (GRCm39) |
N333Y |
probably damaging |
Het |
| Setd4 |
T |
A |
16: 93,388,132 (GRCm39) |
H118L |
probably benign |
Het |
| Sirt3 |
G |
A |
7: 140,458,039 (GRCm39) |
P37S |
|
Het |
| Slc16a9 |
G |
T |
10: 70,119,000 (GRCm39) |
G440W |
probably damaging |
Het |
| Slc22a23 |
T |
A |
13: 34,367,161 (GRCm39) |
I616F |
probably damaging |
Het |
| Slc30a8 |
A |
C |
15: 52,180,707 (GRCm39) |
D102A |
probably damaging |
Het |
| Slc6a4 |
T |
A |
11: 76,901,527 (GRCm39) |
D87E |
possibly damaging |
Het |
| Slc9a4 |
A |
C |
1: 40,668,663 (GRCm39) |
T769P |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,431,762 (GRCm39) |
Y685F |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,450,390 (GRCm39) |
Q2560K |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,256,827 (GRCm39) |
L206Q |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,183 (GRCm39) |
Y283N |
probably damaging |
Het |
| Sult4a1 |
T |
C |
15: 83,970,814 (GRCm39) |
E197G |
probably damaging |
Het |
| Syne1 |
T |
G |
10: 4,997,635 (GRCm39) |
D444A |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,845 (GRCm39) |
V1425E |
possibly damaging |
Het |
| Tgm4 |
A |
G |
9: 122,891,556 (GRCm39) |
D557G |
probably benign |
Het |
| Tmcc3 |
A |
G |
10: 94,266,434 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
A |
4: 145,000,952 (GRCm39) |
N385Y |
probably benign |
Het |
| Ttc4 |
T |
C |
4: 106,536,017 (GRCm39) |
D15G |
possibly damaging |
Het |
| Tut1 |
A |
G |
19: 8,941,413 (GRCm39) |
N400S |
probably benign |
Het |
| Usp39 |
T |
C |
6: 72,313,413 (GRCm39) |
K259R |
probably benign |
Het |
| Vmn1r215 |
C |
T |
13: 23,260,484 (GRCm39) |
H175Y |
probably benign |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,107 (GRCm39) |
M256K |
probably benign |
Het |
| Zfp128 |
T |
A |
7: 12,624,461 (GRCm39) |
H276Q |
possibly damaging |
Het |
| Zfp276 |
T |
C |
8: 123,994,562 (GRCm39) |
M543T |
probably damaging |
Het |
| Zfp354c |
A |
T |
11: 50,705,483 (GRCm39) |
Y531N |
probably damaging |
Het |
| Zfp532 |
T |
A |
18: 65,756,076 (GRCm39) |
M3K |
probably damaging |
Het |
| Zfp64 |
T |
G |
2: 168,741,810 (GRCm39) |
K373Q |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,990,856 (GRCm39) |
S377N |
probably benign |
Het |
| Zfp983 |
T |
G |
17: 21,880,413 (GRCm39) |
S114A |
probably damaging |
Het |
| Zranb1 |
G |
A |
7: 132,584,481 (GRCm39) |
R583K |
probably damaging |
Het |
|
| Other mutations in Nrap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Nrap
|
APN |
19 |
56,361,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00570:Nrap
|
APN |
19 |
56,326,545 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00946:Nrap
|
APN |
19 |
56,329,058 (GRCm39) |
splice site |
probably null |
|
|
IGL01070:Nrap
|
APN |
19 |
56,317,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Nrap
|
APN |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Nrap
|
APN |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01290:Nrap
|
APN |
19 |
56,350,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01352:Nrap
|
APN |
19 |
56,368,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01372:Nrap
|
APN |
19 |
56,317,534 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01395:Nrap
|
APN |
19 |
56,350,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Nrap
|
APN |
19 |
56,377,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01734:Nrap
|
APN |
19 |
56,338,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Nrap
|
APN |
19 |
56,377,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Nrap
|
APN |
19 |
56,309,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Nrap
|
APN |
19 |
56,370,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02447:Nrap
|
APN |
19 |
56,333,951 (GRCm39) |
nonsense |
probably null |
|
|
IGL02864:Nrap
|
APN |
19 |
56,338,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Nrap
|
APN |
19 |
56,333,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Nrap
|
APN |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Nrap
|
APN |
19 |
56,335,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03084:Nrap
|
APN |
19 |
56,353,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Nrap
|
APN |
19 |
56,330,687 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03272:Nrap
|
APN |
19 |
56,334,000 (GRCm39) |
intron |
probably benign |
|
|
IGL03389:Nrap
|
APN |
19 |
56,340,148 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0116:Nrap
|
UTSW |
19 |
56,343,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Nrap
|
UTSW |
19 |
56,340,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0715:Nrap
|
UTSW |
19 |
56,345,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0828:Nrap
|
UTSW |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Nrap
|
UTSW |
19 |
56,333,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Nrap
|
UTSW |
19 |
56,315,725 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1459:Nrap
|
UTSW |
19 |
56,372,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1616:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Nrap
|
UTSW |
19 |
56,323,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Nrap
|
UTSW |
19 |
56,343,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Nrap
|
UTSW |
19 |
56,323,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1792:Nrap
|
UTSW |
19 |
56,367,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Nrap
|
UTSW |
19 |
56,372,487 (GRCm39) |
unclassified |
probably benign |
|
|
R1972:Nrap
|
UTSW |
19 |
56,345,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Nrap
|
UTSW |
19 |
56,372,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2258:Nrap
|
UTSW |
19 |
56,310,394 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2448:Nrap
|
UTSW |
19 |
56,310,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3034:Nrap
|
UTSW |
19 |
56,352,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Nrap
|
UTSW |
19 |
56,368,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3964:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3966:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Nrap
|
UTSW |
19 |
56,369,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4182:Nrap
|
UTSW |
19 |
56,338,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Nrap
|
UTSW |
19 |
56,339,913 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4573:Nrap
|
UTSW |
19 |
56,330,770 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4603:Nrap
|
UTSW |
19 |
56,323,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4689:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4749:Nrap
|
UTSW |
19 |
56,368,669 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4845:Nrap
|
UTSW |
19 |
56,339,902 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4937:Nrap
|
UTSW |
19 |
56,335,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Nrap
|
UTSW |
19 |
56,366,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5181:Nrap
|
UTSW |
19 |
56,333,960 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5202:Nrap
|
UTSW |
19 |
56,323,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Nrap
|
UTSW |
19 |
56,308,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5301:Nrap
|
UTSW |
19 |
56,367,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Nrap
|
UTSW |
19 |
56,370,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Nrap
|
UTSW |
19 |
56,310,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5631:Nrap
|
UTSW |
19 |
56,342,553 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5754:Nrap
|
UTSW |
19 |
56,377,916 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5799:Nrap
|
UTSW |
19 |
56,330,601 (GRCm39) |
nonsense |
probably null |
|
|
R5899:Nrap
|
UTSW |
19 |
56,329,006 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5910:Nrap
|
UTSW |
19 |
56,330,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5994:Nrap
|
UTSW |
19 |
56,340,031 (GRCm39) |
nonsense |
probably null |
|
|
R6124:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6149:Nrap
|
UTSW |
19 |
56,377,885 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6182:Nrap
|
UTSW |
19 |
56,350,130 (GRCm39) |
missense |
probably benign |
|
|
R6245:Nrap
|
UTSW |
19 |
56,368,307 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6245:Nrap
|
UTSW |
19 |
56,342,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Nrap
|
UTSW |
19 |
56,308,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6274:Nrap
|
UTSW |
19 |
56,350,153 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6340:Nrap
|
UTSW |
19 |
56,335,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Nrap
|
UTSW |
19 |
56,339,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6734:Nrap
|
UTSW |
19 |
56,333,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6770:Nrap
|
UTSW |
19 |
56,370,969 (GRCm39) |
splice site |
probably null |
|
|
R6812:Nrap
|
UTSW |
19 |
56,340,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Nrap
|
UTSW |
19 |
56,368,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Nrap
|
UTSW |
19 |
56,333,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Nrap
|
UTSW |
19 |
56,366,567 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7515:Nrap
|
UTSW |
19 |
56,354,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7662:Nrap
|
UTSW |
19 |
56,308,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7819:Nrap
|
UTSW |
19 |
56,323,720 (GRCm39) |
missense |
probably benign |
|
|
R7836:Nrap
|
UTSW |
19 |
56,338,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7895:Nrap
|
UTSW |
19 |
56,342,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8041:Nrap
|
UTSW |
19 |
56,352,768 (GRCm39) |
nonsense |
probably null |
|
|
R8046:Nrap
|
UTSW |
19 |
56,308,683 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8066:Nrap
|
UTSW |
19 |
56,342,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8129:Nrap
|
UTSW |
19 |
56,355,068 (GRCm39) |
splice site |
probably null |
|
|
R8188:Nrap
|
UTSW |
19 |
56,325,010 (GRCm39) |
nonsense |
probably null |
|
|
R8323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8353:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Nrap
|
UTSW |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Nrap
|
UTSW |
19 |
56,323,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Nrap
|
UTSW |
19 |
56,352,843 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8872:Nrap
|
UTSW |
19 |
56,308,627 (GRCm39) |
makesense |
probably null |
|
|
R8980:Nrap
|
UTSW |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Nrap
|
UTSW |
19 |
56,340,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Nrap
|
UTSW |
19 |
56,310,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9235:Nrap
|
UTSW |
19 |
56,330,760 (GRCm39) |
nonsense |
probably null |
|
|
R9323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9327:Nrap
|
UTSW |
19 |
56,340,100 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9329:Nrap
|
UTSW |
19 |
56,350,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Nrap
|
UTSW |
19 |
56,330,632 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9517:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9639:Nrap
|
UTSW |
19 |
56,333,948 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9657:Nrap
|
UTSW |
19 |
56,352,377 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9709:Nrap
|
UTSW |
19 |
56,317,453 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9709:Nrap
|
UTSW |
19 |
56,317,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0028:Nrap
|
UTSW |
19 |
56,323,652 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Nrap
|
UTSW |
19 |
56,333,949 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Nrap
|
UTSW |
19 |
56,333,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Nrap
|
UTSW |
19 |
56,326,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGCCTGACCTAAAGAGGC -3'
(R):5'- CATCAGTGTCTCCGGTTGATG -3'
Sequencing Primer
(F):5'- AACTGGAGGGTCACTGGC -3'
(R):5'- ATGGGATGGTTGCATCATAGTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation