Incidental Mutation 'R9709:Nrap'
| ID |
730030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrap
|
| Ensembl Gene |
ENSMUSG00000049134 |
| Gene Name |
nebulin-related anchoring protein |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9709 (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 56317452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1433
(K1433N)
|
| 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: K1398N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048364
Gene: ENSMUSG00000049134
AA Change: K1398N
| 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: K1433N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073228
Gene: ENSMUSG00000049134
AA Change: K1433N
| 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: K1316N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093640
Gene: ENSMUSG00000049134
AA Change: K1316N
| 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: K1397N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132582
Gene: ENSMUSG00000049134
AA Change: K1397N
| 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 |
possibly damaging
Transcript: ENSMUST00000167239
AA Change: K1398N
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128196
Gene: ENSMUSG00000049134
AA Change: K1398N
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,530,356 (GRCm39) |
S25P |
unknown |
Het |
| 4921539E11Rik |
A |
G |
4: 103,092,678 (GRCm39) |
I268T |
unknown |
Het |
| 4930507D05Rik |
T |
A |
10: 62,285,581 (GRCm39) |
C102S |
unknown |
Het |
| Abca14 |
T |
A |
7: 119,888,739 (GRCm39) |
Y1228* |
probably null |
Het |
| Abca17 |
T |
C |
17: 24,517,934 (GRCm39) |
I792V |
probably benign |
Het |
| Abca6 |
C |
A |
11: 110,102,589 (GRCm39) |
L878F |
probably benign |
Het |
| Adk |
C |
A |
14: 21,126,386 (GRCm39) |
T4N |
probably benign |
Het |
| Ankrd40cl |
G |
A |
11: 94,175,560 (GRCm39) |
S65N |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,611,140 (GRCm39) |
F1264I |
probably damaging |
Het |
| Atl3 |
T |
G |
19: 7,507,921 (GRCm39) |
S358A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,271,187 (GRCm39) |
Y248F |
probably damaging |
Het |
| Bcas3 |
T |
C |
11: 85,474,749 (GRCm39) |
V785A |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,860,201 (GRCm39) |
|
probably null |
Het |
| Cdc42se2 |
A |
G |
11: 54,614,417 (GRCm39) |
F47L |
probably benign |
Het |
| Cfap58 |
T |
C |
19: 47,963,992 (GRCm39) |
L540P |
probably damaging |
Het |
| Copg1 |
A |
G |
6: 87,868,957 (GRCm39) |
E117G |
probably benign |
Het |
| Cstpp1 |
T |
C |
2: 91,112,099 (GRCm39) |
Q250R |
probably benign |
Het |
| Cul2 |
C |
T |
18: 3,431,560 (GRCm39) |
T655M |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,412,429 (GRCm39) |
Q161R |
probably benign |
Het |
| Dffb |
T |
C |
4: 154,059,121 (GRCm39) |
Y52C |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,591,198 (GRCm39) |
Q249R |
probably benign |
Het |
| Dnmt3a |
T |
A |
12: 3,957,701 (GRCm39) |
I894N |
probably damaging |
Het |
| Fshr |
G |
A |
17: 89,293,265 (GRCm39) |
T471I |
probably damaging |
Het |
| Gabpb1 |
C |
T |
2: 126,500,488 (GRCm39) |
V4I |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,542 (GRCm39) |
Q348R |
probably damaging |
Het |
| Gm21149 |
G |
A |
5: 15,677,110 (GRCm39) |
S248F |
unknown |
Het |
| Gpr152 |
C |
A |
19: 4,192,640 (GRCm39) |
H60Q |
probably benign |
Het |
| Hdac9 |
A |
G |
12: 34,362,602 (GRCm39) |
S612P |
probably benign |
Het |
| Hhipl2 |
A |
G |
1: 183,199,747 (GRCm39) |
D102G |
possibly damaging |
Het |
| Hspa9 |
A |
G |
18: 35,073,294 (GRCm39) |
V530A |
possibly damaging |
Het |
| Igfbp7 |
T |
C |
5: 77,549,384 (GRCm39) |
N173S |
unknown |
Het |
| Ighv1-75 |
A |
G |
12: 115,797,791 (GRCm39) |
S44P |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Itgax |
G |
T |
7: 127,735,500 (GRCm39) |
G523W |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,637,587 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
T |
C |
1: 15,780,523 (GRCm39) |
I465T |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,279,228 (GRCm39) |
V1478A |
probably damaging |
Het |
| Ky |
A |
T |
9: 102,419,411 (GRCm39) |
I473F |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,666,034 (GRCm39) |
V25A |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,657,135 (GRCm39) |
T751A |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 80,786,154 (GRCm39) |
E587G |
probably damaging |
Het |
| Lvrn |
A |
C |
18: 47,006,847 (GRCm39) |
|
probably null |
Het |
| Mast2 |
A |
T |
4: 116,173,044 (GRCm39) |
C594S |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,910,711 (GRCm39) |
V644A |
probably damaging |
Het |
| Mcm5 |
T |
C |
8: 75,842,604 (GRCm39) |
Y293H |
probably damaging |
Het |
| Mthfd2 |
A |
T |
6: 83,283,665 (GRCm39) |
V339E |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,590,644 (GRCm39) |
I881F |
|
Het |
| Myo7a |
A |
G |
7: 97,743,536 (GRCm39) |
S372P |
possibly damaging |
Het |
| Nbea |
T |
A |
3: 55,693,879 (GRCm39) |
K2180* |
probably null |
Het |
| Neb |
T |
C |
2: 52,101,507 (GRCm39) |
D4621G |
probably damaging |
Het |
| Nefh |
C |
T |
11: 4,890,042 (GRCm39) |
S859N |
probably benign |
Het |
| Nek2 |
T |
A |
1: 191,563,289 (GRCm39) |
H384Q |
possibly damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,782 (GRCm39) |
E645G |
probably benign |
Het |
| Nin |
G |
T |
12: 70,149,468 (GRCm39) |
P47Q |
|
Het |
| Nit1 |
C |
A |
1: 171,171,307 (GRCm39) |
K178N |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,457,463 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Or2a14 |
G |
T |
6: 43,130,469 (GRCm39) |
V77F |
possibly damaging |
Het |
| Pde1b |
A |
G |
15: 103,411,985 (GRCm39) |
K29E |
probably benign |
Het |
| Pheta2 |
G |
T |
15: 82,227,537 (GRCm39) |
D19Y |
probably damaging |
Het |
| Pheta2 |
C |
G |
15: 82,227,535 (GRCm39) |
A18G |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,687 (GRCm39) |
Y1067N |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,799,016 (GRCm39) |
G2249S |
probably damaging |
Het |
| Plppr4 |
T |
A |
3: 117,121,976 (GRCm39) |
T201S |
possibly damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,678 (GRCm39) |
T3A |
probably benign |
Het |
| Polr1has |
A |
T |
17: 37,275,249 (GRCm39) |
R7S |
probably benign |
Het |
| Pou6f2 |
G |
T |
13: 18,414,389 (GRCm39) |
Q129K |
unknown |
Het |
| Ppil4 |
T |
A |
10: 7,675,341 (GRCm39) |
D163E |
probably benign |
Het |
| Pradc1 |
A |
G |
6: 85,424,952 (GRCm39) |
F82L |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,194,414 (GRCm39) |
K784R |
probably null |
Het |
| Ptgs1 |
C |
A |
2: 36,141,204 (GRCm39) |
S550R |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,711,030 (GRCm39) |
L153P |
probably damaging |
Het |
| Rgs10 |
A |
C |
7: 127,975,729 (GRCm39) |
F146C |
probably damaging |
Het |
| Rimbp2 |
G |
A |
5: 128,874,875 (GRCm39) |
P239S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,112,255 (GRCm39) |
Y1199H |
unknown |
Het |
| Rrp12 |
A |
T |
19: 41,857,231 (GRCm39) |
M1181K |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,570,982 (GRCm39) |
N279S |
probably benign |
Het |
| Sbf2 |
G |
T |
7: 110,027,514 (GRCm39) |
P494Q |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,509,693 (GRCm39) |
T281A |
probably benign |
Het |
| Scube2 |
A |
T |
7: 109,430,971 (GRCm39) |
N409K |
probably damaging |
Het |
| Serpina3m |
A |
C |
12: 104,359,008 (GRCm39) |
D340A |
probably damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,367,200 (GRCm39) |
I111T |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,038,574 (GRCm39) |
T443I |
possibly damaging |
Het |
| Sis |
T |
A |
3: 72,799,074 (GRCm39) |
Y1726F |
possibly damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,374,321 (GRCm39) |
L129P |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,527,729 (GRCm39) |
F342I |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,188,205 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
T |
C |
7: 73,952,957 (GRCm39) |
E534G |
possibly damaging |
Het |
| Smok2b |
A |
T |
17: 13,454,052 (GRCm39) |
I71F |
possibly damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,711,809 (GRCm39) |
H18L |
probably damaging |
Het |
| Tmem151a |
A |
T |
19: 5,131,876 (GRCm39) |
Y443* |
probably null |
Het |
| Tnks1bp1 |
T |
G |
2: 84,902,125 (GRCm39) |
S1674A |
probably benign |
Het |
| Trappc11 |
T |
A |
8: 47,946,348 (GRCm39) |
I1095F |
probably damaging |
Het |
| Trim11 |
A |
G |
11: 58,872,864 (GRCm39) |
R183G |
possibly damaging |
Het |
| Trim29 |
A |
G |
9: 43,231,797 (GRCm39) |
D348G |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,433,637 (GRCm39) |
S2224C |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,875,915 (GRCm39) |
V1537M |
|
Het |
| Zfp1005 |
T |
A |
2: 150,110,305 (GRCm39) |
C332S |
possibly damaging |
Het |
| Zfp184 |
A |
G |
13: 22,143,665 (GRCm39) |
D457G |
possibly 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 |
|
R7313:Nrap
|
UTSW |
19 |
56,330,700 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- TGGGAAAGGCTCAAGCTTTC -3'
(R):5'- ACAAAGGCCTTGCTATTCTTTACTC -3'
Sequencing Primer
(F):5'- GGAAAGGCTCAAGCTTTCCTCTATG -3'
(R):5'- GCCTTGCTATTCTTTACTCTTTGTTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation