Incidental Mutation 'R8810:Nrap'
| ID |
672394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrap
|
| Ensembl Gene |
ENSMUSG00000049134 |
| Gene Name |
nebulin-related anchoring protein |
| Synonyms |
|
| MMRRC Submission |
068725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56308473-56378466 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 56352843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000095947]
[ENSMUST00000166203]
[ENSMUST00000167239]
|
| AlphaFold |
Q80XB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040711
|
| SMART Domains |
Protein: ENSMUSP00000048364
Gene: ENSMUSG00000049134
| 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 benign
Transcript: ENSMUST00000073536
|
| SMART Domains |
Protein: ENSMUSP00000073228
Gene: ENSMUSG00000049134
| 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 benign
Transcript: ENSMUST00000095947
|
| SMART Domains |
Protein: ENSMUSP00000093640
Gene: ENSMUSG00000049134
| 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 benign
Transcript: ENSMUST00000166203
|
| SMART Domains |
Protein: ENSMUSP00000132582
Gene: ENSMUSG00000049134
| 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 benign
Transcript: ENSMUST00000167239
|
| SMART Domains |
Protein: ENSMUSP00000128196
Gene: ENSMUSG00000049134
| 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: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
99% (82/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,749,452 (GRCm39) |
S1408P |
probably damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,169 (GRCm39) |
V783A |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,525,504 (GRCm39) |
N525S |
probably damaging |
Het |
| Aqp1 |
C |
T |
6: 55,313,606 (GRCm39) |
T44M |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,053,585 (GRCm39) |
Y1305H |
probably damaging |
Het |
| Atg2a |
T |
G |
19: 6,300,651 (GRCm39) |
S743A |
probably benign |
Het |
| AW551984 |
G |
T |
9: 39,511,307 (GRCm39) |
L133I |
probably damaging |
Het |
| Bahcc1 |
C |
A |
11: 120,164,587 (GRCm39) |
P802T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,743,002 (GRCm39) |
V288L |
probably benign |
Het |
| Carmil2 |
T |
C |
8: 106,412,947 (GRCm39) |
|
probably null |
Het |
| Catspere2 |
G |
A |
1: 177,905,048 (GRCm39) |
E153K |
possibly damaging |
Het |
| Ccdc162 |
C |
T |
10: 41,542,737 (GRCm39) |
R379Q |
probably benign |
Het |
| Cd200l1 |
T |
C |
16: 45,264,199 (GRCm39) |
T120A |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,341,136 (GRCm39) |
L116P |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,796,076 (GRCm39) |
H260Q |
possibly damaging |
Het |
| Cenpq |
A |
G |
17: 41,244,027 (GRCm39) |
V17A |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,803,862 (GRCm39) |
K1074E |
probably damaging |
Het |
| Chil4 |
C |
A |
3: 106,109,121 (GRCm39) |
C394F |
probably damaging |
Het |
| Chst9 |
T |
C |
18: 15,850,983 (GRCm39) |
I28V |
probably benign |
Het |
| Clasp2 |
C |
A |
9: 113,728,649 (GRCm39) |
N873K |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,158,269 (GRCm39) |
M45K |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,200,048 (GRCm39) |
T3427S |
possibly damaging |
Het |
| Cnih4 |
A |
G |
1: 180,989,777 (GRCm39) |
Y130C |
probably damaging |
Het |
| Cpne9 |
T |
A |
6: 113,281,506 (GRCm39) |
M529K |
probably damaging |
Het |
| Crppa |
A |
T |
12: 36,440,481 (GRCm39) |
N130Y |
probably damaging |
Het |
| Ctsr |
T |
A |
13: 61,309,639 (GRCm39) |
Y190F |
probably damaging |
Het |
| Cyp2j13 |
G |
A |
4: 95,945,153 (GRCm39) |
H351Y |
probably benign |
Het |
| Dixdc1 |
T |
A |
9: 50,613,265 (GRCm39) |
Q230L |
probably damaging |
Het |
| Dpep1 |
A |
T |
8: 123,926,764 (GRCm39) |
I226F |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,805,721 (GRCm39) |
N3076I |
unknown |
Het |
| Ehd2 |
A |
G |
7: 15,691,603 (GRCm39) |
V243A |
probably benign |
Het |
| Etnk2 |
T |
A |
1: 133,306,232 (GRCm39) |
Y353N |
probably benign |
Het |
| Fgg |
G |
T |
3: 82,920,322 (GRCm39) |
G367V |
probably damaging |
Het |
| Gm9772 |
T |
C |
17: 22,225,310 (GRCm39) |
*61Q |
probably null |
Het |
| Grk5 |
T |
G |
19: 61,078,432 (GRCm39) |
D496E |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,909,535 (GRCm39) |
N915S |
probably benign |
Het |
| Iah1 |
G |
T |
12: 21,367,388 (GRCm39) |
Q31H |
probably benign |
Het |
| Insr |
T |
C |
8: 3,219,714 (GRCm39) |
D936G |
probably benign |
Het |
| Ints6 |
A |
C |
14: 62,939,902 (GRCm39) |
V596G |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,915,677 (GRCm39) |
D113G |
possibly damaging |
Het |
| Kdm4b |
A |
T |
17: 56,706,771 (GRCm39) |
I928F |
probably damaging |
Het |
| Lrrc41 |
C |
T |
4: 115,932,488 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
G |
A |
8: 4,285,070 (GRCm39) |
V432I |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,458,501 (GRCm39) |
E336G |
probably benign |
Het |
| Maml2 |
C |
A |
9: 13,532,918 (GRCm39) |
Q711K |
|
Het |
| Map3k14 |
T |
C |
11: 103,118,498 (GRCm39) |
T563A |
possibly damaging |
Het |
| Mcu |
T |
A |
10: 59,303,535 (GRCm39) |
K101* |
probably null |
Het |
| Mettl22 |
T |
A |
16: 8,303,792 (GRCm39) |
V286E |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,845,516 (GRCm39) |
N1396K |
possibly damaging |
Het |
| Mprip |
T |
C |
11: 59,587,851 (GRCm39) |
|
probably benign |
Het |
| Mrpl51 |
C |
T |
6: 125,170,344 (GRCm39) |
L117F |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,565,758 (GRCm39) |
V356F |
probably damaging |
Het |
| Myo1d |
T |
A |
11: 80,567,758 (GRCm39) |
I241F |
probably benign |
Het |
| Naalad2 |
A |
T |
9: 18,297,230 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
C |
11: 6,552,853 (GRCm39) |
T113A |
probably benign |
Het |
| Or10b1 |
G |
A |
10: 78,356,284 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or2z2 |
T |
C |
11: 58,345,936 (GRCm39) |
T280A |
possibly damaging |
Het |
| Or56b2 |
T |
A |
7: 104,337,387 (GRCm39) |
I55N |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
| Or5w1 |
T |
C |
2: 87,486,591 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or6z3 |
T |
C |
7: 6,463,763 (GRCm39) |
L85P |
probably damaging |
Het |
| Osbpl3 |
T |
C |
6: 50,328,852 (GRCm39) |
D117G |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,773,981 (GRCm39) |
R318* |
probably null |
Het |
| Pcdhb18 |
A |
G |
18: 37,623,374 (GRCm39) |
I235V |
probably benign |
Het |
| Pex16 |
T |
G |
2: 92,209,366 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,248,034 (GRCm39) |
M489L |
probably benign |
Het |
| Pmepa1 |
C |
A |
2: 173,069,628 (GRCm39) |
G271V |
probably damaging |
Het |
| Safb |
A |
G |
17: 56,910,579 (GRCm39) |
E659G |
unknown |
Het |
| Scn9a |
T |
C |
2: 66,332,010 (GRCm39) |
T1289A |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,617,596 (GRCm39) |
D27G |
possibly damaging |
Het |
| Serpina1f |
A |
G |
12: 103,660,240 (GRCm39) |
V14A |
probably benign |
Het |
| Serpinb9b |
C |
A |
13: 33,213,452 (GRCm39) |
T3N |
possibly damaging |
Het |
| Sfxn5 |
C |
T |
6: 85,206,182 (GRCm39) |
M315I |
probably benign |
Het |
| Slc9b2 |
A |
G |
3: 135,035,530 (GRCm39) |
D333G |
probably benign |
Het |
| Sostdc1 |
A |
G |
12: 36,367,229 (GRCm39) |
N135S |
possibly damaging |
Het |
| Spg11 |
T |
G |
2: 121,901,425 (GRCm39) |
D1505A |
probably damaging |
Het |
| Spmip8 |
A |
T |
8: 96,047,883 (GRCm39) |
|
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,869,279 (GRCm39) |
N34S |
probably benign |
Het |
| Tcerg1l |
C |
A |
7: 137,811,526 (GRCm39) |
R556L |
possibly damaging |
Het |
| Tcp11l1 |
T |
C |
2: 104,518,763 (GRCm39) |
K311R |
probably benign |
Het |
| Trbv16 |
T |
G |
6: 41,128,972 (GRCm39) |
F52C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,726,016 (GRCm39) |
R6073S |
unknown |
Het |
| Uba1y |
T |
C |
Y: 828,818 (GRCm39) |
I542T |
possibly damaging |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,082 (GRCm39) |
I192T |
probably benign |
Het |
| Vmn2r67 |
C |
T |
7: 84,786,346 (GRCm39) |
C553Y |
probably damaging |
Het |
| Zdhhc17 |
G |
T |
10: 110,784,121 (GRCm39) |
H452N |
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 |
|
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'- CAGTCATTATTTCTCCAGCAGGTG -3'
(R):5'- ACCAGGCAATGAAGGTTCTTTG -3'
Sequencing Primer
(F):5'- AGGTGGCTGCCATCACATTG -3'
(R):5'- GCAATGAAGGTTCTTTGTCCTGTCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation