Incidental Mutation 'R7216:Pbrm1'
| ID |
561503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbrm1
|
| Ensembl Gene |
ENSMUSG00000042323 |
| Gene Name |
polybromo 1 |
| Synonyms |
2310032M22Rik, BAF180, 2610016F04Rik, Pb1 |
| MMRRC Submission |
045288-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7216 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30741095-30843549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30767379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 331
(Y331C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022471]
[ENSMUST00000022474]
[ENSMUST00000052239]
[ENSMUST00000090214]
[ENSMUST00000112092]
[ENSMUST00000112094]
[ENSMUST00000112095]
[ENSMUST00000112098]
[ENSMUST00000123678]
[ENSMUST00000135704]
[ENSMUST00000136237]
[ENSMUST00000146325]
[ENSMUST00000156628]
|
| AlphaFold |
Q8BSQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022471
AA Change: Y331C
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
|
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
|
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
|
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
|
HMG
|
1378 |
1450 |
8.91e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022474
AA Change: Y331C
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
|
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
|
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
|
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
|
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
|
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
|
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
|
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
|
HMG
|
1393 |
1465 |
8.91e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052239
AA Change: Y331C
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
|
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
|
BAH
|
956 |
1049 |
8.64e-22 |
SMART |
|
low complexity region
|
1058 |
1072 |
N/A |
INTRINSIC |
|
BAH
|
1131 |
1247 |
3.02e-35 |
SMART |
|
low complexity region
|
1293 |
1310 |
N/A |
INTRINSIC |
|
HMG
|
1326 |
1396 |
2.87e-13 |
SMART |
|
low complexity region
|
1405 |
1430 |
N/A |
INTRINSIC |
|
low complexity region
|
1449 |
1477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090214
AA Change: Y331C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
|
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
|
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
|
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
|
HMG
|
1378 |
1448 |
1.62e-21 |
SMART |
|
low complexity region
|
1464 |
1475 |
N/A |
INTRINSIC |
|
low complexity region
|
1485 |
1500 |
N/A |
INTRINSIC |
|
low complexity region
|
1512 |
1537 |
N/A |
INTRINSIC |
|
low complexity region
|
1556 |
1584 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112092
AA Change: Y331C
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
|
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
|
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
|
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
|
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
|
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
|
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
|
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
|
HMG
|
1393 |
1463 |
1.62e-21 |
SMART |
|
low complexity region
|
1479 |
1490 |
N/A |
INTRINSIC |
|
low complexity region
|
1519 |
1547 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112094
|
| SMART Domains |
Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
|
BROMO
|
347 |
457 |
1.57e-32 |
SMART |
|
BROMO
|
484 |
595 |
6.07e-39 |
SMART |
|
BROMO
|
619 |
733 |
3.01e-43 |
SMART |
|
BROMO
|
743 |
849 |
2.53e-18 |
SMART |
|
coiled coil region
|
875 |
902 |
N/A |
INTRINSIC |
|
BAH
|
924 |
1042 |
1.33e-45 |
SMART |
|
low complexity region
|
1051 |
1065 |
N/A |
INTRINSIC |
|
BAH
|
1124 |
1240 |
3.02e-35 |
SMART |
|
low complexity region
|
1286 |
1306 |
N/A |
INTRINSIC |
|
HMG
|
1346 |
1416 |
2.87e-13 |
SMART |
|
low complexity region
|
1425 |
1450 |
N/A |
INTRINSIC |
|
low complexity region
|
1469 |
1497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112095
AA Change: Y331C
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
|
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
|
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
|
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
|
HMG
|
1378 |
1448 |
2.87e-13 |
SMART |
|
low complexity region
|
1457 |
1482 |
N/A |
INTRINSIC |
|
low complexity region
|
1501 |
1529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112098
AA Change: Y331C
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
|
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
|
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
|
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
|
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
|
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
|
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
|
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
|
HMG
|
1393 |
1463 |
1.62e-21 |
SMART |
|
low complexity region
|
1479 |
1490 |
N/A |
INTRINSIC |
|
low complexity region
|
1500 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1527 |
1552 |
N/A |
INTRINSIC |
|
low complexity region
|
1571 |
1599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123678
AA Change: Y331C
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120549
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
856 |
2.3e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135704
AA Change: Y275C
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115505
Gene: ENSMUSG00000042323
AA Change: Y275C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
1 |
97 |
3.24e-25 |
SMART |
|
BROMO
|
119 |
233 |
5.84e-41 |
SMART |
|
low complexity region
|
298 |
314 |
N/A |
INTRINSIC |
|
BROMO
|
323 |
433 |
1.57e-32 |
SMART |
|
BROMO
|
475 |
586 |
6.07e-39 |
SMART |
|
BROMO
|
610 |
724 |
3.01e-43 |
SMART |
|
BROMO
|
734 |
840 |
2.53e-18 |
SMART |
|
low complexity region
|
862 |
892 |
N/A |
INTRINSIC |
|
BAH
|
914 |
1032 |
1.33e-45 |
SMART |
|
low complexity region
|
1041 |
1055 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136237
AA Change: Y331C
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119722
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
859 |
7.08e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146325
|
| SMART Domains |
Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
64 |
174 |
4.97e-35 |
SMART |
|
BROMO
|
196 |
310 |
5.84e-41 |
SMART |
|
low complexity region
|
343 |
359 |
N/A |
INTRINSIC |
|
BROMO
|
368 |
478 |
1.57e-32 |
SMART |
|
BROMO
|
505 |
616 |
6.07e-39 |
SMART |
|
BROMO
|
640 |
754 |
3.01e-43 |
SMART |
|
BROMO
|
764 |
870 |
2.53e-18 |
SMART |
|
coiled coil region
|
896 |
923 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156628
AA Change: Y331C
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
|
low complexity region
|
903 |
933 |
N/A |
INTRINSIC |
|
BAH
|
955 |
1073 |
1.33e-45 |
SMART |
|
low complexity region
|
1082 |
1096 |
N/A |
INTRINSIC |
|
BAH
|
1155 |
1271 |
3.02e-35 |
SMART |
|
low complexity region
|
1317 |
1337 |
N/A |
INTRINSIC |
|
HMG
|
1377 |
1447 |
2.87e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,187,240 (GRCm39) |
N1551K |
probably benign |
Het |
| Amy2a1 |
T |
C |
3: 113,324,090 (GRCm39) |
D150G |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,822,839 (GRCm39) |
C165S |
probably benign |
Het |
| Atp2c1 |
A |
T |
9: 105,344,930 (GRCm39) |
D102E |
probably benign |
Het |
| Capn8 |
C |
A |
1: 182,426,363 (GRCm39) |
R233S |
possibly damaging |
Het |
| Cd48 |
T |
C |
1: 171,523,390 (GRCm39) |
S78P |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,475,648 (GRCm39) |
D944E |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,531,771 (GRCm39) |
M678T |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,672,205 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,845,694 (GRCm39) |
V356D |
probably damaging |
Het |
| Copg2 |
A |
T |
6: 30,862,535 (GRCm39) |
D101E |
probably damaging |
Het |
| Cpsf6 |
G |
A |
10: 117,197,928 (GRCm39) |
P229S |
unknown |
Het |
| Dgke |
T |
C |
11: 88,941,163 (GRCm39) |
D340G |
probably benign |
Het |
| Dlg1 |
TAAA |
TAA |
16: 31,615,736 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,186,706 (GRCm39) |
Q1865* |
probably null |
Het |
| Dnajc2 |
C |
T |
5: 21,981,777 (GRCm39) |
R123Q |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,771,375 (GRCm39) |
K2633N |
possibly damaging |
Het |
| Egln2 |
T |
C |
7: 26,859,254 (GRCm39) |
D365G |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,421,621 (GRCm39) |
D287G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,945,192 (GRCm39) |
T1362A |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,525,508 (GRCm39) |
T685A |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,887,173 (GRCm39) |
Y2652H |
probably damaging |
Het |
| Gas2 |
A |
G |
7: 51,547,005 (GRCm39) |
E52G |
possibly damaging |
Het |
| Gm5093 |
A |
T |
17: 46,751,014 (GRCm39) |
D4E |
not run |
Het |
| Gm6370 |
A |
T |
5: 146,430,723 (GRCm39) |
T303S |
probably benign |
Het |
| Gpr161 |
A |
G |
1: 165,134,115 (GRCm39) |
I126V |
probably benign |
Het |
| Gpr63 |
T |
C |
4: 25,008,038 (GRCm39) |
L254P |
probably damaging |
Het |
| H2-M9 |
C |
T |
17: 36,951,594 (GRCm39) |
V294I |
probably benign |
Het |
| Insr |
T |
A |
8: 3,253,034 (GRCm39) |
N375I |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,754,739 (GRCm39) |
N600S |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,274,809 (GRCm39) |
N628S |
probably damaging |
Het |
| Irf2 |
A |
G |
8: 47,246,591 (GRCm39) |
T20A |
probably benign |
Het |
| Irs1 |
T |
A |
1: 82,267,476 (GRCm39) |
T247S |
probably damaging |
Het |
| Islr |
C |
T |
9: 58,064,250 (GRCm39) |
S419N |
unknown |
Het |
| Kcna2 |
T |
A |
3: 107,012,109 (GRCm39) |
I230N |
probably damaging |
Het |
| Kif3c |
C |
A |
12: 3,416,126 (GRCm39) |
A49E |
probably benign |
Het |
| Kifap3 |
A |
T |
1: 163,623,558 (GRCm39) |
K108N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,563,057 (GRCm39) |
F527I |
probably damaging |
Het |
| Layn |
A |
G |
9: 50,988,352 (GRCm39) |
|
probably benign |
Het |
| Lims2 |
G |
T |
18: 32,090,315 (GRCm39) |
W276L |
probably damaging |
Het |
| Lsp1 |
T |
C |
7: 142,042,179 (GRCm39) |
L133S |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 132,974,211 (GRCm39) |
V536G |
probably damaging |
Het |
| Med7 |
T |
A |
11: 46,331,681 (GRCm39) |
L92H |
probably damaging |
Het |
| Mllt1 |
A |
G |
17: 57,234,042 (GRCm39) |
V48A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,860,290 (GRCm39) |
R1650G |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,801,088 (GRCm39) |
V1153E |
probably damaging |
Het |
| Nkx2-1 |
A |
C |
12: 56,581,587 (GRCm39) |
C87G |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,436,000 (GRCm39) |
S291P |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,525,790 (GRCm39) |
Q309L |
probably benign |
Het |
| Or13a18 |
A |
T |
7: 140,190,373 (GRCm39) |
N90I |
possibly damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,550 (GRCm39) |
I112F |
probably damaging |
Het |
| Or4e1 |
G |
A |
14: 52,700,945 (GRCm39) |
P174S |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,632 (GRCm39) |
M237K |
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,844,006 (GRCm39) |
R70H |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,719,273 (GRCm39) |
T539S |
probably benign |
Het |
| Plch2 |
T |
G |
4: 155,068,685 (GRCm39) |
T1314P |
probably benign |
Het |
| Polk |
T |
C |
13: 96,644,728 (GRCm39) |
S133G |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,578,399 (GRCm39) |
I220V |
probably damaging |
Het |
| Prdm5 |
A |
T |
6: 65,904,967 (GRCm39) |
K533* |
probably null |
Het |
| Prmt1 |
T |
A |
7: 44,632,997 (GRCm39) |
Q35H |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,401,625 (GRCm39) |
W142R |
probably damaging |
Het |
| Rest |
G |
A |
5: 77,430,455 (GRCm39) |
R958H |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,855,886 (GRCm39) |
G109R |
probably damaging |
Het |
| Sec62 |
C |
T |
3: 30,872,978 (GRCm39) |
Q354* |
probably null |
Het |
| Snx14 |
T |
C |
9: 88,263,844 (GRCm39) |
Y847C |
probably damaging |
Het |
| Sox7 |
A |
T |
14: 64,185,438 (GRCm39) |
D158V |
probably benign |
Het |
| Spag8 |
A |
G |
4: 43,652,034 (GRCm39) |
V350A |
possibly damaging |
Het |
| Syngr1 |
A |
T |
15: 79,995,934 (GRCm39) |
I158F |
probably damaging |
Het |
| Tacstd2 |
C |
A |
6: 67,511,979 (GRCm39) |
V238L |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,063,014 (GRCm39) |
S815P |
possibly damaging |
Het |
| Tmem117 |
A |
T |
15: 94,612,793 (GRCm39) |
T110S |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,718 (GRCm39) |
I836T |
probably benign |
Het |
| Trim30b |
C |
A |
7: 104,006,569 (GRCm39) |
V96L |
probably benign |
Het |
| Tssk3 |
TGCTATCATGGGG |
TG |
4: 129,383,106 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
G |
T |
9: 21,031,822 (GRCm39) |
H418N |
probably benign |
Het |
| Uap1 |
G |
T |
1: 169,986,472 (GRCm39) |
T170K |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,606 (GRCm39) |
V141A |
not run |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,647 (GRCm39) |
I187K |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,492,859 (GRCm39) |
V317M |
probably damaging |
Het |
| Wnt8b |
A |
G |
19: 44,500,511 (GRCm39) |
K366R |
probably benign |
Het |
| Zfp207 |
C |
T |
11: 80,286,004 (GRCm39) |
P415L |
unknown |
Het |
| Zfp263 |
A |
G |
16: 3,562,435 (GRCm39) |
E66G |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
| Zfp985 |
T |
A |
4: 147,667,913 (GRCm39) |
H260Q |
probably damaging |
Het |
| Zmiz1 |
GCC |
GC |
14: 25,576,624 (GRCm39) |
|
probably null |
Het |
| Zmiz1 |
A |
G |
14: 25,576,633 (GRCm39) |
R47G |
probably damaging |
Het |
| Zmiz1 |
A |
C |
14: 25,576,631 (GRCm39) |
Q46P |
probably damaging |
Het |
|
| Other mutations in Pbrm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00598:Pbrm1
|
APN |
14 |
30,752,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00648:Pbrm1
|
APN |
14 |
30,774,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00654:Pbrm1
|
APN |
14 |
30,754,361 (GRCm39) |
splice site |
probably benign |
|
|
IGL00674:Pbrm1
|
APN |
14 |
30,840,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00701:Pbrm1
|
APN |
14 |
30,774,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00850:Pbrm1
|
APN |
14 |
30,809,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01024:Pbrm1
|
APN |
14 |
30,774,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Pbrm1
|
APN |
14 |
30,804,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Pbrm1
|
APN |
14 |
30,811,573 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02390:Pbrm1
|
APN |
14 |
30,754,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02675:Pbrm1
|
APN |
14 |
30,828,244 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02936:Pbrm1
|
APN |
14 |
30,783,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Pbrm1
|
APN |
14 |
30,789,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02997:Pbrm1
|
APN |
14 |
30,783,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03246:Pbrm1
|
APN |
14 |
30,832,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03290:Pbrm1
|
APN |
14 |
30,829,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Pbrm1
|
APN |
14 |
30,806,976 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03386:Pbrm1
|
APN |
14 |
30,772,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Pbrm1
|
UTSW |
14 |
30,789,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0502:Pbrm1
|
UTSW |
14 |
30,786,777 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0552:Pbrm1
|
UTSW |
14 |
30,757,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Pbrm1
|
UTSW |
14 |
30,807,016 (GRCm39) |
splice site |
probably null |
|
|
R0561:Pbrm1
|
UTSW |
14 |
30,757,948 (GRCm39) |
missense |
probably benign |
|
|
R0591:Pbrm1
|
UTSW |
14 |
30,768,387 (GRCm39) |
splice site |
probably benign |
|
|
R0835:Pbrm1
|
UTSW |
14 |
30,789,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1167:Pbrm1
|
UTSW |
14 |
30,772,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1209:Pbrm1
|
UTSW |
14 |
30,840,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1259:Pbrm1
|
UTSW |
14 |
30,796,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1321:Pbrm1
|
UTSW |
14 |
30,789,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Pbrm1
|
UTSW |
14 |
30,754,505 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1843:Pbrm1
|
UTSW |
14 |
30,760,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Pbrm1
|
UTSW |
14 |
30,828,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2202:Pbrm1
|
UTSW |
14 |
30,754,406 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2203:Pbrm1
|
UTSW |
14 |
30,754,406 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2247:Pbrm1
|
UTSW |
14 |
30,796,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3237:Pbrm1
|
UTSW |
14 |
30,754,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Pbrm1
|
UTSW |
14 |
30,757,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4280:Pbrm1
|
UTSW |
14 |
30,829,269 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4379:Pbrm1
|
UTSW |
14 |
30,789,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4381:Pbrm1
|
UTSW |
14 |
30,747,513 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4816:Pbrm1
|
UTSW |
14 |
30,832,405 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4939:Pbrm1
|
UTSW |
14 |
30,783,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Pbrm1
|
UTSW |
14 |
30,774,173 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4958:Pbrm1
|
UTSW |
14 |
30,796,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Pbrm1
|
UTSW |
14 |
30,754,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5276:Pbrm1
|
UTSW |
14 |
30,828,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5387:Pbrm1
|
UTSW |
14 |
30,804,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Pbrm1
|
UTSW |
14 |
30,806,968 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5476:Pbrm1
|
UTSW |
14 |
30,754,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5522:Pbrm1
|
UTSW |
14 |
30,811,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Pbrm1
|
UTSW |
14 |
30,827,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Pbrm1
|
UTSW |
14 |
30,757,949 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6089:Pbrm1
|
UTSW |
14 |
30,809,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6159:Pbrm1
|
UTSW |
14 |
30,774,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6224:Pbrm1
|
UTSW |
14 |
30,772,068 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6335:Pbrm1
|
UTSW |
14 |
30,806,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6499:Pbrm1
|
UTSW |
14 |
30,783,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6823:Pbrm1
|
UTSW |
14 |
30,806,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Pbrm1
|
UTSW |
14 |
30,786,777 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7021:Pbrm1
|
UTSW |
14 |
30,789,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7588:Pbrm1
|
UTSW |
14 |
30,806,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7828:Pbrm1
|
UTSW |
14 |
30,752,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Pbrm1
|
UTSW |
14 |
30,806,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Pbrm1
|
UTSW |
14 |
30,789,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8417:Pbrm1
|
UTSW |
14 |
30,749,419 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8517:Pbrm1
|
UTSW |
14 |
30,789,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9024:Pbrm1
|
UTSW |
14 |
30,783,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Pbrm1
|
UTSW |
14 |
30,806,760 (GRCm39) |
nonsense |
probably null |
|
|
R9509:Pbrm1
|
UTSW |
14 |
30,806,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9713:Pbrm1
|
UTSW |
14 |
30,828,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Pbrm1
|
UTSW |
14 |
30,832,411 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGACACAGAACTTGCTGC -3'
(R):5'- AGAACCTTAACTTACGTGTGGTTAC -3'
Sequencing Primer
(F):5'- CTTGCTGCATAATAGAAGCTCAG -3'
(R):5'- GCTATATAACCCAGACTGGCCTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation