Incidental Mutation 'IGL02390:Pbrm1'
| ID |
294236 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pbrm1
|
| Ensembl Gene |
ENSMUSG00000042323 |
| Gene Name |
polybromo 1 |
| Synonyms |
2310032M22Rik, BAF180, 2610016F04Rik, Pb1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30741095-30843549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30754467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 162
(D162E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022471]
[ENSMUST00000022474]
[ENSMUST00000052239]
[ENSMUST00000090214]
[ENSMUST00000112092]
[ENSMUST00000112094]
[ENSMUST00000112095]
[ENSMUST00000135704]
[ENSMUST00000123678]
[ENSMUST00000156628]
[ENSMUST00000112098]
[ENSMUST00000146325]
[ENSMUST00000136237]
[ENSMUST00000112106]
|
| AlphaFold |
Q8BSQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022471
AA Change: D162E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 |
probably benign
Transcript: ENSMUST00000022474
AA Change: D162E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 |
probably benign
Transcript: ENSMUST00000052239
AA Change: D162E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 benign
Transcript: ENSMUST00000090214
AA Change: D162E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 |
probably benign
Transcript: ENSMUST00000112092
AA Change: D162E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: D162E
| 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
AA Change: D162E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 |
probably benign
Transcript: ENSMUST00000112095
AA Change: D162E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 |
probably benign
Transcript: ENSMUST00000135704
AA Change: D106E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115505
Gene: ENSMUSG00000042323
AA Change: D106E
| 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 |
probably benign
Transcript: ENSMUST00000123678
AA Change: D162E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000120549
Gene: ENSMUSG00000042323
AA Change: D162E
| 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: ENSMUST00000156628
AA Change: D162E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112098
AA Change: D162E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 |
probably benign
Transcript: ENSMUST00000146325
AA Change: D183E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323
AA Change: D183E
| 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 |
probably benign
Transcript: ENSMUST00000136237
AA Change: D162E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119722
Gene: ENSMUSG00000042323
AA Change: D162E
| 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 |
noncoding transcript
Transcript: ENSMUST00000145497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112106
|
| SMART Domains |
Protein: ENSMUSP00000107734
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BROMO
|
61 |
91 |
6e-16 |
BLAST |
|
PDB:3IU5|A
|
61 |
91 |
6e-17 |
PDB |
|
| Coding Region Coverage |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,187,377 (GRCm39) |
K894R |
probably benign |
Het |
| Ampd1 |
C |
T |
3: 102,986,357 (GRCm39) |
A12V |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,860,843 (GRCm39) |
D345V |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,441,580 (GRCm39) |
|
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atrn |
C |
T |
2: 130,862,897 (GRCm39) |
P1326S |
possibly damaging |
Het |
| Btbd9 |
A |
G |
17: 30,743,788 (GRCm39) |
V238A |
probably benign |
Het |
| Cdh16 |
T |
C |
8: 105,348,606 (GRCm39) |
T141A |
probably damaging |
Het |
| Cetn4 |
T |
C |
3: 37,363,305 (GRCm39) |
D102G |
probably damaging |
Het |
| Col5a3 |
T |
A |
9: 20,688,292 (GRCm39) |
N1256I |
unknown |
Het |
| Cyfip2 |
A |
G |
11: 46,112,225 (GRCm39) |
F993L |
possibly damaging |
Het |
| Dcaf6 |
T |
A |
1: 165,250,490 (GRCm39) |
I125F |
possibly damaging |
Het |
| Dclk2 |
A |
C |
3: 86,731,990 (GRCm39) |
S336A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,049,819 (GRCm39) |
V4327I |
probably benign |
Het |
| Ebna1bp2 |
T |
C |
4: 118,478,694 (GRCm39) |
V59A |
possibly damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| F2 |
A |
T |
2: 91,463,332 (GRCm39) |
V184D |
possibly damaging |
Het |
| Fbxo38 |
C |
T |
18: 62,666,660 (GRCm39) |
R171H |
probably damaging |
Het |
| Fhod3 |
A |
C |
18: 25,199,332 (GRCm39) |
S668R |
probably benign |
Het |
| Fkbp10 |
T |
A |
11: 100,306,843 (GRCm39) |
F78L |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,947,643 (GRCm39) |
D455G |
probably damaging |
Het |
| Hyi |
C |
T |
4: 118,219,810 (GRCm39) |
R254C |
probably benign |
Het |
| Igfl3 |
A |
T |
7: 17,915,659 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
| Lrrc8a |
C |
A |
2: 30,146,713 (GRCm39) |
P509Q |
probably damaging |
Het |
| Mapkap1 |
T |
A |
2: 34,322,101 (GRCm39) |
N6K |
probably damaging |
Het |
| Mdh1b |
T |
A |
1: 63,760,716 (GRCm39) |
H115L |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mrpl15 |
T |
C |
1: 4,855,837 (GRCm39) |
S22G |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,456,761 (GRCm39) |
Y616H |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,302,502 (GRCm39) |
|
probably benign |
Het |
| Olig1 |
C |
A |
16: 91,067,041 (GRCm39) |
Q93K |
probably damaging |
Het |
| Or13d1 |
T |
A |
4: 52,971,263 (GRCm39) |
I214N |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,716,986 (GRCm39) |
L182F |
probably benign |
Het |
| Or4f59 |
A |
T |
2: 111,873,056 (GRCm39) |
V107E |
possibly damaging |
Het |
| Otoa |
C |
A |
7: 120,730,590 (GRCm39) |
L597M |
possibly damaging |
Het |
| Parp16 |
C |
T |
9: 65,141,051 (GRCm39) |
P207L |
possibly damaging |
Het |
| Pramel21 |
T |
A |
4: 143,341,895 (GRCm39) |
M108K |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,264,685 (GRCm39) |
I658V |
possibly damaging |
Het |
| Psg21 |
A |
T |
7: 18,386,556 (GRCm39) |
H143Q |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,676,014 (GRCm39) |
R28W |
probably damaging |
Het |
| Sart1 |
T |
G |
19: 5,430,489 (GRCm39) |
M753L |
possibly damaging |
Het |
| Smcr8 |
T |
A |
11: 60,670,548 (GRCm39) |
D565E |
probably benign |
Het |
| Smyd4 |
T |
A |
11: 75,278,332 (GRCm39) |
|
probably null |
Het |
| Sned1 |
T |
C |
1: 93,189,386 (GRCm39) |
V274A |
probably benign |
Het |
| Tbc1d13 |
T |
C |
2: 30,027,399 (GRCm39) |
|
probably benign |
Het |
| Tox |
A |
T |
4: 6,697,534 (GRCm39) |
I423N |
possibly damaging |
Het |
| Tsc2 |
A |
T |
17: 24,819,427 (GRCm39) |
V1232D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,216,212 (GRCm39) |
V178I |
possibly damaging |
Het |
| Usp13 |
T |
A |
3: 32,985,865 (GRCm39) |
Y175* |
probably null |
Het |
| Vwde |
A |
G |
6: 13,190,684 (GRCm39) |
V469A |
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 |
|
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 |
|
R7216:Pbrm1
|
UTSW |
14 |
30,767,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation