Incidental Mutation 'R2203:Pbrm1'
| ID |
238859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbrm1
|
| Ensembl Gene |
ENSMUSG00000042323 |
| Gene Name |
polybromo 1 |
| Synonyms |
2310032M22Rik, BAF180, 2610016F04Rik, Pb1 |
| MMRRC Submission |
040205-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2203 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30741095-30843549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30754406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 142
(D142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022471]
[ENSMUST00000022474]
[ENSMUST00000052239]
[ENSMUST00000090214]
[ENSMUST00000112092]
[ENSMUST00000112094]
[ENSMUST00000112095]
[ENSMUST00000112098]
[ENSMUST00000135704]
[ENSMUST00000146325]
[ENSMUST00000136237]
[ENSMUST00000123678]
[ENSMUST00000156628]
[ENSMUST00000112106]
[ENSMUST00000144009]
|
| AlphaFold |
Q8BSQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022471
AA Change: D142G
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: D142G
| 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: D142G
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: D142G
| 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: D142G
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
AA Change: D142G
| 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 |
possibly damaging
Transcript: ENSMUST00000090214
AA Change: D142G
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: D142G
| 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: D142G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: D142G
| 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 |
possibly damaging
Transcript: ENSMUST00000112094
AA Change: D142G
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
AA Change: D142G
| 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: D142G
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: D142G
| 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: D142G
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: D142G
| 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: ENSMUST00000135704
AA Change: D86G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115505
Gene: ENSMUSG00000042323
AA Change: D86G
| 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: ENSMUST00000146325
AA Change: D163G
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323
AA Change: D163G
| 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: D142G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000119722
Gene: ENSMUSG00000042323
AA Change: D142G
| 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: ENSMUST00000123678
AA Change: D142G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120549
Gene: ENSMUSG00000042323
AA Change: D142G
| 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: D142G
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323
AA Change: D142G
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144009
|
| SMART Domains |
Protein: ENSMUSP00000123518
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BROMO
|
40 |
68 |
8e-14 |
BLAST |
|
PDB:3IU5|A
|
64 |
84 |
8e-9 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,090,291 (GRCm39) |
T386I |
probably damaging |
Het |
| Abcc5 |
C |
G |
16: 20,224,632 (GRCm39) |
L44F |
possibly damaging |
Het |
| Abi3bp |
T |
G |
16: 56,433,566 (GRCm39) |
L550R |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,462,967 (GRCm39) |
D910E |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,599,234 (GRCm39) |
A1742T |
probably damaging |
Het |
| Cartpt |
A |
T |
13: 100,037,133 (GRCm39) |
S4T |
probably benign |
Het |
| Ccdc66 |
T |
A |
14: 27,208,790 (GRCm39) |
D488V |
probably benign |
Het |
| Cdan1 |
C |
A |
2: 120,551,241 (GRCm39) |
C1093F |
probably damaging |
Het |
| Cfap45 |
T |
C |
1: 172,359,728 (GRCm39) |
V76A |
probably benign |
Het |
| Clptm1 |
G |
T |
7: 19,367,817 (GRCm39) |
F598L |
possibly damaging |
Het |
| Cntrl |
G |
A |
2: 35,033,749 (GRCm39) |
V257I |
possibly damaging |
Het |
| Cpa1 |
A |
G |
6: 30,641,818 (GRCm39) |
D214G |
probably damaging |
Het |
| Crebbp |
A |
C |
16: 3,956,641 (GRCm39) |
M394R |
possibly damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,447,024 (GRCm39) |
L407P |
probably damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,408,693 (GRCm39) |
D976A |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,697,297 (GRCm39) |
V87M |
possibly damaging |
Het |
| Elapor1 |
C |
T |
3: 108,382,359 (GRCm39) |
G270E |
probably damaging |
Het |
| Fam184a |
T |
A |
10: 53,528,530 (GRCm39) |
Q29L |
probably damaging |
Het |
| Flnc |
C |
T |
6: 29,459,507 (GRCm39) |
P2536S |
probably damaging |
Het |
| Gapdh |
A |
T |
6: 125,139,569 (GRCm39) |
S165T |
probably benign |
Het |
| Gm6370 |
T |
A |
5: 146,430,539 (GRCm39) |
D241E |
probably benign |
Het |
| Grik4 |
T |
A |
9: 42,458,951 (GRCm39) |
S596C |
probably damaging |
Het |
| Gtf2e1 |
T |
A |
16: 37,331,904 (GRCm39) |
E390D |
possibly damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,141 (GRCm39) |
L497P |
probably damaging |
Het |
| Hmgcs2 |
T |
A |
3: 98,198,499 (GRCm39) |
I134N |
probably damaging |
Het |
| Htr5b |
T |
C |
1: 121,455,693 (GRCm39) |
T76A |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,876,151 (GRCm39) |
E812G |
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,225,712 (GRCm39) |
M615K |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,075,242 (GRCm39) |
|
probably null |
Het |
| Kcnj5 |
T |
C |
9: 32,234,196 (GRCm39) |
T40A |
probably benign |
Het |
| Knstrn |
T |
A |
2: 118,661,456 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
T |
C |
10: 80,955,213 (GRCm39) |
S14P |
probably damaging |
Het |
| Med26 |
T |
C |
8: 73,249,746 (GRCm39) |
E451G |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,323,165 (GRCm39) |
M2081K |
probably benign |
Het |
| Nectin4 |
G |
A |
1: 171,213,797 (GRCm39) |
V433M |
possibly damaging |
Het |
| Nop56 |
T |
A |
2: 130,119,488 (GRCm39) |
I51N |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nudt5 |
A |
T |
2: 5,860,794 (GRCm39) |
I22F |
possibly damaging |
Het |
| Or4p23 |
C |
G |
2: 88,576,953 (GRCm39) |
G93A |
probably benign |
Het |
| Pdcl |
A |
T |
2: 37,242,056 (GRCm39) |
N231K |
probably benign |
Het |
| Pkd1 |
G |
T |
17: 24,799,863 (GRCm39) |
A591S |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,844,514 (GRCm39) |
I144T |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,113,476 (GRCm39) |
Q1970K |
probably damaging |
Het |
| Rabep1 |
A |
C |
11: 70,825,400 (GRCm39) |
E689A |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,659,585 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
A |
C |
4: 86,363,998 (GRCm39) |
Y162D |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,366 (GRCm39) |
W324R |
probably damaging |
Het |
| Slc19a1 |
T |
C |
10: 76,877,758 (GRCm39) |
C98R |
possibly damaging |
Het |
| Slc26a8 |
G |
T |
17: 28,866,981 (GRCm39) |
L583I |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,879,435 (GRCm39) |
C34R |
possibly damaging |
Het |
| Stoml2 |
G |
T |
4: 43,030,243 (GRCm39) |
Y119* |
probably null |
Het |
| Susd1 |
A |
G |
4: 59,349,843 (GRCm39) |
L531P |
possibly damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,497,638 (GRCm39) |
D198G |
possibly damaging |
Het |
| Ttc39a |
A |
G |
4: 109,288,785 (GRCm39) |
N293S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,601,985 (GRCm39) |
N18559S |
possibly damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,083 (GRCm39) |
N729K |
probably benign |
Het |
| Zbtb47 |
A |
G |
9: 121,591,703 (GRCm39) |
T8A |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,048 (GRCm39) |
T160S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGATGGACTAAGTTGTGCATATC -3'
(R):5'- GAAGCAGCAACATAGCGCTC -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GCAACATAGCGCTCCCTCC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation