Incidental Mutation 'R3237:Pbrm1'
ID |
259115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pbrm1
|
Ensembl Gene |
ENSMUSG00000042323 |
Gene Name |
polybromo 1 |
Synonyms |
2310032M22Rik, BAF180, 2610016F04Rik, Pb1 |
MMRRC Submission |
040619-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3237 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
30741095-30843549 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30754432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 151
(F151L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022471]
[ENSMUST00000022474]
[ENSMUST00000052239]
[ENSMUST00000090214]
[ENSMUST00000112092]
[ENSMUST00000112094]
[ENSMUST00000112095]
[ENSMUST00000112098]
[ENSMUST00000135704]
[ENSMUST00000123678]
[ENSMUST00000136237]
[ENSMUST00000146325]
[ENSMUST00000156628]
[ENSMUST00000144009]
[ENSMUST00000112106]
|
AlphaFold |
Q8BSQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022471
AA Change: F151L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022471 Gene: ENSMUSG00000042323 AA Change: F151L
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 damaging
Transcript: ENSMUST00000022474
AA Change: F151L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022474 Gene: ENSMUSG00000042323 AA Change: F151L
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 damaging
Transcript: ENSMUST00000052239
AA Change: F151L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000060476 Gene: ENSMUSG00000042323 AA Change: F151L
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: F151L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000087682 Gene: ENSMUSG00000042323 AA Change: F151L
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: F151L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107721 Gene: ENSMUSG00000042323 AA Change: F151L
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 damaging
Transcript: ENSMUST00000112094
AA Change: F151L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107723 Gene: ENSMUSG00000042323 AA Change: F151L
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 damaging
Transcript: ENSMUST00000112095
AA Change: F151L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107724 Gene: ENSMUSG00000042323 AA Change: F151L
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: F151L
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107727 Gene: ENSMUSG00000042323 AA Change: F151L
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: F95L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000115505 Gene: ENSMUSG00000042323 AA Change: F95L
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: F151L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000120549 Gene: ENSMUSG00000042323 AA Change: F151L
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: ENSMUST00000136237
AA Change: F151L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000119722 Gene: ENSMUSG00000042323 AA Change: F151L
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
AA Change: F172L
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000122805 Gene: ENSMUSG00000042323 AA Change: F172L
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: ENSMUST00000156628
AA Change: F151L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000123546 Gene: ENSMUSG00000042323 AA Change: F151L
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: 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 |
|
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aff2 |
T |
A |
X: 68,907,543 (GRCm39) |
V1175E |
possibly damaging |
Het |
Agbl3 |
A |
G |
6: 34,800,022 (GRCm39) |
|
probably null |
Het |
Bcar3 |
C |
A |
3: 122,318,645 (GRCm39) |
Q678K |
probably benign |
Het |
Ccm2 |
G |
A |
11: 6,520,090 (GRCm39) |
V53I |
probably benign |
Het |
Cd3e |
G |
T |
9: 44,913,608 (GRCm39) |
C42* |
probably null |
Het |
Cd4 |
A |
T |
6: 124,844,633 (GRCm39) |
I384N |
probably benign |
Het |
Ceacam11 |
T |
A |
7: 17,707,379 (GRCm39) |
F54L |
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,197,506 (GRCm39) |
S2122P |
probably damaging |
Het |
Clptm1 |
A |
G |
7: 19,369,271 (GRCm39) |
S461P |
probably damaging |
Het |
Dlat |
T |
C |
9: 50,549,331 (GRCm39) |
T518A |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,985,680 (GRCm39) |
T1466A |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,845,815 (GRCm39) |
T3023I |
probably benign |
Het |
Fam181a |
T |
G |
12: 103,282,348 (GRCm39) |
C84W |
possibly damaging |
Het |
Gask1a |
C |
T |
9: 121,793,935 (GRCm39) |
P30S |
possibly damaging |
Het |
H2-Q6 |
C |
A |
17: 35,644,676 (GRCm39) |
T155K |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Inpp5b |
A |
G |
4: 124,674,279 (GRCm39) |
R329G |
probably benign |
Het |
Klrb1f |
A |
T |
6: 129,031,306 (GRCm39) |
I168L |
possibly damaging |
Het |
Lama4 |
A |
T |
10: 38,973,175 (GRCm39) |
I1581F |
probably damaging |
Het |
Lipn |
A |
G |
19: 34,046,138 (GRCm39) |
N37S |
probably benign |
Het |
Lyzl4 |
T |
C |
9: 121,413,233 (GRCm39) |
D65G |
probably benign |
Het |
Med29 |
A |
G |
7: 28,092,046 (GRCm39) |
|
probably benign |
Het |
Myrip |
C |
A |
9: 120,270,473 (GRCm39) |
D574E |
possibly damaging |
Het |
N4bp3 |
A |
T |
11: 51,536,761 (GRCm39) |
F104Y |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,270,810 (GRCm39) |
K892* |
probably null |
Het |
Nsd1 |
T |
A |
13: 55,460,701 (GRCm39) |
H2309Q |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Optn |
T |
C |
2: 5,039,014 (GRCm39) |
S370G |
probably damaging |
Het |
Plekhs1 |
A |
T |
19: 56,453,032 (GRCm39) |
|
probably null |
Het |
Rpn1 |
A |
G |
6: 88,080,396 (GRCm39) |
K565R |
probably benign |
Het |
Rrh |
T |
C |
3: 129,605,360 (GRCm39) |
Y110C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,769,075 (GRCm39) |
|
probably null |
Het |
Scai |
C |
T |
2: 39,040,326 (GRCm39) |
|
probably benign |
Het |
Scap |
C |
G |
9: 110,208,650 (GRCm39) |
P564A |
probably damaging |
Het |
Setdb1 |
A |
G |
3: 95,246,065 (GRCm39) |
V619A |
probably damaging |
Het |
Slc41a3 |
T |
C |
6: 90,613,847 (GRCm39) |
Y226H |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,930,773 (GRCm39) |
I617V |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,186,725 (GRCm39) |
R180Q |
probably benign |
Het |
Spata22 |
T |
A |
11: 73,236,713 (GRCm39) |
F340I |
probably damaging |
Het |
St8sia3 |
T |
C |
18: 64,402,886 (GRCm39) |
F175S |
probably damaging |
Het |
Supt20 |
T |
C |
3: 54,616,501 (GRCm39) |
S253P |
possibly damaging |
Het |
Syngap1 |
T |
A |
17: 27,176,067 (GRCm39) |
Y118* |
probably null |
Het |
Szt2 |
A |
C |
4: 118,240,231 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Uba3 |
G |
T |
6: 97,163,201 (GRCm39) |
T319K |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Zc3hav1 |
A |
G |
6: 38,296,650 (GRCm39) |
L751S |
probably damaging |
Het |
Zfp804b |
T |
C |
5: 6,819,239 (GRCm39) |
M1275V |
probably benign |
Het |
Zgrf1 |
A |
G |
3: 127,407,024 (GRCm39) |
D1597G |
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 |
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'- TGTCTCTTAAATTAGCAGTTCTTGG -3'
(R):5'- ATGAAACTGGAGTGTGGCTTAC -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GTGGCTTACACTCCAAGTTCAC -3'
|
Posted On |
2015-01-23 |