Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00674:Pbrm1'

12919

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) question?

Stock #

IGL00674

Quality Score

Status

Chromosome

Chromosomal Location

30741095-30843549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30840733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1612 (P1612S)

Ref Sequence

ENSEMBL: ENSMUSP00000107721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022471] [ENSMUST00000022474] [ENSMUST00000052239] [ENSMUST00000064032] [ENSMUST00000090214] [ENSMUST00000112092] [ENSMUST00000112094] [ENSMUST00000112098] [ENSMUST00000112095] [ENSMUST00000203261] [ENSMUST00000123678] [ENSMUST00000136237] [ENSMUST00000156628]

AlphaFold

Q8BSQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022471
AA Change: P1542S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: P1542S

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: P1557S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: P1557S

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: P1542S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
AA Change: P1542S

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: ENSMUST00000064032

SMART Domains

Protein: ENSMUSP00000067418
Gene: ENSMUSG00000058351

Domain	Start	End	E-Value	Type
Pfam:UPF0640	2	68	9.1e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090214
AA Change: P1649S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: P1649S

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 damaging
Transcript: ENSMUST00000112092
AA Change: P1612S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: P1612S

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: P1562S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
AA Change: P1562S

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: ENSMUST00000112098
AA Change: P1664S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: P1664S

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 damaging
Transcript: ENSMUST00000112095
AA Change: P1594S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: P1594S

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: ENSMUST00000203261

SMART Domains

Protein: ENSMUSP00000145018
Gene: ENSMUSG00000058351

Domain	Start	End	E-Value	Type
Pfam:UPF0640	2	68	9.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123678

SMART Domains

Protein: ENSMUSP00000120549
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	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

SMART Domains

Protein: ENSMUSP00000119722
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	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: ENSMUST00000156628

SMART Domains

Protein: ENSMUSP00000123546
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	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

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	T	A	15: 57,971,782 (GRCm39)	Q365L	possibly damaging	Het
Cd2ap	A	T	17: 43,119,676 (GRCm39)	N492K	probably benign	Het
Fam114a1	T	A	5: 65,137,347 (GRCm39)	S97T	probably benign	Het
Fbxw8	C	T	5: 118,233,658 (GRCm39)	M324I	possibly damaging	Het
Gpx6	A	G	13: 21,497,978 (GRCm39)		probably benign	Het
Kbtbd3	A	G	9: 4,329,949 (GRCm39)	T108A	probably benign	Het
Lrrd1	T	C	5: 3,899,773 (GRCm39)	I26T	possibly damaging	Het
Mark1	C	T	1: 184,644,303 (GRCm39)	G454S	probably benign	Het
Mrpl20	T	C	4: 155,893,041 (GRCm39)	F91L	probably benign	Het
Nt5c3b	A	T	11: 100,323,735 (GRCm39)		probably benign	Het
Osbpl2	T	C	2: 179,792,051 (GRCm39)	Y252H	possibly damaging	Het
Pard3	A	G	8: 128,115,159 (GRCm39)	N626D	probably damaging	Het
Prl3d3	T	C	13: 27,343,114 (GRCm39)		probably null	Het
Sall4	T	C	2: 168,597,700 (GRCm39)	D380G	probably damaging	Het
Sema3b	A	C	9: 107,481,240 (GRCm39)		probably null	Het
Spred1	C	T	2: 117,008,339 (GRCm39)	P415L	probably damaging	Het
Tnc	T	A	4: 63,883,844 (GRCm39)	D1958V	probably damaging	Het
Tnfsf15	A	G	4: 63,652,483 (GRCm39)		probably benign	Het
Usp24	T	A	4: 106,229,876 (GRCm39)		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
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
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

2012-12-06