Mutagenetix > Incidental Mutation

Incidental Mutation 'R1209:Pbrm1'

100617

Institutional Source

Beutler Lab

Gene Symbol

Pbrm1

Ensembl Gene

ENSMUSG00000042323

Gene Name

polybromo 1

Synonyms

2310032M22Rik, BAF180, 2610016F04Rik, Pb1

MMRRC Submission

039278-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1209 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30741095-30843549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30840809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1637 (L1637H)

Ref Sequence

ENSEMBL: ENSMUSP00000107721 (fasta)

Gene Model

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

AlphaFold

Q8BSQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022471
AA Change: L1567H

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

SMART Domains

Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: L1567H

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: L1582H

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

SMART Domains

Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: L1582H

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: L1567H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
AA Change: L1567H

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

probably damaging
Transcript: ENSMUST00000090214
AA Change: L1674H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: L1674H

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: L1637H

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

SMART Domains

Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: L1637H

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: L1587H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
AA Change: L1587H

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: L1689H

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

SMART Domains

Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: L1689H

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: L1619H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: L1619H

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: 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

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

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.2%
20x: 85.9%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,839,629 (GRCm39)	D180G	probably damaging	Het
Aopep	A	G	13: 63,338,878 (GRCm39)		probably null	Het
Banp	G	A	8: 122,702,656 (GRCm39)	V30I	possibly damaging	Het
Btn2a2	C	T	13: 23,664,736 (GRCm39)		probably null	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cdhr1	C	T	14: 36,804,899 (GRCm39)		probably null	Het
Cfap44	T	C	16: 44,242,780 (GRCm39)	I728T	possibly damaging	Het
Fbn2	A	G	18: 58,203,088 (GRCm39)	M1212T	probably benign	Het
Fmo3	C	T	1: 162,791,597 (GRCm39)	D227N	probably benign	Het
Klk1b5	G	T	7: 43,496,422 (GRCm39)	R118L	probably damaging	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Muc5b	A	G	7: 141,411,647 (GRCm39)	N1531S	unknown	Het
Mypn	A	G	10: 62,954,278 (GRCm39)	S1234P	probably damaging	Het
Nme5	A	G	18: 34,702,949 (GRCm39)	L113S	probably damaging	Het
Oprk1	T	C	1: 5,672,484 (GRCm39)	V207A	probably benign	Het
Or13a20	A	G	7: 140,231,927 (GRCm39)	T12A	probably benign	Het
Or4f52	T	C	2: 111,061,958 (GRCm39)	Y60C	probably damaging	Het
Otop2	A	G	11: 115,215,469 (GRCm39)	E130G	possibly damaging	Het
Pard6a	A	G	8: 106,429,023 (GRCm39)	K78R	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rnaset2b	T	A	17: 7,246,475 (GRCm39)	C27S	probably benign	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Speer4a1	T	C	5: 26,240,123 (GRCm39)		probably null	Het
Srsf4	A	G	4: 131,628,370 (GRCm39)		probably benign	Het
Syt11	G	A	3: 88,655,147 (GRCm39)	R79C	probably damaging	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tmem132d	T	A	5: 127,861,934 (GRCm39)	D729V	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	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
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

Predicted Primers

PCR Primer
(F):5'- ACATCAACCCTTAAAACTGGGGTCATTT -3'
(R):5'- GCACTTCGCTTTACCTGTAAGAAAACC -3'

Sequencing Primer
(F):5'- TTTCAGCTCGAAGACGGGAT -3'
(R):5'- CTAGGACCAACTTCACATTTCATTG -3'

Posted On

2014-01-15