Mutagenetix > Incidental Mutation

Incidental Mutation 'R6823:Pbrm1'

537765

Institutional Source

Beutler Lab

Gene Symbol

Pbrm1

Ensembl Gene

ENSMUSG00000042323

Gene Name

polybromo 1

Synonyms

BAF180, Pb1, 2610016F04Rik, 2310032M22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31019138-31121592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31084790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1042 (Y1042F)

Ref Sequence

ENSEMBL: ENSMUSP00000123546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022471] [ENSMUST00000022474] [ENSMUST00000052239] [ENSMUST00000064032] [ENSMUST00000090214] [ENSMUST00000112092] [ENSMUST00000112094] [ENSMUST00000112095] [ENSMUST00000112098] [ENSMUST00000123678] [ENSMUST00000135704] [ENSMUST00000136237] [ENSMUST00000146325] [ENSMUST00000156628] [ENSMUST00000203261]

AlphaFold

Q8BSQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022471
AA Change: Y1043F

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

SMART Domains

Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: Y1043F

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: Y1058F

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

SMART Domains

Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: Y1058F

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: Y1018F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
AA Change: Y1018F

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: Y1043F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: Y1043F

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: Y1058F

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

SMART Domains

Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: Y1058F

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: Y1011F

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

SMART Domains

Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
AA Change: Y1011F

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: Y1043F

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

SMART Domains

Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: Y1043F

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 damaging
Transcript: ENSMUST00000112098
AA Change: Y1058F

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

SMART Domains

Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: Y1058F

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: 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 damaging
Transcript: ENSMUST00000135704
AA Change: Y1001F

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

SMART Domains

Protein: ENSMUSP00000115505
Gene: ENSMUSG00000042323
AA Change: Y1001F

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: 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: ENSMUST00000146325

SMART Domains

Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323

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 damaging
Transcript: ENSMUST00000156628
AA Change: Y1042F

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

SMART Domains

Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323
AA Change: Y1042F

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: ENSMUST00000203261

SMART Domains

Protein: ENSMUSP00000145018
Gene: ENSMUSG00000058351

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,754,886		probably null	Het
Adgrv1	A	G	13: 81,557,081	F1537L	probably damaging	Het
Aggf1	T	C	13: 95,364,723	S384G	probably benign	Het
Anxa8	A	T	14: 34,094,765	D204V	possibly damaging	Het
Asap3	A	T	4: 136,227,572	E71V	possibly damaging	Het
BC024139	T	C	15: 76,119,746	*773W	probably null	Het
Bckdhb	T	C	9: 83,953,761	V106A	possibly damaging	Het
Cep250	A	G	2: 155,981,459	D1010G	probably benign	Het
Chrd	T	A	16: 20,734,736	L243Q	probably damaging	Het
Cib2	G	T	9: 54,549,891	L30I	possibly damaging	Het
Cpsf7	T	A	19: 10,532,884	L113*	probably null	Het
Cubn	T	A	2: 13,445,029	I895L	probably benign	Het
Cyp24a1	C	A	2: 170,487,979	R351I	probably benign	Het
Cyp2a12	A	T	7: 27,034,156	D320V	possibly damaging	Het
Dact1	C	G	12: 71,317,939	P498R	probably benign	Het
Diaph1	T	A	18: 37,876,383		probably null	Het
Dnah7a	A	T	1: 53,456,704	I3198N	probably benign	Het
Dopey2	A	T	16: 93,755,485	I271F	possibly damaging	Het
Erich3	C	A	3: 154,727,437	F349L	probably damaging	Het
Fam187b	G	C	7: 30,989,290	V358L	probably benign	Het
Fat4	T	A	3: 38,983,939	H3913Q	probably benign	Het
Fbxw7	G	C	3: 84,958,627	E118D	probably benign	Het
Fgf1	A	G	18: 38,847,108	I71T	probably damaging	Het
Fryl	A	T	5: 73,065,217	I2007K	probably damaging	Het
Galnt2	C	G	8: 124,324,011	P130A	probably benign	Het
H1fx	G	A	6: 87,981,302	R19C	probably damaging	Het
Hmga2	A	C	10: 120,476,024	S14A	possibly damaging	Het
Hoxb4	C	T	11: 96,318,654		probably benign	Het
Hr	A	T	14: 70,565,374	I756F	probably damaging	Het
Hrasls5	A	T	19: 7,639,496		probably benign	Het
Hspa1b	A	T	17: 34,958,185	S275T	probably benign	Het
Ikbkap	A	G	4: 56,787,939	Y331H	probably damaging	Het
Kcnh1	T	C	1: 192,505,289	*99R	probably null	Het
Kit	C	A	5: 75,652,649	L864I	probably benign	Het
Klk14	A	T	7: 43,694,456	K196*	probably null	Het
Lmod1	A	G	1: 135,325,167	N53S	probably damaging	Het
Myh13	T	C	11: 67,356,158	M1235T	probably benign	Het
Neurl3	T	A	1: 36,268,704	K175*	probably null	Het
Nlgn2	T	A	11: 69,825,924	K597M	probably damaging	Het
Npdc1	T	C	2: 25,409,109	M306T	probably damaging	Het
Obscn	C	T	11: 59,067,943		probably null	Het
Olfr404-ps1	T	C	11: 74,239,696	L44P	probably damaging	Het
Olfr553	G	A	7: 102,614,486	L168F	probably damaging	Het
Olfr913	T	C	9: 38,594,905	I228T	possibly damaging	Het
Pclo	T	A	5: 14,677,907		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Phf12	C	T	11: 78,022,511	Q430*	probably null	Het
Pld3	C	T	7: 27,535,897	R302H	probably damaging	Het
Plekha5	T	C	6: 140,525,858	S112P	probably benign	Het
Pmfbp1	T	A	8: 109,530,307	S548T	possibly damaging	Het
Ppa1	A	T	10: 61,667,603	I220F	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,078		probably benign	Het
Psmg2	A	T	18: 67,648,857	E164D	possibly damaging	Het
Rarb	T	C	14: 16,443,824	R155G	probably damaging	Het
Rnf215	T	C	11: 4,136,609	L162S	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Rtkn2	G	A	10: 68,026,632	V330M	probably damaging	Het
Slc16a4	A	T	3: 107,311,498	I472F	probably benign	Het
Snx14	T	C	9: 88,394,382	N617D	possibly damaging	Het
Spire2	T	C	8: 123,356,727	V150A	probably damaging	Het
Sptbn1	C	A	11: 30,114,787	R1904M	probably damaging	Het
Swap70	A	G	7: 110,281,303	E575G	possibly damaging	Het
Tbxas1	A	T	6: 38,919,153	M1L	possibly damaging	Het
Tenm3	A	T	8: 48,256,837	V1688D	probably damaging	Het
Tgfbr3	A	T	5: 107,149,914	S207T	probably damaging	Het
Timm44	A	G	8: 4,267,282	F248L	probably damaging	Het
Tmem161a	T	C	8: 70,181,199	L170P	probably damaging	Het
Tmem63a	A	T	1: 180,960,470	Y263F	possibly damaging	Het
Tnfsf9	C	A	17: 57,105,513	L28I	probably benign	Het
Tph2	T	A	10: 115,174,106	N183I	probably benign	Het
Ttyh1	T	C	7: 4,122,529	I60T	probably damaging	Het
Ubn1	T	G	16: 5,064,547	S48A	probably damaging	Het
Ubr5	T	C	15: 37,989,598	N2019S	probably benign	Het
Wbp2	T	C	11: 116,086,910	N6D	probably benign	Het
Wdr59	T	A	8: 111,459,040	E810V	possibly damaging	Het
Wiz	T	C	17: 32,360,421	D220G	probably damaging	Het
Yipf7	A	G	5: 69,517,070	L244P	probably damaging	Het
Zdhhc17	T	C	10: 110,955,111	T366A	possibly damaging	Het
Zfp169	A	T	13: 48,490,996		probably benign	Het
Zfp707	C	T	15: 75,969,723		probably benign	Het
Zfp788	A	G	7: 41,649,560	H540R	probably damaging	Het

Other mutations in Pbrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Pbrm1	APN	14	31030927	missense	probably damaging	1.00
IGL00648:Pbrm1	APN	14	31052283	missense	probably damaging	1.00
IGL00654:Pbrm1	APN	14	31032404	splice site	probably benign
IGL00674:Pbrm1	APN	14	31118776	missense	probably damaging	1.00
IGL00701:Pbrm1	APN	14	31052248	missense	probably damaging	1.00
IGL00850:Pbrm1	APN	14	31087619	missense	probably damaging	1.00
IGL01024:Pbrm1	APN	14	31052260	missense	probably damaging	1.00
IGL01924:Pbrm1	APN	14	31082604	missense	probably damaging	1.00
IGL02122:Pbrm1	APN	14	31089616	missense	probably damaging	0.97
IGL02390:Pbrm1	APN	14	31032510	missense	probably benign	0.00
IGL02675:Pbrm1	APN	14	31106287	missense	possibly damaging	0.85
IGL02936:Pbrm1	APN	14	31061513	missense	probably damaging	1.00
IGL02938:Pbrm1	APN	14	31067804	missense	probably damaging	1.00
IGL02997:Pbrm1	APN	14	31061551	missense	probably damaging	1.00
IGL03246:Pbrm1	APN	14	31110549	missense	probably benign	0.00
IGL03290:Pbrm1	APN	14	31107284	missense	probably damaging	1.00
IGL03372:Pbrm1	APN	14	31085019	missense	probably benign	0.04
IGL03386:Pbrm1	APN	14	31050092	missense	probably damaging	1.00
PIT4520001:Pbrm1	UTSW	14	31067861	missense	probably damaging	0.99
R0502:Pbrm1	UTSW	14	31064820	missense	probably benign	0.36
R0552:Pbrm1	UTSW	14	31035959	missense	probably damaging	1.00
R0558:Pbrm1	UTSW	14	31085059	splice site	probably null
R0561:Pbrm1	UTSW	14	31035991	missense	probably benign
R0591:Pbrm1	UTSW	14	31046430	splice site	probably benign
R0835:Pbrm1	UTSW	14	31067579	missense	probably damaging	1.00
R1167:Pbrm1	UTSW	14	31050142	missense	probably damaging	1.00
R1209:Pbrm1	UTSW	14	31118852	missense	probably damaging	1.00
R1259:Pbrm1	UTSW	14	31074814	missense	probably damaging	1.00
R1321:Pbrm1	UTSW	14	31067502	missense	probably damaging	1.00
R1622:Pbrm1	UTSW	14	31032548	missense	probably benign	0.07
R1843:Pbrm1	UTSW	14	31038957	missense	probably damaging	1.00
R1870:Pbrm1	UTSW	14	31106175	missense	probably damaging	0.99
R2202:Pbrm1	UTSW	14	31032449	missense	possibly damaging	0.76
R2203:Pbrm1	UTSW	14	31032449	missense	possibly damaging	0.76
R2247:Pbrm1	UTSW	14	31074893	missense	probably damaging	1.00
R3237:Pbrm1	UTSW	14	31032475	missense	probably damaging	1.00
R4091:Pbrm1	UTSW	14	31036003	missense	probably benign	0.00
R4280:Pbrm1	UTSW	14	31107312	critical splice donor site	probably null
R4379:Pbrm1	UTSW	14	31067706	missense	probably damaging	1.00
R4381:Pbrm1	UTSW	14	31025556	missense	probably benign	0.02
R4816:Pbrm1	UTSW	14	31110448	missense	probably benign	0.32
R4939:Pbrm1	UTSW	14	31061623	missense	probably damaging	1.00
R4945:Pbrm1	UTSW	14	31052216	missense	probably damaging	0.97
R4958:Pbrm1	UTSW	14	31074827	missense	probably damaging	1.00
R5095:Pbrm1	UTSW	14	31032530	missense	probably benign	0.00
R5276:Pbrm1	UTSW	14	31106184	missense	probably damaging	0.99
R5387:Pbrm1	UTSW	14	31082610	missense	probably damaging	1.00
R5434:Pbrm1	UTSW	14	31085011	missense	probably damaging	0.96
R5476:Pbrm1	UTSW	14	31032519	missense	probably benign	0.00
R5522:Pbrm1	UTSW	14	31089563	missense	probably damaging	1.00
R5548:Pbrm1	UTSW	14	31105424	missense	probably damaging	1.00
R5605:Pbrm1	UTSW	14	31035992	missense	probably benign	0.20
R6089:Pbrm1	UTSW	14	31087585	missense	probably damaging	0.99
R6159:Pbrm1	UTSW	14	31052283	missense	possibly damaging	0.95
R6224:Pbrm1	UTSW	14	31050111	missense	probably benign	0.19
R6335:Pbrm1	UTSW	14	31084095	missense	probably damaging	1.00
R6499:Pbrm1	UTSW	14	31061509	missense	probably damaging	0.99
R7002:Pbrm1	UTSW	14	31064820	missense	probably benign	0.36
R7021:Pbrm1	UTSW	14	31067816	missense	probably damaging	0.98
R7216:Pbrm1	UTSW	14	31045422	missense	possibly damaging	0.93
R7588:Pbrm1	UTSW	14	31084943	missense	probably damaging	0.99
R7828:Pbrm1	UTSW	14	31030891	missense	probably damaging	1.00
R8035:Pbrm1	UTSW	14	31084152	missense	probably damaging	1.00
R8188:Pbrm1	UTSW	14	31067816	missense	probably damaging	0.98
R8417:Pbrm1	UTSW	14	31027462	missense	possibly damaging	0.92
R8517:Pbrm1	UTSW	14	31067782	missense	probably benign	0.00
R9024:Pbrm1	UTSW	14	31061666	missense	probably damaging	1.00
R9294:Pbrm1	UTSW	14	31084803	nonsense	probably null
R9509:Pbrm1	UTSW	14	31084957	missense	probably damaging	1.00
Z1088:Pbrm1	UTSW	14	31110454	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- CTGTCATATATGCACTGTACAAAGC -3'
(R):5'- TTCAGCTCTATTGTCATCTGAGTTG -3'

Sequencing Primer
(F):5'- TGCACTGTACAAAGCATTAAGAC -3'
(R):5'- GCATTTGCAAACACAGAGGC -3'

Posted On

2018-10-18