Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Bap1'

22128

Institutional Source

Beutler Lab

Gene Symbol

Bap1

Ensembl Gene

ENSMUSG00000021901

Gene Name

Brca1 associated protein 1

Synonyms

2300006C11Rik

MMRRC Submission

038423-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

31251450-31259944 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31256724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 31 (Y31H)

Ref Sequence

ENSEMBL: ENSMUSP00000139903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022458] [ENSMUST00000048603] [ENSMUST00000187156] [ENSMUST00000188453]

AlphaFold

Q99PU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022458
AA Change: Y394H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022458
Gene: ENSMUSG00000021901
AA Change: Y394H

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	5	215	3e-70	PFAM
low complexity region	282	293	N/A	INTRINSIC
low complexity region	396	407	N/A	INTRINSIC
low complexity region	577	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048603

SMART Domains

Protein: ENSMUSP00000043281
Gene: ENSMUSG00000019027

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
Pfam:DHC_N2	998	1404	6.3e-146	PFAM
AAA	1558	1697	6.02e-1	SMART
AAA	1839	2077	4.66e0	SMART
low complexity region	2149	2157	N/A	INTRINSIC
AAA	2204	2353	2.35e-1	SMART
Pfam:AAA_8	2533	2803	7.7e-84	PFAM
Pfam:MT	2815	3165	9.9e-57	PFAM
Pfam:AAA_9	3185	3410	1.1e-93	PFAM
Pfam:Dynein_heavy	3545	4246	2.7e-275	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185987

Predicted Effect

probably damaging
Transcript: ENSMUST00000187156
AA Change: Y31H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139903
Gene: ENSMUSG00000021901
AA Change: Y31H

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188453

SMART Domains

Protein: ENSMUSP00000139824
Gene: ENSMUSG00000021901

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	4	137	3.7e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190788

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous deletion of this gene causes delayed embryonic growth and complete lethality during organogenesis. Systemic or hematopoietic-restricted deletion in adults recapitulates features of myelodysplastic syndrome. Heterozygotes show increased incidence of asbestos-induced malignant mesothelioma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,105,449 (GRCm38)	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,693,607 (GRCm38)	V845D	probably damaging	Het
Anxa8	T	A	14: 34,097,939 (GRCm38)	F269Y	probably benign	Het
Anxa8	T	A	14: 34,097,940 (GRCm38)	F295L	possibly damaging	Het
Aox4	C	G	1: 58,228,866 (GRCm38)	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,909,869 (GRCm38)	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843 (GRCm38)		probably benign	Het
Arhgef26	C	T	3: 62,448,259 (GRCm38)	H751Y	probably benign	Het
Asic4	A	T	1: 75,469,687 (GRCm38)	Q291L	possibly damaging	Het
Brf1	A	T	12: 112,961,139 (GRCm38)	V655D	probably damaging	Het
Cebpz	A	G	17: 78,931,391 (GRCm38)	S663P	probably benign	Het
Ces2h	A	G	8: 105,018,061 (GRCm38)	D357G	probably benign	Het
Cfap36	T	C	11: 29,244,073 (GRCm38)	T90A	probably benign	Het
Ciita	A	T	16: 10,512,270 (GRCm38)	D803V	probably damaging	Het
Clnk	C	A	5: 38,774,608 (GRCm38)		probably benign	Het
Cyp46a1	A	G	12: 108,351,211 (GRCm38)	N158S	probably damaging	Het
Cyp4f13	A	G	17: 32,941,106 (GRCm38)	I98T	possibly damaging	Het
Def8	G	A	8: 123,456,495 (GRCm38)	A278T	probably damaging	Het
Dll3	T	A	7: 28,301,321 (GRCm38)	D103V	possibly damaging	Het
Dnaic1	T	A	4: 41,629,814 (GRCm38)	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,291,062 (GRCm38)	T85S	probably benign	Het
Eif4g1	A	T	16: 20,675,345 (GRCm38)	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,322,738 (GRCm38)		probably benign	Het
Fn1	T	A	1: 71,624,110 (GRCm38)	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 47,869,179 (GRCm38)	D599G	unknown	Het
Frrs1	T	C	3: 116,881,807 (GRCm38)	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,949,954 (GRCm38)	D608N	probably damaging	Het
Gm1043	T	C	5: 37,192,973 (GRCm38)		probably benign	Het
Gm5148	T	C	3: 37,714,777 (GRCm38)	E98G	probably benign	Het
Gpr141	T	C	13: 19,752,258 (GRCm38)	I116V	probably benign	Het
Hic1	T	C	11: 75,167,343 (GRCm38)	N240S	probably damaging	Het
Hpx	G	A	7: 105,592,238 (GRCm38)	T322I	probably damaging	Het
Hs3st4	A	T	7: 124,397,193 (GRCm38)	M361L	probably benign	Het
Ifrd1	A	G	12: 40,207,130 (GRCm38)		probably benign	Het
Ino80	G	A	2: 119,382,960 (GRCm38)	R1249C	probably damaging	Het
Klk1b21	T	A	7: 44,105,895 (GRCm38)	C173S	probably damaging	Het
Krt25	A	T	11: 99,322,698 (GRCm38)	V65E	probably benign	Het
Lrrc15	A	T	16: 30,273,449 (GRCm38)	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,851,345 (GRCm38)	V550E	probably benign	Het
Macf1	A	G	4: 123,440,747 (GRCm38)	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,196,916 (GRCm38)		probably benign	Het
Mcm5	T	A	8: 75,120,880 (GRCm38)	V435D	probably damaging	Het
Mctp1	C	T	13: 76,827,712 (GRCm38)	R478C	probably damaging	Het
Med10	T	C	13: 69,811,698 (GRCm38)		probably benign	Het
Mrpl4	T	C	9: 21,008,592 (GRCm38)	Y280H	probably benign	Het
Msrb3	T	C	10: 120,851,987 (GRCm38)	E61G	probably damaging	Het
Myo1c	T	C	11: 75,661,001 (GRCm38)	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,010,151 (GRCm38)	T165S	probably damaging	Het
Myrfl	T	A	10: 116,849,233 (GRCm38)	R81W	probably damaging	Het
Neil1	T	C	9: 57,143,746 (GRCm38)		probably benign	Het
Neto2	A	G	8: 85,641,044 (GRCm38)	I357T	possibly damaging	Het
Nfat5	C	T	8: 107,339,075 (GRCm38)	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,153,591 (GRCm38)	S3P	probably benign	Het
Olfr652	A	T	7: 104,565,003 (GRCm38)	I261L	probably benign	Het
Plce1	T	C	19: 38,524,419 (GRCm38)	I54T	possibly damaging	Het
Prex2	A	T	1: 11,285,043 (GRCm38)		probably benign	Het
Psapl1	T	A	5: 36,204,631 (GRCm38)	V189E	probably damaging	Het
Ptdss2	T	G	7: 141,155,319 (GRCm38)		probably benign	Het
Rnf213	T	C	11: 119,416,496 (GRCm38)	C661R	probably benign	Het
Rpap1	T	C	2: 119,764,899 (GRCm38)		probably null	Het
Rrp1b	A	G	17: 32,060,452 (GRCm38)	T696A	probably benign	Het
Sacm1l	T	A	9: 123,548,917 (GRCm38)	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,377,530 (GRCm38)	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,299,684 (GRCm38)	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,568,614 (GRCm38)		probably benign	Het
Tpst1	T	A	5: 130,101,786 (GRCm38)	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,599,626 (GRCm38)	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,501,315 (GRCm38)	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,262,334 (GRCm38)	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,837,624 (GRCm38)	T616S	probably damaging	Het
Vps13a	G	A	19: 16,660,499 (GRCm38)	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,436,041 (GRCm38)	M328L	probably benign	Het
Zp2	A	G	7: 120,137,200 (GRCm38)	F340S	probably damaging	Het

Other mutations in Bap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Bap1	APN	14	31,253,569 (GRCm38)	missense	probably damaging	0.97
IGL02110:Bap1	APN	14	31,257,414 (GRCm38)	missense	probably damaging	0.97
IGL02740:Bap1	APN	14	31,256,772 (GRCm38)	missense	possibly damaging	0.94
IGL02937:Bap1	APN	14	31,258,327 (GRCm38)	missense	probably benign	0.07
R1221:Bap1	UTSW	14	31,257,651 (GRCm38)	missense	probably damaging	1.00
R2131:Bap1	UTSW	14	31,258,331 (GRCm38)	nonsense	probably null
R2204:Bap1	UTSW	14	31,256,701 (GRCm38)	missense	probably benign	0.10
R3781:Bap1	UTSW	14	31,257,618 (GRCm38)	missense	possibly damaging	0.71
R4882:Bap1	UTSW	14	31,251,721 (GRCm38)	unclassified	probably benign
R4897:Bap1	UTSW	14	31,258,445 (GRCm38)	unclassified	probably benign
R5249:Bap1	UTSW	14	31,257,286 (GRCm38)	unclassified	probably benign
R6548:Bap1	UTSW	14	31,256,225 (GRCm38)	missense	probably benign	0.01
R6990:Bap1	UTSW	14	31,255,651 (GRCm38)	missense	probably benign
R7203:Bap1	UTSW	14	31,254,169 (GRCm38)	missense	probably damaging	1.00
R7212:Bap1	UTSW	14	31,251,623 (GRCm38)	missense	probably damaging	0.99
R7414:Bap1	UTSW	14	31,253,615 (GRCm38)	missense	probably benign	0.05
R7956:Bap1	UTSW	14	31,255,568 (GRCm38)	missense	probably benign	0.11
R8062:Bap1	UTSW	14	31,257,508 (GRCm38)	missense	probably benign	0.38
R8070:Bap1	UTSW	14	31,256,686 (GRCm38)	missense	probably damaging	1.00
R8875:Bap1	UTSW	14	31,253,565 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGCACTTCGCACAGCTAAGAG -3'
(R):5'- TTTGAGGTCGGGCTGAAAGATCAC -3'

Sequencing Primer
(F):5'- ACAGCTAAGAGCCTAGTTATCTTCC -3'
(R):5'- ACATGGTAAGATGTTTACCTCCC -3'

Posted On

2013-04-12