Mutagenetix > Incidental Mutation

Incidental Mutation 'R8070:Bap1'

620257

Institutional Source

Beutler Lab

Gene Symbol

Bap1

Ensembl Gene

ENSMUSG00000021901

Gene Name

Brca1 associated protein 1

Synonyms

2300006C11Rik

MMRRC Submission

067505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30973407-30981901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30978643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 381 (V381E)

Ref Sequence

ENSEMBL: ENSMUSP00000022458 (fasta)

Gene Model

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

AlphaFold

Q99PU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022458
AA Change: V381E

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

SMART Domains

Protein: ENSMUSP00000022458
Gene: ENSMUSG00000021901
AA Change: V381E

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

probably damaging
Transcript: ENSMUST00000187156
AA Change: V18E

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

SMART Domains

Protein: ENSMUSP00000139903
Gene: ENSMUSG00000021901
AA Change: V18E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,510 (GRCm39)	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,452,681 (GRCm39)	F86S	probably damaging	Het
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Acta1	T	A	8: 124,620,360 (GRCm39)	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,403,502 (GRCm39)	L196R	probably damaging	Het
Agbl2	G	A	2: 90,621,909 (GRCm39)	C132Y	probably benign	Het
Amd1	A	G	10: 40,170,226 (GRCm39)	V92A	probably benign	Het
Arid4b	T	A	13: 14,310,844 (GRCm39)	I149K	probably benign	Het
Atg7	A	G	6: 114,674,041 (GRCm39)	M312V	probably benign	Het
Cbfa2t3	C	T	8: 123,369,720 (GRCm39)	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,870,030 (GRCm39)	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,867,606 (GRCm39)	V479L	probably benign	Het
Chd2	A	G	7: 73,101,506 (GRCm39)	S1407P	probably benign	Het
Clstn2	A	G	9: 97,681,523 (GRCm39)	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,578,806 (GRCm39)	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,386,180 (GRCm39)	D351E	probably benign	Het
Dennd6b	T	C	15: 89,069,576 (GRCm39)	I517V	probably benign	Het
Dnah17	T	C	11: 117,915,497 (GRCm39)	E4374G	probably damaging	Het
Emsy	A	G	7: 98,275,922 (GRCm39)	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,208,841 (GRCm39)	E65D	probably benign	Het
Fam83f	T	A	15: 80,556,281 (GRCm39)	L55Q	probably damaging	Het
Fry	T	C	5: 150,401,472 (GRCm39)	F379L		Het
Fscb	A	T	12: 64,521,382 (GRCm39)	M28K	probably benign	Het
Gas7	G	A	11: 67,574,260 (GRCm39)	V412M	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	T	A	5: 115,727,057 (GRCm39)	V638E	probably benign	Het
Ggt1	A	T	10: 75,414,733 (GRCm39)	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,368,629 (GRCm39)	N1103S	probably benign	Het
Gm5592	G	A	7: 40,935,887 (GRCm39)	A130T	possibly damaging	Het
Gys2	T	C	6: 142,394,230 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,743 (GRCm39)	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,843,656 (GRCm39)	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,051,089 (GRCm39)	T89M	probably damaging	Het
Ipo7	A	G	7: 109,652,014 (GRCm39)	D931G	probably benign	Het
Jakmip1	A	G	5: 37,330,631 (GRCm39)	E437G	probably benign	Het
Lingo3	C	T	10: 80,671,955 (GRCm39)		probably benign	Het
Lnpep	A	G	17: 17,758,900 (GRCm39)	S815P	probably damaging	Het
Ly6a	T	C	15: 74,869,449 (GRCm39)	D2G	probably damaging	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mapk8ip3	A	T	17: 25,120,078 (GRCm39)		probably null	Het
Mecom	T	C	3: 30,033,987 (GRCm39)	E239G	probably damaging	Het
Mug1	T	C	6: 121,852,838 (GRCm39)	V889A	probably benign	Het
Myo18b	T	A	5: 112,938,986 (GRCm39)	N1675I	probably benign	Het
Ndrg4	T	C	8: 96,426,756 (GRCm39)	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,508,293 (GRCm39)	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Olfm3	A	G	3: 114,895,604 (GRCm39)	D195G	probably damaging	Het
Or2y14	A	T	11: 49,404,941 (GRCm39)	T159S	probably damaging	Het
Or4p21	G	T	2: 88,277,003 (GRCm39)	T93K	probably benign	Het
Pds5a	A	G	5: 65,809,741 (GRCm39)	L407P	possibly damaging	Het
Pgm2	A	G	5: 64,269,425 (GRCm39)	N504S	probably benign	Het
Plce1	A	G	19: 38,690,283 (GRCm39)	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,414,209 (GRCm39)	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,803,807 (GRCm39)	S451G	probably benign	Het
Prox1	T	G	1: 189,893,107 (GRCm39)	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,195,199 (GRCm39)	R1195S	probably damaging	Het
Rere	A	G	4: 150,701,832 (GRCm39)	D37G	probably damaging	Het
Tfip11	T	A	5: 112,482,796 (GRCm39)	M560K	possibly damaging	Het
Thop1	T	C	10: 80,915,320 (GRCm39)	V260A	probably damaging	Het
Tle6	A	G	10: 81,434,476 (GRCm39)	M41T	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,249 (GRCm39)	S68P	possibly damaging	Het
Trim24	A	G	6: 37,934,661 (GRCm39)	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,255,433 (GRCm39)	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,571,695 (GRCm39)	I502V	probably benign	Het
Vmn2r79	A	T	7: 86,651,336 (GRCm39)	Y245F	probably benign	Het

Other mutations in Bap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Bap1	APN	14	30,975,526 (GRCm39)	missense	probably damaging	0.97
IGL02110:Bap1	APN	14	30,979,371 (GRCm39)	missense	probably damaging	0.97
IGL02740:Bap1	APN	14	30,978,729 (GRCm39)	missense	possibly damaging	0.94
IGL02937:Bap1	APN	14	30,980,284 (GRCm39)	missense	probably benign	0.07
R0138:Bap1	UTSW	14	30,978,681 (GRCm39)	missense	probably damaging	1.00
R1221:Bap1	UTSW	14	30,979,608 (GRCm39)	missense	probably damaging	1.00
R2131:Bap1	UTSW	14	30,980,288 (GRCm39)	nonsense	probably null
R2204:Bap1	UTSW	14	30,978,658 (GRCm39)	missense	probably benign	0.10
R3781:Bap1	UTSW	14	30,979,575 (GRCm39)	missense	possibly damaging	0.71
R4882:Bap1	UTSW	14	30,973,678 (GRCm39)	unclassified	probably benign
R4897:Bap1	UTSW	14	30,980,402 (GRCm39)	unclassified	probably benign
R5249:Bap1	UTSW	14	30,979,243 (GRCm39)	unclassified	probably benign
R6548:Bap1	UTSW	14	30,978,182 (GRCm39)	missense	probably benign	0.01
R6990:Bap1	UTSW	14	30,977,608 (GRCm39)	missense	probably benign
R7203:Bap1	UTSW	14	30,976,126 (GRCm39)	missense	probably damaging	1.00
R7212:Bap1	UTSW	14	30,973,580 (GRCm39)	missense	probably damaging	0.99
R7414:Bap1	UTSW	14	30,975,572 (GRCm39)	missense	probably benign	0.05
R7956:Bap1	UTSW	14	30,977,525 (GRCm39)	missense	probably benign	0.11
R8062:Bap1	UTSW	14	30,979,465 (GRCm39)	missense	probably benign	0.38
R8875:Bap1	UTSW	14	30,975,522 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTGGGTATACTCCTTGGCAC -3'
(R):5'- CTACTGTTCTCTCAGACGCAGG -3'

Sequencing Primer
(F):5'- GGCACATGGGAAAGTTTCTCC -3'
(R):5'- TCTCAGACGCAGGGTGGAATATTG -3'

Posted On

2020-01-23