Mutagenetix > Incidental Mutation

Incidental Mutation 'R4897:Bap1'

375838

Institutional Source

Beutler Lab

Gene Symbol

Bap1

Ensembl Gene

ENSMUSG00000021901

Gene Name

Brca1 associated protein 1

Synonyms

2300006C11Rik

MMRRC Submission

042501-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30973407-30981901 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 30980402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139824 (fasta)

Gene Model

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

AlphaFold

Q99PU7

Predicted Effect

probably benign
Transcript: ENSMUST00000022458

SMART Domains

Protein: ENSMUSP00000022458
Gene: ENSMUSG00000021901

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 benign
Transcript: ENSMUST00000187156

SMART Domains

Protein: ENSMUSP00000139903
Gene: ENSMUSG00000021901

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: ENSMUST00000189834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228429

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (79/79)

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
4930402F06Rik	C	A	2: 35,266,309 (GRCm39)	M120I	probably damaging	Het
4933427D14Rik	A	T	11: 72,082,342 (GRCm39)	L328Q	probably damaging	Het
Adgrv1	A	C	13: 81,709,704 (GRCm39)		probably null	Het
Ankrd46	A	T	15: 36,484,279 (GRCm39)		probably benign	Het
Arhgef18	A	T	8: 3,494,979 (GRCm39)	M413L	probably benign	Het
Atp6v1e1	G	A	6: 120,781,044 (GRCm39)	T87M	probably null	Het
Brf1	A	G	12: 112,929,507 (GRCm39)	L385P	probably benign	Het
C1qtnf1	A	T	11: 118,338,938 (GRCm39)	N203Y	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccnjl	A	C	11: 43,470,718 (GRCm39)	D162A	probably damaging	Het
Cd248	A	C	19: 5,119,195 (GRCm39)	I348L	probably benign	Het
Cdc20	T	C	4: 118,293,029 (GRCm39)	T265A	probably benign	Het
Cdca5	T	A	19: 6,140,427 (GRCm39)	L196*	probably null	Het
Cdk4	T	A	10: 126,900,444 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Clec4b2	G	T	6: 123,177,999 (GRCm39)	E105*	probably null	Het
Dapk1	T	A	13: 60,909,600 (GRCm39)	D1404E	probably benign	Het
Dnah1	T	C	14: 30,989,496 (GRCm39)	Y3308C	probably damaging	Het
Dnah17	A	C	11: 117,969,419 (GRCm39)	Y2260D	probably damaging	Het
Dock8	T	G	19: 25,159,001 (GRCm39)	S1720A	probably benign	Het
Erc1	A	G	6: 119,754,947 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,848,597 (GRCm39)	I66V	probably benign	Het
Fam186a	T	C	15: 99,843,158 (GRCm39)	T1029A	possibly damaging	Het
Fat4	A	T	3: 39,034,781 (GRCm39)	Y2811F	probably damaging	Het
Flt3	A	G	5: 147,306,110 (GRCm39)	M310T	probably damaging	Het
Ganab	T	A	19: 8,892,355 (GRCm39)	C844S	probably benign	Het
Gas2l2	C	A	11: 83,320,041 (GRCm39)	V72F	probably damaging	Het
Gm14401	T	A	2: 176,778,573 (GRCm39)	C220S	probably damaging	Het
Hmmr	A	T	11: 40,619,261 (GRCm39)	V73E	probably benign	Het
Idi2l	T	G	13: 8,990,637 (GRCm39)		probably benign	Het
Ifih1	G	T	2: 62,465,358 (GRCm39)		probably benign	Het
Jak3	A	G	8: 72,138,048 (GRCm39)	E833G	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Ldb1	G	A	19: 46,023,132 (GRCm39)	A217V	probably benign	Het
Lrrc8c	A	G	5: 105,755,955 (GRCm39)	T577A	probably benign	Het
Mfn1	T	A	3: 32,600,711 (GRCm39)		probably benign	Het
Mki67	G	A	7: 135,298,474 (GRCm39)	P2187S	probably damaging	Het
Mrc1	T	A	2: 14,323,952 (GRCm39)	D1096E	probably benign	Het
Msi1	A	G	5: 115,573,654 (GRCm39)		probably benign	Het
Msto1	T	A	3: 88,819,559 (GRCm39)	I152F	probably benign	Het
Myo9a	A	G	9: 59,803,800 (GRCm39)	R2060G	probably benign	Het
Nnt	A	T	13: 119,541,107 (GRCm39)	C44*	probably null	Het
Nup210l	A	G	3: 90,100,378 (GRCm39)	D1468G	probably damaging	Het
Or1j16	T	C	2: 36,530,906 (GRCm39)	L285P	probably damaging	Het
Or4c10b	A	G	2: 89,711,476 (GRCm39)	E102G	probably benign	Het
Or5d46	C	A	2: 88,174,686 (GRCm39)	C129F	possibly damaging	Het
Or7a40	T	C	16: 16,491,482 (GRCm39)	D121G	probably damaging	Het
P2rx3	G	A	2: 84,855,270 (GRCm39)	T62I	probably damaging	Het
Pabpc4l	G	T	3: 46,401,578 (GRCm39)	T22K	probably damaging	Het
Pcdha7	A	G	18: 37,108,646 (GRCm39)	D557G	probably damaging	Het
Pcdhb20	A	G	18: 37,639,298 (GRCm39)	K608R	possibly damaging	Het
Pcnx1	A	G	12: 81,964,939 (GRCm39)	S369G	probably damaging	Het
Plod1	T	C	4: 148,004,736 (GRCm39)	I455V	probably benign	Het
Prune2	A	T	19: 17,099,219 (GRCm39)	E1574D	probably benign	Het
Ptar1	T	A	19: 23,680,472 (GRCm39)	L96H	probably damaging	Het
Rabgap1	T	C	2: 37,450,583 (GRCm39)	S904P	probably benign	Het
Rps6ka4	C	T	19: 6,815,467 (GRCm39)	V176I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Runx1t1	T	A	4: 13,771,459 (GRCm39)	M1K	probably null	Het
Serinc4	T	A	2: 121,282,905 (GRCm39)	Y419F	probably damaging	Het
Serpina12	A	T	12: 104,004,056 (GRCm39)	M192K	possibly damaging	Het
Spata21	T	A	4: 140,832,261 (GRCm39)	M474K	probably damaging	Het
Stpg1	T	C	4: 135,246,676 (GRCm39)	S135P	possibly damaging	Het
Tdrkh	A	G	3: 94,336,671 (GRCm39)	D481G	probably damaging	Het
Ube2e1	A	C	14: 18,285,268 (GRCm38)	S68R	probably damaging	Het
Vcpip1	A	C	1: 9,817,572 (GRCm39)	N270K	probably damaging	Het
Vmn2r79	T	C	7: 86,650,675 (GRCm39)	F154L	probably benign	Het
Vwa3b	A	G	1: 37,153,684 (GRCm39)		probably benign	Het
Xdh	C	A	17: 74,207,703 (GRCm39)	V885L	probably benign	Het
Zfp141	A	T	7: 42,125,629 (GRCm39)	V281D	probably benign	Het
Zfp317	T	A	9: 19,558,143 (GRCm39)	I119N	probably benign	Het
Zfp345	G	A	2: 150,314,608 (GRCm39)	R310C	probably benign	Het
Zfp760	G	A	17: 21,942,229 (GRCm39)	C468Y	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
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
R8070:Bap1	UTSW	14	30,978,643 (GRCm39)	missense	probably damaging	1.00
R8875:Bap1	UTSW	14	30,975,522 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAGCTTTGGTGCCAGTC -3'
(R):5'- GGCCAAAGGTGAAGTCTTGG -3'

Sequencing Primer
(F):5'- CAGGCCCCTAAGGTATACAATGTTG -3'
(R):5'- CCAAAGGTGAAGTCTTGGGGGAG -3'

Posted On

2016-03-17