Mutagenetix > Incidental Mutation

Incidental Mutation 'R7414:Bap1'

601434

Institutional Source

Beutler Lab

Gene Symbol

Bap1

Ensembl Gene

ENSMUSG00000021901

Gene Name

Brca1 associated protein 1

Synonyms

2300006C11Rik

MMRRC Submission

045494-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7414 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

30973407-30981901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 30975572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 139 (G139R)

Ref Sequence

ENSEMBL: ENSMUSP00000139824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022458] [ENSMUST00000022459] [ENSMUST00000187156] [ENSMUST00000188453] [ENSMUST00000226310] [ENSMUST00000226565] [ENSMUST00000228437] [ENSMUST00000228930]

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: ENSMUST00000022459

SMART Domains

Protein: ENSMUSP00000022459
Gene: ENSMUSG00000021902

Domain	Start	End	E-Value	Type
PHD	97	145	8.45e-3	SMART
RING	160	207	7.46e-1	SMART
RING	250	300	4.87e0	SMART
PHD	252	301	1.16e0	SMART

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
AA Change: G139R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139824
Gene: ENSMUSG00000021901
AA Change: G139R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226310

Predicted Effect

probably benign
Transcript: ENSMUST00000226565

Predicted Effect

probably benign
Transcript: ENSMUST00000228437

Predicted Effect

probably benign
Transcript: ENSMUST00000228930

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (98/101)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,779 (GRCm39)	T90M	probably damaging	Het
Abca4	T	A	3: 121,896,387 (GRCm39)	S540T	probably benign	Het
Adcy4	G	A	14: 56,019,090 (GRCm39)	L156F	probably benign	Het
Adcyap1	T	A	17: 93,510,256 (GRCm39)	L95M	probably damaging	Het
Ahctf1	T	C	1: 179,611,670 (GRCm39)	T567A	probably benign	Het
Ankrd26	T	C	6: 118,485,741 (GRCm39)	I1378V	possibly damaging	Het
Ankrd44	T	A	1: 54,706,539 (GRCm39)	H639L	probably damaging	Het
Arfrp1	C	T	2: 181,001,307 (GRCm39)	R189Q	possibly damaging	Het
Astn2	T	C	4: 65,459,193 (GRCm39)	D1126G	possibly damaging	Het
Bms1	C	T	6: 118,360,706 (GRCm39)	R1254Q	possibly damaging	Het
Ceacam15	A	G	7: 16,407,235 (GRCm39)	V94A	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cip2a	T	C	16: 48,821,998 (GRCm39)	F209L	probably benign	Het
Clec2m	T	C	6: 129,302,596 (GRCm39)	T144A	probably benign	Het
Clock	T	C	5: 76,410,611 (GRCm39)	T87A	probably benign	Het
Cntrl	A	T	2: 35,055,479 (GRCm39)	I1706L	probably benign	Het
Cr2	C	A	1: 194,832,344 (GRCm39)	V981L	probably benign	Het
Cxcr6	G	A	9: 123,639,287 (GRCm39)	W103*	probably null	Het
Dld	A	T	12: 31,385,525 (GRCm39)	F272Y	probably damaging	Het
Dmrt2	T	A	19: 25,650,950 (GRCm39)	D45E	probably benign	Het
Eif2a	T	A	3: 58,433,502 (GRCm39)	L8*	probably null	Het
Epg5	G	T	18: 78,026,747 (GRCm39)	R1246L	possibly damaging	Het
Ets1	T	A	9: 32,664,153 (GRCm39)	C350*	probably null	Het
Fam135b	C	T	15: 71,350,105 (GRCm39)	R345Q	probably damaging	Het
Fbn2	C	T	18: 58,229,122 (GRCm39)	R696H	probably damaging	Het
Gbf1	C	A	19: 46,271,797 (GRCm39)	Y159*	probably null	Het
Gcsam	T	C	16: 45,437,301 (GRCm39)		probably null	Het
Gmpr2	G	T	14: 55,910,259 (GRCm39)		probably null	Het
H2-T3	C	A	17: 36,498,275 (GRCm39)	V257L	not run	Het
Hadha	A	G	5: 30,331,610 (GRCm39)	F449L	possibly damaging	Het
Haus3	T	A	5: 34,323,477 (GRCm39)	I378L	probably benign	Het
Hdac7	T	A	15: 97,706,392 (GRCm39)	H272L	probably benign	Het
Icam5	T	C	9: 20,948,889 (GRCm39)	V747A	probably damaging	Het
Ifrd2	G	A	9: 107,467,370 (GRCm39)	V81M	possibly damaging	Het
Insyn2a	G	T	7: 134,519,738 (GRCm39)	A264D	probably benign	Het
Ipcef1	G	T	10: 6,840,673 (GRCm39)	C345*	probably null	Het
Ipmk	T	A	10: 71,217,124 (GRCm39)	F223I	probably damaging	Het
Itpr2	A	T	6: 146,274,706 (GRCm39)	N825K	probably benign	Het
Itprid2	A	G	2: 79,475,072 (GRCm39)	K344E	possibly damaging	Het
Kazn	G	A	4: 141,836,649 (GRCm39)	T530I		Het
Kmt2d	C	T	15: 98,737,737 (GRCm39)	V5120M	unknown	Het
Krt6b	T	G	15: 101,587,449 (GRCm39)	D215A	probably benign	Het
Lgals12	T	C	19: 7,581,335 (GRCm39)	K124R	probably damaging	Het
Lpar6	T	A	14: 73,476,240 (GRCm39)	V67D	probably damaging	Het
Lrch3	T	C	16: 32,818,883 (GRCm39)	Y661H	probably damaging	Het
Lrrc32	A	T	7: 98,149,201 (GRCm39)	Q660H	probably benign	Het
Lurap1l	T	A	4: 80,871,991 (GRCm39)	H161Q	probably benign	Het
Map3k19	A	G	1: 127,766,189 (GRCm39)	I245T	probably damaging	Het
Mcf2l	T	A	8: 13,069,022 (GRCm39)	*1119K	probably null	Het
Mertk	C	A	2: 128,571,313 (GRCm39)	A89E	possibly damaging	Het
Mical3	A	T	6: 121,011,074 (GRCm39)	Y375N	probably damaging	Het
Myo15a	T	A	11: 60,374,309 (GRCm39)	D121E		Het
N4bp2l1	T	A	5: 150,499,758 (GRCm39)	N116I	probably damaging	Het
Nbeal1	T	C	1: 60,233,756 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,289,977 (GRCm39)	D178E	probably benign	Het
Nt5c2	C	A	19: 46,878,328 (GRCm39)	G444C	probably damaging	Het
Or10g7	T	A	9: 39,905,349 (GRCm39)	M81K	possibly damaging	Het
Or2f1b	T	A	6: 42,739,762 (GRCm39)	Y259N	probably damaging	Het
Or8b48	T	C	9: 38,492,764 (GRCm39)	F64L	probably benign	Het
Pdcl2	A	C	5: 76,460,359 (GRCm39)	S220A	possibly damaging	Het
Pip5kl1	T	C	2: 32,468,247 (GRCm39)	S138P	possibly damaging	Het
Pkd1l1	A	T	11: 8,866,267 (GRCm39)	N979K		Het
Prkcb	A	T	7: 122,167,450 (GRCm39)	T387S	possibly damaging	Het
Pxdc1	A	G	13: 34,821,135 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 109,913,271 (GRCm39)	E1668K	possibly damaging	Het
Sec16a	T	G	2: 26,313,643 (GRCm39)	T455P		Het
Sec24b	C	A	3: 129,803,514 (GRCm39)	V412F	probably benign	Het
Serpina3b	A	G	12: 104,099,145 (GRCm39)	N220S	probably benign	Het
Sgip1	C	T	4: 102,824,821 (GRCm39)	Q581*	probably null	Het
Shf	A	T	2: 122,190,063 (GRCm39)	I175N	possibly damaging	Het
Slc16a10	G	A	10: 40,017,992 (GRCm39)	T14M	probably benign	Het
Slc22a4	A	T	11: 53,888,254 (GRCm39)	M258K	probably benign	Het
Slfn8	A	T	11: 82,907,618 (GRCm39)	Y308*	probably null	Het
Slfnl1	T	C	4: 120,392,451 (GRCm39)	Y249H	probably damaging	Het
Smchd1	T	C	17: 71,782,074 (GRCm39)	Y29C	probably damaging	Het
Snai1	C	A	2: 167,380,588 (GRCm39)		probably null	Het
Sntg1	T	C	1: 8,518,289 (GRCm39)	Y368C	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spop	G	A	11: 95,365,334 (GRCm39)	V126M	probably damaging	Het
Taar3	A	T	10: 23,825,715 (GRCm39)	Y87F	probably damaging	Het
Tarm1	C	A	7: 3,545,318 (GRCm39)	M177I	probably benign	Het
Tcerg1l	A	G	7: 137,819,786 (GRCm39)	F485L	probably damaging	Het
Thsd7b	A	T	1: 129,556,717 (GRCm39)	I435F	probably damaging	Het
Tiam2	A	G	17: 3,464,388 (GRCm39)	D39G	possibly damaging	Het
Tigd4	T	C	3: 84,501,128 (GRCm39)	V15A	probably benign	Het
Tll2	T	C	19: 41,092,268 (GRCm39)	D523G	probably damaging	Het
Tmem117	A	G	15: 94,612,776 (GRCm39)	D104G	probably damaging	Het
Tmem132b	T	C	5: 125,864,555 (GRCm39)	L887P	probably damaging	Het
Tnfrsf26	A	T	7: 143,168,642 (GRCm39)	V132D	probably damaging	Het
Tomt	T	A	7: 101,549,715 (GRCm39)	D191V	probably damaging	Het
Ttc39b	T	C	4: 83,160,459 (GRCm39)	M373V	probably damaging	Het
Ttn	G	A	2: 76,568,493 (GRCm39)	P27467S	possibly damaging	Het
Ttn	A	C	2: 76,573,130 (GRCm39)	V25921G	probably damaging	Het
Ubxn2a	A	C	12: 4,941,381 (GRCm39)	V75G	probably damaging	Het
Uchl5	A	T	1: 143,682,433 (GRCm39)	K319N	unknown	Het
Ugt2b1	T	C	5: 87,073,693 (GRCm39)	D222G	probably damaging	Het
Vmn1r213	A	G	13: 23,195,446 (GRCm39)	I10V	unknown	Het
Vps13b	T	C	15: 35,910,973 (GRCm39)	I3579T	probably damaging	Het
Xpo5	T	A	17: 46,532,295 (GRCm39)	H443Q	probably benign	Het
Zfp316	A	G	5: 143,250,407 (GRCm39)	M2T	unknown	Het
Zscan4-ps2	A	G	7: 11,251,359 (GRCm39)	T160A	possibly damaging	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
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'- TCAATAAGTGTGGGCATGGG -3'
(R):5'- GGTCTGACCCAGATCACTTAAGTC -3'

Sequencing Primer
(F):5'- TGTCTGGGGTAAAGAGTATATGAG -3'
(R):5'- GACCCAGATCACTTAAGTCTTTTC -3'

Posted On

2019-12-02