Mutagenetix > Incidental Mutation

Incidental Mutation 'R4738:Babam2'

359415

Institutional Source

Beutler Lab

Gene Symbol

Babam2

Ensembl Gene

ENSMUSG00000052139

Gene Name

BRISC and BRCA1 A complex member 2

Synonyms

B830038C02Rik, 6030405P19Rik, Bre

MMRRC Submission

041964-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31855394-32242083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32058486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 211 (Y211N)

Ref Sequence

ENSEMBL: ENSMUSP00000071462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063813] [ENSMUST00000071531] [ENSMUST00000114507] [ENSMUST00000114515] [ENSMUST00000131995] [ENSMUST00000200705] [ENSMUST00000201352]

AlphaFold

Q8K3W0

Predicted Effect

probably damaging
Transcript: ENSMUST00000063813
AA Change: Y257N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: Y257N

Domain	Start	End	E-Value	Type
Pfam:BRE	70	370	3.4e-133	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071531
AA Change: Y211N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139
AA Change: Y211N

Domain	Start	End	E-Value	Type
Pfam:BRE	28	324	2.2e-204	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114507
AA Change: Y156N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139
AA Change: Y156N

Domain	Start	End	E-Value	Type
Pfam:BRE	3	269	9.5e-182	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114515
AA Change: Y220N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139
AA Change: Y220N

Domain	Start	End	E-Value	Type
Pfam:BRE	1	333	4.9e-235	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125589
AA Change: Y195N

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132403
Gene: ENSMUSG00000052139
AA Change: Y195N

Domain	Start	End	E-Value	Type
Pfam:BRE	1	166	2.4e-120	PFAM
Pfam:BRE	166	204	2.1e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131995
AA Change: Y82N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139
AA Change: Y82N

Domain	Start	End	E-Value	Type
Pfam:BRE	1	195	4.3e-131	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200705
AA Change: Y195N

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143964
Gene: ENSMUSG00000052139
AA Change: Y195N

Domain	Start	End	E-Value	Type
Pfam:BRE	8	204	1.6e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201107

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201352
AA Change: Y220N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139
AA Change: Y220N

Domain	Start	End	E-Value	Type
Pfam:BRE	8	333	8.1e-146	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are fertile. However, fibroblasts exhibit decreased proliferation and increased cellular replicative senescence in response to irradiation and hydrogen peroxide with impaired DNA damage repair. [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
Abcg3	A	G	5: 105,121,849 (GRCm39)	I176T	probably benign	Het
Abtb3	C	T	10: 85,463,112 (GRCm39)	Q626*	probably null	Het
Angpt2	C	T	8: 18,791,075 (GRCm39)	D74N	probably benign	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Areg	T	C	5: 91,294,583 (GRCm39)	I247T	possibly damaging	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,556,062 (GRCm39)	S246T	probably benign	Het
Atp8b1	T	C	18: 64,678,251 (GRCm39)	R882G	probably benign	Het
Atp9a	A	G	2: 168,510,101 (GRCm39)	V444A	probably benign	Het
Ccdc127	T	G	13: 74,505,187 (GRCm39)		probably benign	Het
Cep192	A	T	18: 68,017,901 (GRCm39)	K2500*	probably null	Het
Cnot4	T	C	6: 35,028,311 (GRCm39)	N435S	probably benign	Het
Col12a1	T	C	9: 79,606,564 (GRCm39)	I620V	probably damaging	Het
Cyth4	G	A	15: 78,490,074 (GRCm39)	M62I	probably benign	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dchs1	C	T	7: 105,407,880 (GRCm39)	R1984Q	probably damaging	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Disp2	A	G	2: 118,620,807 (GRCm39)	Y513C	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,415,833 (GRCm39)	M384K	probably benign	Het
Emc1	G	T	4: 139,089,513 (GRCm39)	G227V	possibly damaging	Het
Eri2	A	G	7: 119,386,955 (GRCm39)		probably null	Het
Frzb	A	G	2: 80,254,941 (GRCm39)		probably null	Het
Ganc	T	A	2: 120,283,075 (GRCm39)	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,031,729 (GRCm39)		probably benign	Het
Gm3086	A	T	12: 70,016,155 (GRCm39)		probably benign	Het
Gsdmc2	A	T	15: 63,698,650 (GRCm39)	Y315*	probably null	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Hhip	C	T	8: 80,719,199 (GRCm39)	D443N	probably damaging	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Kank2	T	C	9: 21,685,915 (GRCm39)	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,329,907 (GRCm39)	R345S	probably benign	Het
Larp7	A	G	3: 127,339,694 (GRCm39)		probably null	Het
Lgals12	A	G	19: 7,581,464 (GRCm39)	V81A	probably benign	Het
Lhx9	A	G	1: 138,760,486 (GRCm39)	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,264,456 (GRCm39)	H213L	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Neb	A	C	2: 52,077,494 (GRCm39)	S1846A	probably damaging	Het
Nr3c2	T	C	8: 77,635,936 (GRCm39)	S346P	possibly damaging	Het
Obi1	C	T	14: 104,747,819 (GRCm39)	D43N	probably damaging	Het
Or10h5	A	G	17: 33,434,784 (GRCm39)	F178S	probably benign	Het
Or1e1c	G	T	11: 73,266,176 (GRCm39)	L200F	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or5h19	T	C	16: 58,856,558 (GRCm39)	I181V	probably benign	Het
Or5p63	A	T	7: 107,811,201 (GRCm39)	N178K	probably damaging	Het
Osbpl10	A	G	9: 115,045,642 (GRCm39)	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,887,234 (GRCm39)	V210A	probably damaging	Het
Pam	A	T	1: 97,850,857 (GRCm39)	V167D	probably damaging	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Pbx4	C	T	8: 70,317,619 (GRCm39)	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,536,468 (GRCm39)	C821R	probably benign	Het
Plekhg3	T	C	12: 76,623,688 (GRCm39)	I976T	probably damaging	Het
Pold1	G	A	7: 44,190,753 (GRCm39)	R304C	probably damaging	Het
Prss38	T	C	11: 59,263,771 (GRCm39)	T314A	probably benign	Het
Psph	T	C	5: 129,846,450 (GRCm39)		probably null	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,862,173 (GRCm39)	E648G	probably damaging	Het
Ralgds	A	G	2: 28,435,428 (GRCm39)	E465G	probably damaging	Het
Rfng	T	C	11: 120,674,790 (GRCm39)	T67A	probably damaging	Het
Rps6kl1	G	T	12: 85,187,161 (GRCm39)	F181L	probably benign	Het
Spata46	G	A	1: 170,139,455 (GRCm39)	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Sspo	C	T	6: 48,455,330 (GRCm39)	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,704,396 (GRCm39)	I231T	probably damaging	Het
Tff3	G	A	17: 31,346,483 (GRCm39)	P30S	probably benign	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,147,708 (GRCm39)	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,223,569 (GRCm39)	T14A	probably damaging	Het
Tspan17	T	A	13: 54,942,877 (GRCm39)	C116*	probably null	Het
Ttn	T	C	2: 76,710,890 (GRCm39)		probably benign	Het
Tyr	T	C	7: 87,141,855 (GRCm39)	Y158C	probably null	Het
U2af1l4	G	T	7: 30,262,773 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,282,939 (GRCm39)	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,129,902 (GRCm39)	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,917,183 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,977,111 (GRCm39)	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,465,229 (GRCm39)	F345I	probably benign	Het
Zswim2	T	A	2: 83,745,739 (GRCm39)	R566S	probably benign	Het

Other mutations in Babam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Babam2	APN	5	32,164,651 (GRCm39)	missense	probably damaging	1.00
IGL01815:Babam2	APN	5	31,859,442 (GRCm39)	missense	possibly damaging	0.90
IGL02869:Babam2	APN	5	32,162,116 (GRCm39)	missense	possibly damaging	0.92
IGL03091:Babam2	APN	5	31,943,022 (GRCm39)	splice site	probably null
IGL03185:Babam2	APN	5	31,859,376 (GRCm39)	missense	possibly damaging	0.60
R1817:Babam2	UTSW	5	32,214,890 (GRCm39)	missense	probably damaging	0.99
R4012:Babam2	UTSW	5	32,158,782 (GRCm39)	missense	probably damaging	1.00
R4257:Babam2	UTSW	5	31,859,414 (GRCm39)	missense	possibly damaging	0.76
R4522:Babam2	UTSW	5	32,164,586 (GRCm39)	missense	probably damaging	1.00
R4622:Babam2	UTSW	5	32,164,656 (GRCm39)	missense	probably damaging	0.99
R4752:Babam2	UTSW	5	31,859,391 (GRCm39)	intron	probably benign
R4927:Babam2	UTSW	5	31,859,408 (GRCm39)	missense	probably benign	0.00
R4962:Babam2	UTSW	5	31,942,927 (GRCm39)	missense	possibly damaging	0.75
R5374:Babam2	UTSW	5	32,164,574 (GRCm39)	splice site	probably benign
R5375:Babam2	UTSW	5	31,859,207 (GRCm39)	missense	possibly damaging	0.52
R5453:Babam2	UTSW	5	32,164,590 (GRCm39)	missense	probably damaging	1.00
R5890:Babam2	UTSW	5	32,222,151 (GRCm39)	intron	probably benign
R5915:Babam2	UTSW	5	31,942,955 (GRCm39)	missense	probably damaging	1.00
R5982:Babam2	UTSW	5	31,977,964 (GRCm39)	missense	possibly damaging	0.86
R6271:Babam2	UTSW	5	32,158,706 (GRCm39)	missense	probably damaging	1.00
R7268:Babam2	UTSW	5	31,859,197 (GRCm39)	missense	probably damaging	1.00
R7352:Babam2	UTSW	5	32,164,594 (GRCm39)	nonsense	probably null
R7422:Babam2	UTSW	5	31,888,393 (GRCm39)	splice site	probably null
R9182:Babam2	UTSW	5	32,058,401 (GRCm39)	missense	possibly damaging	0.76
R9336:Babam2	UTSW	5	31,859,194 (GRCm39)	start codon destroyed	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- ATGGTTCCATGCCATGTGG -3'
(R):5'- GTGTGCACTCATATATACACAAGG -3'

Sequencing Primer
(F):5'- AAGCATGGTGTGATGATACATGCTC -3'
(R):5'- AAGAAGAGATGAATAGGTTTCT -3'

Posted On

2015-11-11