Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00844:Babam2'

12498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Babam2

Ensembl Gene

ENSMUSG00000052139

Gene Name

BRISC and BRCA1 A complex member 2

Synonyms

B830038C02Rik, 6030405P19Rik, Bre

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

IGL00844

Quality Score

Status

Chromosome

Chromosomal Location

31855394-32242083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32164651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 299 (F299L)

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: F345L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: F345L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071531
AA Change: F299L

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

SMART Domains

Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139
AA Change: F299L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114507
AA Change: F244L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139
AA Change: F244L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114515
AA Change: F308L

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139
AA Change: F308L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131995
AA Change: F170L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139
AA Change: F170L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200705

SMART Domains

Protein: ENSMUSP00000143964
Gene: ENSMUSG00000052139

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201107

Predicted Effect

probably damaging
Transcript: ENSMUST00000201352
AA Change: F308L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139
AA Change: F308L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201542

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,384,956 (GRCm39)	C336*	probably null	Het
Adgrv1	T	C	13: 81,688,238 (GRCm39)	D994G	probably damaging	Het
Arhgap36	G	T	X: 48,586,631 (GRCm39)	Q421H	probably damaging	Het
Arhgef17	A	G	7: 100,578,656 (GRCm39)	V764A	probably benign	Het
Atf7ip	T	C	6: 136,537,679 (GRCm39)	V304A	probably benign	Het
Ceacam11	T	G	7: 17,707,595 (GRCm39)	D126E	possibly damaging	Het
Dlg3	C	A	X: 99,850,199 (GRCm39)	H197Q	probably damaging	Het
Dnmt3a	T	A	12: 3,955,622 (GRCm39)	L590Q	probably damaging	Het
Fras1	A	G	5: 96,682,712 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,515,598 (GRCm39)	F79L	probably benign	Het
Gabbr2	A	G	4: 46,875,711 (GRCm39)	V137A	probably damaging	Het
Gphn	T	C	12: 78,711,342 (GRCm39)		probably benign	Het
Hnrnpr	A	G	4: 136,066,516 (GRCm39)	I399M	probably benign	Het
Madd	A	C	2: 90,998,213 (GRCm39)	S636A	probably damaging	Het
Pi15	T	C	1: 17,691,764 (GRCm39)		probably benign	Het
Ppp3cb	A	T	14: 20,581,754 (GRCm39)	M87K	possibly damaging	Het
Ptpro	C	A	6: 137,391,237 (GRCm39)	H786N	probably damaging	Het
Rnase11	T	C	14: 51,287,213 (GRCm39)	I114V	possibly damaging	Het
Sirt4	A	G	5: 115,617,685 (GRCm39)		probably null	Het
Stab1	T	C	14: 30,869,023 (GRCm39)	D1534G	probably damaging	Het
Sulf2	A	G	2: 165,936,412 (GRCm39)	S185P	possibly damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tdrd6	A	G	17: 43,928,087 (GRCm39)	M2102T	probably benign	Het
Ttll5	T	C	12: 85,890,600 (GRCm39)	V77A	probably damaging	Het
Usp9x	T	G	X: 12,994,685 (GRCm39)	S959A	probably benign	Het
Vps50	C	T	6: 3,532,177 (GRCm39)	Q227*	probably null	Het
Zfp57	C	A	17: 37,320,514 (GRCm39)	Q120K	possibly damaging	Het
Zswim2	T	C	2: 83,754,115 (GRCm39)	N182D	probably benign	Het

Other mutations in Babam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4738:Babam2	UTSW	5	32,058,486 (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

Posted On

2012-12-06