Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01815:Babam2'

154370

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: 0.678) question?

Stock #

IGL01815

Quality Score

Status

Chromosome

Chromosomal Location

31855394-32242083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31859442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 3 (A3V)

Ref Sequence

ENSEMBL: ENSMUSP00000110152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031018] [ENSMUST00000063813] [ENSMUST00000071531] [ENSMUST00000114507] [ENSMUST00000114515] [ENSMUST00000131995] [ENSMUST00000201352] [ENSMUST00000202293] [ENSMUST00000202815] [ENSMUST00000200705]

AlphaFold

Q8K3W0

Predicted Effect

probably benign
Transcript: ENSMUST00000031018

SMART Domains

Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136

Domain	Start	End	E-Value	Type
Pfam:PfkB	16	315	2.1e-66	PFAM
Pfam:Phos_pyr_kin	166	306	9.6e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000063813
AA Change: A49V

SMART Domains

Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: A49V

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

Predicted Effect

unknown
Transcript: ENSMUST00000071531
AA Change: A3V

SMART Domains

Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139
AA Change: A3V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114507
AA Change: A3V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139
AA Change: A3V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114515

SMART Domains

Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131995

SMART Domains

Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201487

Predicted Effect

probably benign
Transcript: ENSMUST00000201352

SMART Domains

Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202293

Predicted Effect

probably benign
Transcript: ENSMUST00000202815

SMART Domains

Protein: ENSMUSP00000144497
Gene: ENSMUSG00000052139

Domain	Start	End	E-Value	Type
Pfam:BRE	8	63	1.2e-14	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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,986,644 (GRCm39)	E324G	probably damaging	Het
Arhgap20	T	A	9: 51,757,468 (GRCm39)	Y487N	probably damaging	Het
Fat4	T	C	3: 38,942,922 (GRCm39)	L605P	probably damaging	Het
Frmpd1	A	G	4: 45,284,239 (GRCm39)	H1020R	probably benign	Het
Ighv1-53	T	A	12: 115,122,217 (GRCm39)	M53L	probably benign	Het
Lepr	A	T	4: 101,671,987 (GRCm39)	I1004F	possibly damaging	Het
Limd1	T	C	9: 123,308,801 (GRCm39)	S167P	probably benign	Het
Lrrc10b	T	C	19: 10,434,117 (GRCm39)	D188G	probably damaging	Het
Nlrp4e	T	C	7: 23,020,863 (GRCm39)	L450P	probably benign	Het
Or56b1	T	A	7: 104,285,552 (GRCm39)	Y224N	probably damaging	Het
Or5b104	A	T	19: 13,073,020 (GRCm39)		probably null	Het
Or7e165	A	G	9: 19,695,311 (GRCm39)	N294S	probably damaging	Het
Or7g21	G	T	9: 19,032,622 (GRCm39)	D121Y	probably damaging	Het
P2ry13	T	C	3: 59,117,121 (GRCm39)	N219S	probably benign	Het
Pcnx1	A	G	12: 82,037,325 (GRCm39)	D1861G	probably damaging	Het
Phlpp2	A	G	8: 110,666,491 (GRCm39)	I1007V	probably benign	Het
Ppp2r1a	A	G	17: 21,177,094 (GRCm39)	N211D	probably benign	Het
Psmd5	A	T	2: 34,742,783 (GRCm39)	F440L	probably benign	Het
Rpe65	T	A	3: 159,310,167 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,528,460 (GRCm39)	T2172A	probably benign	Het
Vwa8	C	T	14: 79,435,717 (GRCm39)	T1809M	possibly damaging	Het
Wdr70	C	T	15: 7,916,805 (GRCm39)		probably null	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
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

2014-02-04