Mutagenetix > Incidental Mutation

Incidental Mutation 'R5453:Babam2'

432619

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

043017-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R5453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31855394-32242083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32164590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 288 (E288G)

Ref Sequence

ENSEMBL: ENSMUSP00000110160 (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: E325G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: E325G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071531
AA Change: E279G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139
AA Change: E279G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114507
AA Change: E224G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139
AA Change: E224G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114515
AA Change: E288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139
AA Change: E288G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131995
AA Change: E150G

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

SMART Domains

Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139
AA Change: E150G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169577
AA Change: S472P

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

probably damaging
Transcript: ENSMUST00000201352
AA Change: E288G

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

SMART Domains

Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139
AA Change: E288G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201107

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Adamts20	T	C	15: 94,223,969 (GRCm39)	E1253G	possibly damaging	Het
Adgrd1	T	C	5: 129,256,647 (GRCm39)	F640S	probably damaging	Het
Anxa1	C	T	19: 20,357,703 (GRCm39)		probably null	Het
Cd163	C	T	6: 124,289,500 (GRCm39)	A406V	probably damaging	Het
Cdh13	A	T	8: 119,925,706 (GRCm39)	D358V	probably damaging	Het
Cdk10	A	G	8: 123,953,131 (GRCm39)	I45V	probably benign	Het
Crybg2	A	T	4: 133,806,147 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Dync1h1	A	G	12: 110,599,099 (GRCm39)	D1818G	probably benign	Het
Emsy	T	C	7: 98,250,013 (GRCm39)	K758R	probably damaging	Het
Fat3	A	G	9: 15,908,160 (GRCm39)	V2614A	probably damaging	Het
Hivep2	T	C	10: 14,003,972 (GRCm39)	I190T	possibly damaging	Het
Hoxb3	T	C	11: 96,235,480 (GRCm39)	S136P	probably damaging	Het
Hras	A	C	7: 140,772,768 (GRCm39)	V29G	probably damaging	Het
Hycc1	A	G	5: 24,192,877 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,681,558 (GRCm39)		probably null	Het
Insr	G	A	8: 3,205,694 (GRCm39)	T1365I	probably benign	Het
Kitl	T	A	10: 99,923,247 (GRCm39)	W187R	probably damaging	Het
Klb	T	A	5: 65,540,728 (GRCm39)	F940L	probably benign	Het
Lrp1b	C	T	2: 41,172,249 (GRCm39)	R725K	probably damaging	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Mrps35	A	G	6: 146,972,115 (GRCm39)	S253G	probably benign	Het
Mycbp2	C	T	14: 103,438,837 (GRCm39)	E2015K	probably damaging	Het
Nyap2	A	C	1: 81,169,857 (GRCm39)	I205L	probably benign	Het
Or12d13	T	C	17: 37,647,953 (GRCm39)	M57V	possibly damaging	Het
Or6k14	A	G	1: 173,927,033 (GRCm39)	K3R	probably benign	Het
Rab11fip3	C	T	17: 26,211,555 (GRCm39)		probably null	Het
Rbm47	A	G	5: 66,184,525 (GRCm39)	V26A	probably benign	Het
Ripk2	A	T	4: 16,151,989 (GRCm39)	I190N	probably damaging	Het
Spmip4	A	G	6: 50,572,776 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttc17	A	T	2: 94,133,905 (GRCm39)	N1150K	probably damaging	Het
Zfp108	G	T	7: 23,960,689 (GRCm39)	G427W	probably damaging	Het
Zfp84	A	G	7: 29,475,722 (GRCm39)	E138G	possibly damaging	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
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
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'- CTCATAACTGATGACTGATGTTTCC -3'
(R):5'- AGATGTCTTCTGTGGGGCAAC -3'

Sequencing Primer
(F):5'- ATTTCCTGCTAGATGAGGAAGC -3'
(R):5'- TTCTGTGGGGCAACATCAC -3'

Posted On

2016-10-06