Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Babam2'

570633

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

045438-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31855394-32242083 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 32164594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 326 (Y326*)

Ref Sequence

ENSEMBL: ENSMUSP00000069133 (fasta)

Gene Model

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

AlphaFold

Q8K3W0

Predicted Effect

probably null
Transcript: ENSMUST00000063813
AA Change: Y326*

SMART Domains

Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: Y326*

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

Predicted Effect

probably null
Transcript: ENSMUST00000071531
AA Change: Y280*

SMART Domains

Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139
AA Change: Y280*

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

Predicted Effect

probably null
Transcript: ENSMUST00000114507
AA Change: Y225*

SMART Domains

Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139
AA Change: Y225*

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

Predicted Effect

probably null
Transcript: ENSMUST00000114515
AA Change: Y289*

SMART Domains

Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139
AA Change: Y289*

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

Predicted Effect

probably null
Transcript: ENSMUST00000131995
AA Change: Y151*

SMART Domains

Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139
AA Change: Y151*

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

probably null
Transcript: ENSMUST00000201352
AA Change: Y289*

SMART Domains

Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139
AA Change: Y289*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,508,028 (GRCm39)	W1124*	probably null	Het
Acap3	G	A	4: 155,990,168 (GRCm39)	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796 (GRCm39)	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,429,998 (GRCm39)	L860P	probably damaging	Het
Arap3	G	A	18: 38,106,331 (GRCm39)	T1504I	probably benign	Het
Atad5	T	C	11: 79,994,169 (GRCm39)		probably null	Het
Atp8a2	A	G	14: 60,028,653 (GRCm39)	V938A	probably benign	Het
AW551984	T	C	9: 39,504,221 (GRCm39)	M582V	probably benign	Het
Axdnd1	C	T	1: 156,210,047 (GRCm39)	V408I	possibly damaging	Het
Baiap2l1	T	C	5: 144,261,436 (GRCm39)	M20V	probably benign	Het
Bex6	A	G	16: 32,005,034 (GRCm39)		probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Cad	T	A	5: 31,215,422 (GRCm39)	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,736,260 (GRCm39)	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,491,124 (GRCm39)	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,265,745 (GRCm39)	F1396I	probably damaging	Het
Cep170	A	T	1: 176,597,423 (GRCm39)	D373E	probably benign	Het
Chrna4	A	T	2: 180,679,267 (GRCm39)	I60N	probably damaging	Het
Cntn2	T	C	1: 132,450,137 (GRCm39)	T586A	probably benign	Het
Csmd2	G	T	4: 128,451,429 (GRCm39)	V3396F		Het
Cyp3a44	T	A	5: 145,740,498 (GRCm39)	L47F	probably benign	Het
D7Ertd443e	A	T	7: 133,951,123 (GRCm39)	H183Q	probably benign	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dgat1	G	T	15: 76,387,024 (GRCm39)	C396*	probably null	Het
Dmpk	A	G	7: 18,819,997 (GRCm39)	S83G	probably damaging	Het
Dsc2	T	G	18: 20,168,392 (GRCm39)	D689A	probably benign	Het
Eppk1	A	T	15: 75,990,618 (GRCm39)	W2088R	probably benign	Het
Exph5	A	C	9: 53,287,022 (GRCm39)	I1368L	probably benign	Het
Fadd	T	C	7: 144,134,396 (GRCm39)	K163R	probably benign	Het
Fam149a	T	A	8: 45,794,034 (GRCm39)	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,125,448 (GRCm39)	M449K	probably benign	Het
Gad1	T	C	2: 70,425,094 (GRCm39)	F463L	probably benign	Het
Gad2	T	A	2: 22,513,835 (GRCm39)	F91I	probably benign	Het
Gcc2	T	C	10: 58,116,520 (GRCm39)		probably null	Het
Gjd3	A	C	11: 102,691,278 (GRCm39)	C242G	probably damaging	Het
Gkn1	T	C	6: 87,325,100 (GRCm39)	E103G	possibly damaging	Het
Gm867	T	C	10: 75,775,670 (GRCm39)	T39A	probably benign	Het
Gpr108	A	G	17: 57,543,944 (GRCm39)	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,219,289 (GRCm39)	V508G	probably damaging	Het
Grm1	A	T	10: 10,595,237 (GRCm39)	I797N	probably damaging	Het
Ice1	G	A	13: 70,754,221 (GRCm39)	Q622*	probably null	Het
Kcnb2	T	A	1: 15,780,835 (GRCm39)	V569E	probably benign	Het
Ksr2	T	G	5: 117,827,706 (GRCm39)	I495S	probably benign	Het
Litaf	A	T	16: 10,781,217 (GRCm39)	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,110 (GRCm39)	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,302,741 (GRCm39)	S2996Y	probably benign	Het
Ltf	T	C	9: 110,857,518 (GRCm39)	S436P	probably benign	Het
Map4k4	T	A	1: 40,001,387 (GRCm39)	V58D	unknown	Het
Mapkapk3	C	A	9: 107,134,269 (GRCm39)	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,335,674 (GRCm39)	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,224,737 (GRCm39)	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,817,063 (GRCm39)	M248V	probably benign	Het
Olig2	A	G	16: 91,023,577 (GRCm39)	D97G	probably benign	Het
Or4a2	C	A	2: 89,248,311 (GRCm39)	G149W	probably damaging	Het
Or4a39	T	C	2: 89,236,806 (GRCm39)	M206V	probably benign	Het
Or4p8	T	A	2: 88,727,062 (GRCm39)	N293I	probably damaging	Het
Or5b95	A	G	19: 12,658,115 (GRCm39)	I214M	possibly damaging	Het
Or5g23	T	C	2: 85,439,128 (GRCm39)	N42S	probably damaging	Het
Or6f2	A	T	7: 139,756,438 (GRCm39)	Y135F	probably damaging	Het
Pcdha11	T	A	18: 37,139,898 (GRCm39)	V509E	probably damaging	Het
Pglyrp3	G	A	3: 91,921,947 (GRCm39)	W5*	probably null	Het
Phf14	A	T	6: 11,961,637 (GRCm39)	N425Y	probably damaging	Het
Phf3	G	T	1: 30,843,407 (GRCm39)	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Pnma2	A	G	14: 67,153,870 (GRCm39)	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,008,091 (GRCm39)	T782I	probably damaging	Het
Pramel52-ps	A	T	5: 94,531,743 (GRCm39)	N209I	probably damaging	Het
Prickle2	T	G	6: 92,387,871 (GRCm39)	E566D	probably benign	Het
Pvr	A	G	7: 19,644,541 (GRCm39)	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,997,842 (GRCm39)		probably benign	Het
Rapgef4	T	A	2: 72,010,435 (GRCm39)	I331N	probably damaging	Het
Reg3g	C	T	6: 78,443,842 (GRCm39)	W122*	probably null	Het
Rigi	T	A	4: 40,239,668 (GRCm39)	Q10L	probably benign	Het
Rlbp1	A	T	7: 79,031,428 (GRCm39)	I100N	probably damaging	Het
Rnf213	T	A	11: 119,334,405 (GRCm39)	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Rtl6	G	T	15: 84,441,181 (GRCm39)	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,785,053 (GRCm39)	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,356,045 (GRCm39)	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,925,214 (GRCm39)	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,688,865 (GRCm39)	T392A	probably damaging	Het
Spaca7	T	A	8: 12,635,742 (GRCm39)	I86K	probably benign	Het
Syt10	G	T	15: 89,698,659 (GRCm39)	D228E	probably benign	Het
Tbx3	T	A	5: 119,815,625 (GRCm39)	N308K	probably benign	Het
Telo2	A	G	17: 25,321,043 (GRCm39)	V724A	probably damaging	Het
Tfip11	T	C	5: 112,481,134 (GRCm39)	V370A	probably benign	Het
Thbs3	A	G	3: 89,132,587 (GRCm39)	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,644,401 (GRCm39)	I148V	not run	Het
Trbv14	T	A	6: 41,112,429 (GRCm39)	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,962 (GRCm39)	V2973A	probably damaging	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Ubr2	G	A	17: 47,241,352 (GRCm39)	T1734I	probably benign	Het
Ush2a	G	T	1: 188,198,321 (GRCm39)	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,841,525 (GRCm39)	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,747,728 (GRCm39)	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,155,244 (GRCm39)	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,854,493 (GRCm39)	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,253,874 (GRCm39)	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,275,916 (GRCm39)	M87T	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
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
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'- GTGGGGCAACATCACATTAAAG -3'

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

Posted On

2019-09-13