Mutagenetix > Incidental Mutations

Incidental Mutation 'R1426:Brat1'

162244

Institutional Source

Beutler Lab

Gene Symbol

Brat1

Ensembl Gene

ENSMUSG00000000148

Gene Name

BRCA1-associated ATM activator 1

Synonyms

MMRRC Submission

039482-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R1426 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

140705011-140719379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140718013 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 674 (V674I)

Ref Sequence

ENSEMBL: ENSMUSP00000098074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041588] [ENSMUST00000100505] [ENSMUST00000110806] [ENSMUST00000153440]

Predicted Effect

probably benign
Transcript: ENSMUST00000041588
AA Change: V629I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: V629I

Domain	Start	End	E-Value	Type
low complexity region	90	105	N/A	INTRINSIC
low complexity region	402	413	N/A	INTRINSIC
low complexity region	443	454	N/A	INTRINSIC
low complexity region	486	498	N/A	INTRINSIC
Pfam:HEAT	501	531	3e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100505
AA Change: V674I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: V674I

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
low complexity region	135	150	N/A	INTRINSIC
low complexity region	447	458	N/A	INTRINSIC
low complexity region	488	499	N/A	INTRINSIC
low complexity region	531	543	N/A	INTRINSIC
Pfam:HEAT	546	576	4.4e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110806

SMART Domains

Protein: ENSMUSP00000106429
Gene: ENSMUSG00000000148

Domain	Start	End	E-Value	Type
low complexity region	90	105	N/A	INTRINSIC
low complexity region	402	413	N/A	INTRINSIC
low complexity region	443	454	N/A	INTRINSIC
low complexity region	486	498	N/A	INTRINSIC
Pfam:HEAT	501	531	4.2e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131905

Predicted Effect

probably benign
Transcript: ENSMUST00000153440

SMART Domains

Protein: ENSMUSP00000114216
Gene: ENSMUSG00000000148

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	2	172	2e-3	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,324,435	V214E	probably damaging	Het
Adh1	A	G	3: 138,286,795	D224G	probably damaging	Het
Arhgap28	C	A	17: 67,857,464	Q554H	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,114,007		probably benign	Het
Ccdc162	T	C	10: 41,553,182	D438G	possibly damaging	Het
Cyp4x1	T	A	4: 115,112,791		probably benign	Het
Dip2a	T	C	10: 76,279,820		probably benign	Het
Eif2s1	A	G	12: 78,881,168	D206G	probably benign	Het
Elovl7	T	A	13: 108,282,494	I220N	possibly damaging	Het
Gsto1	A	G	19: 47,857,942	E76G	probably damaging	Het
Hspa14	A	T	2: 3,508,821	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,676,317	C260S	possibly damaging	Het
Lama3	G	T	18: 12,481,098		probably null	Het
Lrrc34	T	A	3: 30,643,579		probably benign	Het
Lrrc45	A	T	11: 120,720,013	Q525L	probably benign	Het
Lss	T	C	10: 76,536,303	I164T	probably damaging	Het
Myh11	T	A	16: 14,205,931	K1527*	probably null	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Ncoa1	T	A	12: 4,270,737		probably benign	Het
Olfr262	G	T	19: 12,241,182	Q160K	possibly damaging	Het
Olfr768	A	T	10: 129,093,690	C95S	probably damaging	Het
Pafah1b3	T	C	7: 25,297,135	E41G	possibly damaging	Het
Pnmal1	C	T	7: 16,960,984	P255S	possibly damaging	Het
Prkar2b	A	T	12: 31,962,988		probably benign	Het
Rbck1	A	T	2: 152,327,241		probably benign	Het
Rcor2	A	G	19: 7,271,030	S137G	possibly damaging	Het
Slc25a48	T	A	13: 56,448,991		probably benign	Het
Slc7a4	A	G	16: 17,573,944		probably null	Het
Tert	T	C	13: 73,642,353		probably benign	Het
Traf7	A	T	17: 24,511,681	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,245,066	F284L	probably damaging	Het
Xpc	A	G	6: 91,493,238	M699T	probably damaging	Het
Zbtb5	T	C	4: 44,993,968	H472R	possibly damaging	Het
Zfp786	A	G	6: 47,825,079	V88A	probably benign	Het
Zkscan7	T	C	9: 122,895,163	I399T	probably benign	Het
Zyg11b	G	A	4: 108,250,812	R466C	probably damaging	Het

Other mutations in Brat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Brat1	APN	5	140717177	missense	probably damaging	1.00
IGL01327:Brat1	APN	5	140718208	nonsense	probably null
IGL01897:Brat1	APN	5	140717915	missense	probably benign	0.00
IGL01965:Brat1	APN	5	140718056	missense	probably benign	0.01
IGL02437:Brat1	APN	5	140712808	missense	possibly damaging	0.91
IGL03350:Brat1	APN	5	140705995	missense	probably damaging	1.00
R0394:Brat1	UTSW	5	140718386	missense	probably damaging	1.00
R1256:Brat1	UTSW	5	140710207	missense	possibly damaging	0.87
R1474:Brat1	UTSW	5	140712627	missense	probably benign
R1848:Brat1	UTSW	5	140718509	missense	possibly damaging	0.94
R2205:Brat1	UTSW	5	140705133	intron	probably benign
R3901:Brat1	UTSW	5	140717996	missense	possibly damaging	0.77
R3902:Brat1	UTSW	5	140717996	missense	possibly damaging	0.77
R4467:Brat1	UTSW	5	140705071	utr 5 prime	probably benign
R4751:Brat1	UTSW	5	140718296	missense	probably damaging	1.00
R5795:Brat1	UTSW	5	140713072	missense	probably benign	0.01
R6151:Brat1	UTSW	5	140705961	missense	probably benign	0.00
R7162:Brat1	UTSW	5	140710249	missense	probably benign	0.00
R8247:Brat1	UTSW	5	140713138	missense	possibly damaging	0.88
X0026:Brat1	UTSW	5	140714938	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCCTAGATGCTCTATCACGGTCAC -3'
(R):5'- CGGCAGAGAGTCTGCAAGAATTCC -3'

Sequencing Primer
(F):5'- TCTATCACGGTCACTCAGAGG -3'
(R):5'- AGTCTGCAAGAATTCCGGGTG -3'

Posted On

2014-03-14