Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Brat1'

31849

Institutional Source

Beutler Lab

Gene Symbol

Brat1

Ensembl Gene

ENSMUSG00000000148

Gene Name

BRCA1-associated ATM activator 1

Synonyms

Baat1

MMRRC Submission

038600-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140690766-140705134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 140704141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 798 (L798R)

Ref Sequence

ENSEMBL: ENSMUSP00000098074 (fasta)

Gene Model

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

AlphaFold

Q8C3R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041588
AA Change: L753R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: L753R

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 damaging
Transcript: ENSMUST00000100505
AA Change: L798R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: L798R

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

0.2382

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,170,465 (GRCm39)	F5I	probably benign	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Cenpe	T	C	3: 134,922,186 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Coro1a	A	G	7: 126,299,812 (GRCm39)	F337L	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
Exoc7	G	T	11: 116,191,224 (GRCm39)	Q219K	probably damaging	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,904,115 (GRCm39)		probably benign	Het
Pi4kb	G	A	3: 94,904,116 (GRCm39)		probably benign	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Scel	A	T	14: 103,799,954 (GRCm39)	E202V	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	Het

Other mutations in Brat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Brat1	APN	5	140,702,932 (GRCm39)	missense	probably damaging	1.00
IGL01327:Brat1	APN	5	140,703,963 (GRCm39)	nonsense	probably null
IGL01897:Brat1	APN	5	140,703,670 (GRCm39)	missense	probably benign	0.00
IGL01965:Brat1	APN	5	140,703,811 (GRCm39)	missense	probably benign	0.01
IGL02437:Brat1	APN	5	140,698,563 (GRCm39)	missense	possibly damaging	0.91
IGL03350:Brat1	APN	5	140,691,750 (GRCm39)	missense	probably damaging	1.00
R1256:Brat1	UTSW	5	140,695,962 (GRCm39)	missense	possibly damaging	0.87
R1426:Brat1	UTSW	5	140,703,768 (GRCm39)	missense	probably benign	0.00
R1474:Brat1	UTSW	5	140,698,382 (GRCm39)	missense	probably benign
R1848:Brat1	UTSW	5	140,704,264 (GRCm39)	missense	possibly damaging	0.94
R2205:Brat1	UTSW	5	140,690,888 (GRCm39)	intron	probably benign
R3901:Brat1	UTSW	5	140,703,751 (GRCm39)	missense	possibly damaging	0.77
R3902:Brat1	UTSW	5	140,703,751 (GRCm39)	missense	possibly damaging	0.77
R4467:Brat1	UTSW	5	140,690,826 (GRCm39)	utr 5 prime	probably benign
R4751:Brat1	UTSW	5	140,704,051 (GRCm39)	missense	probably damaging	1.00
R5795:Brat1	UTSW	5	140,698,827 (GRCm39)	missense	probably benign	0.01
R6151:Brat1	UTSW	5	140,691,716 (GRCm39)	missense	probably benign	0.00
R7162:Brat1	UTSW	5	140,696,004 (GRCm39)	missense	probably benign	0.00
R8247:Brat1	UTSW	5	140,698,893 (GRCm39)	missense	possibly damaging	0.88
R8901:Brat1	UTSW	5	140,698,608 (GRCm39)	missense	probably benign	0.17
R8934:Brat1	UTSW	5	140,696,004 (GRCm39)	missense	probably benign	0.00
R9742:Brat1	UTSW	5	140,703,912 (GRCm39)	missense	probably benign	0.00
R9797:Brat1	UTSW	5	140,704,273 (GRCm39)	missense	probably damaging	1.00
X0026:Brat1	UTSW	5	140,700,693 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGGCTGTGTTACGGGTCTTCAC -3'
(R):5'- CACGCCTTAGTAGCAGTCAGCTTC -3'

Sequencing Primer
(F):5'- ACTGTTCTCCAGGCAGTGAG -3'
(R):5'- AGTAGCAGTCAGCTTCGTTCTC -3'

Posted On

2013-04-24