Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Brat1'

489250

Institutional Source

Beutler Lab

Gene Symbol

Brat1

Ensembl Gene

ENSMUSG00000000148

Gene Name

BRCA1-associated ATM activator 1

Synonyms

Baat1

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

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

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140690766-140705134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140691716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 43 (C43S)

Ref Sequence

ENSEMBL: ENSMUSP00000098074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041588] [ENSMUST00000041783] [ENSMUST00000077890] [ENSMUST00000100505] [ENSMUST00000110806] [ENSMUST00000153440] [ENSMUST00000142081] [ENSMUST00000135028]

AlphaFold

Q8C3R1

Predicted Effect

probably benign
Transcript: ENSMUST00000041588

SMART Domains

Protein: ENSMUSP00000036016
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	3e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041783

SMART Domains

Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	128	139	N/A	INTRINSIC
coiled coil region	157	190	N/A	INTRINSIC
coiled coil region	212	266	N/A	INTRINSIC
coiled coil region	287	323	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
coiled coil region	398	491	N/A	INTRINSIC
IQ	552	574	1.36e-3	SMART
low complexity region	579	598	N/A	INTRINSIC
IQ	614	636	1.63e-1	SMART
low complexity region	734	753	N/A	INTRINSIC
low complexity region	754	766	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077890

SMART Domains

Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
coiled coil region	112	145	N/A	INTRINSIC
coiled coil region	167	221	N/A	INTRINSIC
coiled coil region	242	278	N/A	INTRINSIC
low complexity region	300	317	N/A	INTRINSIC
coiled coil region	353	446	N/A	INTRINSIC
IQ	507	529	1.36e-3	SMART
low complexity region	534	553	N/A	INTRINSIC
IQ	569	591	1.63e-1	SMART
low complexity region	628	647	N/A	INTRINSIC
low complexity region	717	736	N/A	INTRINSIC
low complexity region	737	749	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100505
AA Change: C43S

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

SMART Domains

Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: C43S

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: ENSMUST00000123683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136385

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142081

SMART Domains

Protein: ENSMUSP00000120637
Gene: ENSMUSG00000036555

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	128	139	N/A	INTRINSIC
coiled coil region	157	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135028

SMART Domains

Protein: ENSMUSP00000143397
Gene: ENSMUSG00000036555

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,099,216 (GRCm39)		probably null	Het
4930550C14Rik	G	T	9: 53,325,683 (GRCm39)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm39)	V517A	probably benign	Het
Adck5	A	T	15: 76,478,887 (GRCm39)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,072,575 (GRCm39)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,223,459 (GRCm39)	R51*	probably null	Het
Arhgap23	A	G	11: 97,391,238 (GRCm39)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,617,367 (GRCm39)	T354A	probably benign	Het
Arid1a	G	T	4: 133,412,287 (GRCm39)	Q1636K	unknown	Het
Asmt	C	T	X: 169,110,202 (GRCm39)	A237V	possibly damaging	Het
Cd36	T	C	5: 18,000,593 (GRCm39)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 17,803,030 (GRCm39)	L145F	probably benign	Het
Col24a1	C	T	3: 145,019,815 (GRCm39)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,741,475 (GRCm39)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,180,756 (GRCm39)	L140P	probably damaging	Het
Dhrs13	G	A	11: 77,927,808 (GRCm39)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,986,406 (GRCm39)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,110,145 (GRCm39)	F20C	probably damaging	Het
Enpep	T	C	3: 129,126,067 (GRCm39)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,045,791 (GRCm39)		probably null	Het
Eprs1	G	T	1: 185,139,951 (GRCm39)		probably null	Het
Etl4	T	A	2: 20,718,171 (GRCm39)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,225,670 (GRCm39)	S89*	probably null	Het
F5	G	A	1: 164,017,756 (GRCm39)	C611Y	probably damaging	Het
F5	A	T	1: 164,009,204 (GRCm39)	I325F	probably damaging	Het
Fam133b	A	T	5: 3,609,133 (GRCm39)	S116C	probably null	Het
Fam13b	A	T	18: 34,627,330 (GRCm39)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,230,138 (GRCm39)	Y58D	probably damaging	Het
Far1	G	A	7: 113,160,603 (GRCm39)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,364,579 (GRCm39)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,480,468 (GRCm39)	Q469K	unknown	Het
Frs3	A	T	17: 48,000,013 (GRCm39)		probably benign	Het
Gdpd3	A	G	7: 126,374,674 (GRCm39)	S290G	probably benign	Het
Gmip	T	A	8: 70,269,735 (GRCm39)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,754,851 (GRCm39)	I176N	probably damaging	Het
Grm3	A	G	5: 9,561,556 (GRCm39)	F765L	probably damaging	Het
Hhat	A	T	1: 192,442,065 (GRCm39)	L2Q	probably damaging	Het
Hspbap1	T	C	16: 35,637,592 (GRCm39)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,424,909 (GRCm39)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,096,527 (GRCm39)	K50*	probably null	Het
Kidins220	T	C	12: 25,106,908 (GRCm39)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,655,198 (GRCm39)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,501,129 (GRCm39)	D806V	probably benign	Het
Krt26	T	C	11: 99,228,315 (GRCm39)	E139G	probably benign	Het
Lefty1	T	C	1: 180,762,681 (GRCm39)	F3L	unknown	Het
Madd	A	C	2: 90,995,802 (GRCm39)	Y853*	probably null	Het
Map1a	T	A	2: 121,120,304 (GRCm39)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm39)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,532,477 (GRCm39)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,504,859 (GRCm39)		probably null	Het
Mpp3	C	A	11: 101,899,392 (GRCm39)	R376S	probably benign	Het
Ncoa4-ps	T	G	12: 119,224,841 (GRCm39)		noncoding transcript	Het
Nup160	T	A	2: 90,520,449 (GRCm39)	Y293*	probably null	Het
Nup58	A	T	14: 60,482,065 (GRCm39)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,237,491 (GRCm39)	L255V	probably benign	Het
Or10ab4	A	G	7: 107,655,106 (GRCm39)	I306V	probably benign	Het
Or1e30	T	A	11: 73,678,521 (GRCm39)	Y252*	probably null	Het
Or2l5	A	T	16: 19,334,281 (GRCm39)	L35Q	probably damaging	Het
Or4d11	T	C	19: 12,014,100 (GRCm39)	E2G	probably benign	Het
Padi3	A	T	4: 140,523,705 (GRCm39)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,966,616 (GRCm39)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,458,748 (GRCm39)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,794,580 (GRCm39)	H2089R	probably benign	Het
Plaat5	C	T	19: 7,596,656 (GRCm39)	P148S	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,776,160 (GRCm39)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm39)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,301,476 (GRCm39)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,118,327 (GRCm39)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,283,649 (GRCm39)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,339,770 (GRCm39)	V58I	possibly damaging	Het
Slfn8	T	A	11: 82,908,147 (GRCm39)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,047,033 (GRCm39)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,431,021 (GRCm39)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 126,807,168 (GRCm39)	T123M	probably damaging	Het
Tenm2	A	C	11: 35,899,610 (GRCm39)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,848,608 (GRCm39)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,674,661 (GRCm39)	M355L	probably benign	Het
Tns4	C	T	11: 98,966,376 (GRCm39)	S433N	probably benign	Het
Traip	G	T	9: 107,847,818 (GRCm39)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm39)	R2C	probably damaging	Het
Ttn	A	T	2: 76,774,504 (GRCm39)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm39)	D380G	probably benign	Het
Ube2t	T	A	1: 134,895,698 (GRCm39)		probably null	Het
Ugdh	A	T	5: 65,574,924 (GRCm39)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,095,841 (GRCm39)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,360 (GRCm39)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,450,878 (GRCm39)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,804,221 (GRCm39)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,891,897 (GRCm39)		probably null	Het
Vwf	A	G	6: 125,634,028 (GRCm39)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,662,911 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,405,662 (GRCm39)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,819,910 (GRCm39)	V1051A	probably benign	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	probably damaging	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
R0394:Brat1	UTSW	5	140,704,141 (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
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'- GGACTTAAGAGTTCTGGTCCAC -3'
(R):5'- CCACGTGGATGGACAATTCTC -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- CGTGGATGGACAATTCTCTAAGCC -3'

Posted On

2017-10-10