Mutagenetix > Incidental Mutation

Incidental Mutation 'R5795:Brat1'

447168

Institutional Source

Beutler Lab

Gene Symbol

Brat1

Ensembl Gene

ENSMUSG00000000148

Gene Name

BRCA1-associated ATM activator 1

Synonyms

Baat1

MMRRC Submission

043386-MU

Accession Numbers

Essential gene?

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

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140690766-140705134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140698827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 275 (A275S)

Ref Sequence

ENSEMBL: ENSMUSP00000106429 (fasta)

Gene Model

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

AlphaFold

Q8C3R1

Predicted Effect

probably benign
Transcript: ENSMUST00000041588
AA Change: A275S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: A275S

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: A320S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: A320S

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
AA Change: A275S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106429
Gene: ENSMUSG00000000148
AA Change: A275S

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
AA Change: A275S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114216
Gene: ENSMUSG00000000148
AA Change: A275S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	G	9: 104,186,688 (GRCm39)	V261A	probably benign	Het
Adipor1	C	A	1: 134,352,641 (GRCm39)	N137K	probably damaging	Het
Ahnak	A	T	19: 8,989,746 (GRCm39)	K3677*	probably null	Het
Ankrd24	C	A	10: 81,480,937 (GRCm39)		probably benign	Het
Appl1	G	T	14: 26,664,773 (GRCm39)	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,015,761 (GRCm39)	F249L	possibly damaging	Het
C5ar1	T	C	7: 15,982,319 (GRCm39)	K234E	possibly damaging	Het
Cblif	A	G	19: 11,737,740 (GRCm39)	T384A	probably damaging	Het
Ccs	A	G	19: 4,883,367 (GRCm39)		probably null	Het
Chmp5	T	G	4: 40,950,562 (GRCm39)		probably null	Het
Chrna3	T	A	9: 54,922,552 (GRCm39)	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Csf3	G	T	11: 98,592,853 (GRCm39)	C72F	probably damaging	Het
Dbndd1	A	G	8: 124,236,619 (GRCm39)	I83T	probably damaging	Het
Ercc6	A	G	14: 32,248,309 (GRCm39)	K287E	probably damaging	Het
F5	C	T	1: 163,979,578 (GRCm39)	T16I	probably benign	Het
Hephl1	C	T	9: 14,981,056 (GRCm39)	G792E	probably damaging	Het
Hmmr	T	A	11: 40,612,733 (GRCm39)	D158V	probably damaging	Het
Hsd11b1	A	G	1: 192,922,940 (GRCm39)	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,412,978 (GRCm39)	S167P	probably benign	Het
Irf7	G	A	7: 140,845,029 (GRCm39)	P118L	probably damaging	Het
Lama1	A	G	17: 68,103,722 (GRCm39)	N1981S	probably benign	Het
Lrp4	A	G	2: 91,304,816 (GRCm39)	D224G	probably benign	Het
Mink1	T	C	11: 70,498,616 (GRCm39)	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,491,557 (GRCm39)	V412M	probably damaging	Het
Muc5b	G	A	7: 141,425,478 (GRCm39)	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,890,415 (GRCm39)	E34K	probably damaging	Het
Oaf	T	A	9: 43,135,241 (GRCm39)	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,252,824 (GRCm39)	G278D	probably damaging	Het
Or2h1	A	G	17: 37,404,661 (GRCm39)	L35P	probably damaging	Het
Or5b12	A	G	19: 12,897,188 (GRCm39)	F162L	possibly damaging	Het
Paf1	T	G	7: 28,096,043 (GRCm39)	M250R	probably damaging	Het
Pcdh8	T	C	14: 80,008,420 (GRCm39)	T48A	possibly damaging	Het
Pdzph1	A	G	17: 59,192,862 (GRCm39)	V1096A	possibly damaging	Het
Polr3b	T	C	10: 84,512,875 (GRCm39)	S586P	probably damaging	Het
Polr3b	A	T	10: 84,464,116 (GRCm39)	E25D	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,348,475 (GRCm39)	M274T	possibly damaging	Het
Slc31a2	T	C	4: 62,215,289 (GRCm39)	V112A	probably damaging	Het
Spire1	A	T	18: 67,628,265 (GRCm39)	S412T	probably benign	Het
Tanc1	A	G	2: 59,637,926 (GRCm39)	T876A	possibly damaging	Het
Tango6	T	A	8: 107,444,709 (GRCm39)	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,886,621 (GRCm39)	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,091,158 (GRCm39)	M125K	possibly damaging	Het
Traf5	T	C	1: 191,731,807 (GRCm39)	S345G	probably benign	Het
Ush2a	A	T	1: 188,175,594 (GRCm39)	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,250,372 (GRCm39)	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,250,544 (GRCm39)	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,448,998 (GRCm39)	C60S	probably benign	Het
Zfp316	A	T	5: 143,248,594 (GRCm39)	D217E	unknown	Het
Zfp456	A	T	13: 67,515,039 (GRCm39)	D222E	probably benign	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
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'- CATGGACCTTCTTCTTAGTGTGGC -3'
(R):5'- TGGCCCATTCTCACATTTGG -3'

Sequencing Primer
(F):5'- CTTAGTGTGGCCAGGTCAG -3'
(R):5'- TGGCTCCCGGTTTCCAAAG -3'

Posted On

2016-12-15