Mutagenetix > Incidental Mutation

Incidental Mutation 'R2205:Brat1'

238966

Institutional Source

Beutler Lab

Gene Symbol

Brat1

Ensembl Gene

ENSMUSG00000000148

Gene Name

BRCA1-associated ATM activator 1

Synonyms

Baat1

MMRRC Submission

040207-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R2205 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140690766-140705134 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 140690888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114216 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000100505
AA Change: G8D

SMART Domains

Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: G8D

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: ENSMUST00000136385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139382

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

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca14	T	C	7: 119,846,503 (GRCm39)	S652P	probably damaging	Het
Acsl6	G	A	11: 54,214,833 (GRCm39)	G75S	probably damaging	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
Aknad1	A	G	3: 108,664,609 (GRCm39)	D406G	probably damaging	Het
Albfm1	A	G	5: 90,717,421 (GRCm39)	T201A	possibly damaging	Het
Ankrd2	C	A	19: 42,032,558 (GRCm39)	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Arhgap35	A	T	7: 16,231,950 (GRCm39)		probably null	Het
Bag6	G	A	17: 35,363,583 (GRCm39)	G751R	probably damaging	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Catsperg1	G	A	7: 28,884,671 (GRCm39)	Q922*	probably null	Het
Cfap221	T	G	1: 119,863,834 (GRCm39)	Y570S	possibly damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cpd	A	G	11: 76,693,070 (GRCm39)	Y739H	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dhrs7	A	T	12: 72,703,144 (GRCm39)	V188E	probably damaging	Het
Dpp9	A	C	17: 56,506,287 (GRCm39)	I411S	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fitm2	G	A	2: 163,314,516 (GRCm39)		probably benign	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpatch1	C	A	7: 34,991,197 (GRCm39)	D616Y	probably damaging	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Hoxb3	T	A	11: 96,236,494 (GRCm39)	S191T	probably benign	Het
Ifit1bl1	C	T	19: 34,571,741 (GRCm39)	E239K	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Irak1	G	A	X: 73,060,744 (GRCm39)	T193I	probably damaging	Het
Megf8	C	T	7: 25,041,173 (GRCm39)	T1134I	probably benign	Het
Mtrex	T	C	13: 113,035,424 (GRCm39)	I510V	probably benign	Het
Nipsnap1	C	A	11: 4,839,974 (GRCm39)	H232N	possibly damaging	Het
Nme4	A	T	17: 26,311,114 (GRCm39)	H150Q	possibly damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
P2rx7	T	A	5: 122,819,164 (GRCm39)	Y529N	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pofut1	T	A	2: 153,103,167 (GRCm39)	M267K	probably damaging	Het
Rad54l2	T	C	9: 106,594,997 (GRCm39)	D320G	probably damaging	Het
Rdm1	C	A	11: 101,525,629 (GRCm39)	A225E	probably damaging	Het
Samm50	G	A	15: 84,086,515 (GRCm39)	A245T	probably benign	Het
Scfd2	A	T	5: 74,386,028 (GRCm39)	M597K	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Ssh3	A	G	19: 4,319,101 (GRCm39)	L3P	probably damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Tbc1d31	A	G	15: 57,816,916 (GRCm39)	D717G	probably benign	Het
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tma7	C	A	9: 108,911,294 (GRCm39)		probably benign	Het
Tmc1	A	T	19: 20,918,269 (GRCm39)	L2M	probably benign	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Tns3	T	C	11: 8,481,719 (GRCm39)	Y211C	probably damaging	Het
Ttc21b	C	T	2: 66,065,467 (GRCm39)	G436S	possibly damaging	Het
Ttn	T	C	2: 76,681,907 (GRCm39)		probably benign	Het
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Usp34	A	G	11: 23,335,147 (GRCm39)	T1210A	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Wdr62	T	A	7: 29,957,574 (GRCm39)		probably null	Het
Ywhah	A	G	5: 33,184,484 (GRCm39)	N229S	probably damaging	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfyve27	C	A	19: 42,171,885 (GRCm39)	A139D	probably damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	possibly damaging	Het
Zswim4	G	T	8: 84,952,498 (GRCm39)	T488N	possibly 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
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'- GCGTGAAGCGAACTCTGAGATG -3'
(R):5'- AGAGGCTGCAAGTGACAACC -3'

Sequencing Primer
(F):5'- TCTGAGATGGGGCAGGACC -3'
(R):5'- CGGCCTCCAACTAAGTGTC -3'

Posted On

2014-10-02