Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03350:Brat1'

419681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brat1

Ensembl Gene

ENSMUSG00000000148

Gene Name

BRCA1-associated ATM activator 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

140705011-140719379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140705995 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 9 (L9P)

Ref Sequence

ENSEMBL: ENSMUSP00000114216 (fasta)

Gene Model

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

AlphaFold

Q8C3R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041588
AA Change: L9P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: L9P

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 damaging
Transcript: ENSMUST00000100505
AA Change: L54P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: L54P

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 damaging
Transcript: ENSMUST00000110806
AA Change: L9P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106429
Gene: ENSMUSG00000000148
AA Change: L9P

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: ENSMUST00000131905

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

noncoding transcript
Transcript: ENSMUST00000136385

Predicted Effect

probably damaging
Transcript: ENSMUST00000153440
AA Change: L9P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114216
Gene: ENSMUSG00000000148
AA Change: L9P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149674

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	C	A	6: 129,331,023	V28L	probably benign	Het
Adam26a	A	T	8: 43,569,552	Y300*	probably null	Het
Adgre1	T	A	17: 57,401,908	V33E	probably benign	Het
AI987944	A	G	7: 41,393,237		probably benign	Het
Atp4a	T	C	7: 30,720,867	L813P	probably damaging	Het
Blmh	A	G	11: 76,971,948	N396D	probably damaging	Het
Ccdc171	T	C	4: 83,681,378	I810T	possibly damaging	Het
Cyp2a22	T	C	7: 26,934,854	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,520,944	T280I	probably benign	Het
Fa2h	C	T	8: 111,349,296	V232I	probably benign	Het
Fbxw24	T	C	9: 109,607,013	D317G	probably damaging	Het
Flt4	C	A	11: 49,634,793	S722*	probably null	Het
Fryl	T	C	5: 73,133,306	Q85R	probably damaging	Het
Gm3239	A	G	14: 4,667,115	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,757,829	S456R	probably damaging	Het
Htr1b	T	C	9: 81,632,122	Y144C	probably damaging	Het
Hydin	A	G	8: 110,312,224	H198R	possibly damaging	Het
Krt78	A	T	15: 101,946,517	M953K	probably benign	Het
Lgr5	G	T	10: 115,471,988	T255K	probably damaging	Het
Lrp2	T	A	2: 69,438,453	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,212,148	D342G	probably damaging	Het
Miip	A	G	4: 147,862,522	V258A	probably benign	Het
Muc6	T	C	7: 141,652,059	H52R	probably damaging	Het
Nfs1	T	C	2: 156,127,740	E329G	probably benign	Het
Npsr1	T	C	9: 24,098,309	V37A	probably benign	Het
Olfr1107	A	C	2: 87,071,560	D191E	probably damaging	Het
Olfr23	A	T	11: 73,940,838	L197F	probably damaging	Het
Olfr356	T	C	2: 36,937,583	Y155H	probably damaging	Het
Pex16	T	A	2: 92,377,497	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,455,173	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,549,301	D103V	probably damaging	Het
Pnpla1	A	G	17: 28,876,992	D129G	probably damaging	Het
Rad23a	T	C	8: 84,837,479	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,600,808	P209S	probably benign	Het
Ribc2	T	A	15: 85,135,502	W162R	probably damaging	Het
Rnf4	A	G	5: 34,346,860	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,614,517	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,237,409	Y240F	probably benign	Het
Sorbs2	C	T	8: 45,805,807	P1047L	probably damaging	Het
Ttn	T	C	2: 76,749,822	I23576V	probably damaging	Het
Usp24	T	G	4: 106,371,079	Y780*	probably null	Het
Wee2	T	C	6: 40,449,731	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188	T126A	probably benign	Het
Zpld1	A	G	16: 55,241,329		probably benign	Het
Zufsp	G	A	10: 33,928,111	R456C	probably benign	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
R0394:Brat1	UTSW	5	140718386	missense	probably damaging	1.00
R1256:Brat1	UTSW	5	140710207	missense	possibly damaging	0.87
R1426:Brat1	UTSW	5	140718013	missense	probably benign	0.00
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
R8901:Brat1	UTSW	5	140712853	missense	probably benign	0.17
R8934:Brat1	UTSW	5	140710249	missense	probably benign	0.00
R9742:Brat1	UTSW	5	140718157	missense	probably benign	0.00
R9797:Brat1	UTSW	5	140718518	missense	probably damaging	1.00
X0026:Brat1	UTSW	5	140714938	missense	probably benign	0.00

Posted On

2016-08-02