Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Atrip'

161080

Institutional Source

Beutler Lab

Gene Symbol

Atrip

Ensembl Gene

ENSMUSG00000025646

Gene Name

ATR interacting protein

Synonyms

MMRRC Submission

039507-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109057933-109074124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109072659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 110 (D110V)

Ref Sequence

ENSEMBL: ENSMUSP00000125264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045011] [ENSMUST00000160217] [ENSMUST00000161521] [ENSMUST00000192801]

AlphaFold

Q8BMG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000045011
AA Change: D110V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: D110V

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	96	193	8e-3	SMART
low complexity region	326	338	N/A	INTRINSIC
low complexity region	542	548	N/A	INTRINSIC
low complexity region	555	566	N/A	INTRINSIC
low complexity region	598	609	N/A	INTRINSIC
low complexity region	761	779	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160217
AA Change: D110V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646
AA Change: D110V

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	96	193	3e-3	SMART
low complexity region	326	338	N/A	INTRINSIC
low complexity region	533	550	N/A	INTRINSIC
low complexity region	570	581	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160928

SMART Domains

Protein: ENSMUSP00000123837
Gene: ENSMUSG00000025646

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	19	116	9e-3	SMART
low complexity region	249	261	N/A	INTRINSIC
low complexity region	465	471	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
low complexity region	521	532	N/A	INTRINSIC
low complexity region	684	702	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161270

Predicted Effect

probably damaging
Transcript: ENSMUST00000161521
AA Change: D110V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: D110V

Domain	Start	End	E-Value	Type
coiled coil region	108	208	N/A	INTRINSIC
low complexity region	326	338	N/A	INTRINSIC
low complexity region	542	548	N/A	INTRINSIC
low complexity region	555	566	N/A	INTRINSIC
low complexity region	598	609	N/A	INTRINSIC
low complexity region	734	752	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194199

Meta Mutation Damage Score

0.3556

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,152,939	Y415C	probably damaging	Het
2810474O19Rik	A	T	6: 149,326,632	K392I	probably damaging	Het
A2m	A	G	6: 121,678,056	I1446M	probably benign	Het
Acaca	T	A	11: 84,295,059		probably benign	Het
Adgre4	A	T	17: 55,784,996	E85D	probably benign	Het
Akt3	A	T	1: 177,131,067	Y26N	possibly damaging	Het
Arl15	T	C	13: 113,967,783	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,098,137		probably benign	Het
Bahcc1	T	G	11: 120,282,239		probably benign	Het
Cd53	C	T	3: 106,768,959	G31S	probably damaging	Het
Cdk14	T	C	5: 4,888,927	S404G	possibly damaging	Het
Cers3	A	T	7: 66,783,404	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,504,153	L448M	probably damaging	Het
Cox15	G	T	19: 43,746,905	T141K	probably damaging	Het
Csnk2a2	C	T	8: 95,457,375		probably benign	Het
Cyp2b10	A	T	7: 25,925,388		probably benign	Het
Cyp2c55	A	G	19: 39,011,090	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,526,691	Y693C	possibly damaging	Het
Des	T	C	1: 75,363,477	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,249,863		probably benign	Het
Eif3m	T	A	2: 105,006,777	Q199L	probably damaging	Het
Emsy	G	T	7: 98,600,674	T802K	probably damaging	Het
Endov	A	G	11: 119,491,825	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,549,166	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,318,402	I363V	probably benign	Het
Gm8674	C	T	13: 49,900,517		noncoding transcript	Het
Gm9733	G	T	3: 15,332,152	T24K	unknown	Het
Il6st	T	A	13: 112,481,464	N137K	possibly damaging	Het
Inf2	A	G	12: 112,601,344	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,559	I376N	probably benign	Het
Kansl3	A	G	1: 36,354,793		probably benign	Het
Kbtbd2	A	T	6: 56,781,924	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,453,327	Y140*	probably null	Het
Macf1	T	A	4: 123,493,998	I924L	probably benign	Het
Mcoln2	A	T	3: 146,181,814	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,381,520	L621Q	probably damaging	Het
Mut	A	G	17: 40,937,468		probably benign	Het
Ncor1	T	C	11: 62,334,631	H1038R	probably damaging	Het
Neb	A	G	2: 52,271,297		probably null	Het
Ngrn	A	G	7: 80,264,772	T224A	probably benign	Het
Nin	G	A	12: 70,017,650	R2019*	probably null	Het
Nphp4	C	G	4: 152,547,018	Q792E	probably damaging	Het
Olfr1047	T	A	2: 86,228,455	N172I	probably damaging	Het
Olfr1166	C	T	2: 88,124,311	V225I	probably benign	Het
Olfr140	C	T	2: 90,051,671	V218I	possibly damaging	Het
Olfr373	C	T	8: 72,100,176	Q139*	probably null	Het
Olfr70	C	T	4: 43,696,823	V117M	probably benign	Het
Pde4dip	C	A	3: 97,724,102	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067		probably benign	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,469,536		probably benign	Het
Prim2	T	A	1: 33,630,404	E163D	probably benign	Het
Prrc2b	A	T	2: 32,194,985	D296V	probably damaging	Het
Pter	A	G	2: 12,978,621		probably benign	Het
Robo2	C	A	16: 73,961,910	V662L	probably damaging	Het
Slco1b2	A	T	6: 141,672,200	I424F	probably benign	Het
Snx29	A	T	16: 11,631,471	H260L	probably damaging	Het
Stil	A	G	4: 115,039,195	N959S	probably benign	Het
Taar8c	A	T	10: 24,101,610	D101E	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,147	M573I	probably damaging	Het
Tsr1	A	T	11: 74,899,599	D171V	probably benign	Het
Ube4b	T	C	4: 149,371,169	T348A	probably damaging	Het
Vmn1r85	A	T	7: 13,084,881	I112N	probably damaging	Het
Vps36	A	G	8: 22,218,210		probably null	Het
Wdfy3	G	A	5: 101,937,738	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,876,800	D14E	probably null	Het
Ylpm1	T	C	12: 85,030,383	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,955,075	F378L	probably benign	Het

Other mutations in Atrip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Atrip	APN	9	109069295	missense	probably damaging	1.00
IGL02176:Atrip	APN	9	109067046	missense	probably benign	0.06
IGL02227:Atrip	APN	9	109061664	missense	possibly damaging	0.86
IGL02344:Atrip	APN	9	109072624	nonsense	probably null
IGL02406:Atrip	APN	9	109065419	missense	probably damaging	0.99
IGL02457:Atrip	APN	9	109065231	missense	possibly damaging	0.95
IGL02823:Atrip	APN	9	109061178	missense	probably damaging	1.00
PIT4508001:Atrip	UTSW	9	109073989	missense	possibly damaging	0.93
R0637:Atrip	UTSW	9	109061173	missense	possibly damaging	0.58
R0709:Atrip	UTSW	9	109067103	missense	probably benign	0.00
R1944:Atrip	UTSW	9	109071867	missense	probably damaging	1.00
R1945:Atrip	UTSW	9	109071867	missense	probably damaging	1.00
R2081:Atrip	UTSW	9	109072739	critical splice acceptor site	probably null
R4588:Atrip	UTSW	9	109060279	missense	probably damaging	1.00
R5032:Atrip	UTSW	9	109065203	missense	probably benign	0.02
R5088:Atrip	UTSW	9	109059896	missense	probably damaging	0.97
R5696:Atrip	UTSW	9	109065501	missense	possibly damaging	0.59
R6104:Atrip	UTSW	9	109065564	missense	possibly damaging	0.94
R6136:Atrip	UTSW	9	109071736	missense	probably damaging	1.00
R7071:Atrip	UTSW	9	109067014	splice site	probably null
R7131:Atrip	UTSW	9	109060420	missense	probably benign
R7467:Atrip	UTSW	9	109069354	missense	probably damaging	1.00
R7734:Atrip	UTSW	9	109065506	missense	probably benign	0.09
R9025:Atrip	UTSW	9	109073838	missense	probably damaging	0.99
R9777:Atrip	UTSW	9	109073896	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATTTCAGGCATTCTTTCCCCAACCT -3'
(R):5'- TGGATACATACTGAGCCCCGCA -3'

Sequencing Primer
(F):5'- ggctggaaggatagcctaac -3'
(R):5'- attttttccagacaggttctcg -3'

Posted On

2014-03-14