Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Atrip'

285615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atrip

Ensembl Gene

ENSMUSG00000025646

Gene Name

ATR interacting protein

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

109057933-109074124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109061664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 91 (S91P)

Ref Sequence

ENSEMBL: ENSMUSP00000124854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026737] [ENSMUST00000045011] [ENSMUST00000061973] [ENSMUST00000112053] [ENSMUST00000112059] [ENSMUST00000128062] [ENSMUST00000154184] [ENSMUST00000159614] [ENSMUST00000160217] [ENSMUST00000161521] [ENSMUST00000196954] [ENSMUST00000197099] [ENSMUST00000197483] [ENSMUST00000200515] [ENSMUST00000198708]

AlphaFold

Q8BMG1

Predicted Effect

probably benign
Transcript: ENSMUST00000026737

SMART Domains

Protein: ENSMUSP00000026737
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:Shisa	24	211	1.3e-59	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045011
AA Change: S579P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: S579P

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 benign
Transcript: ENSMUST00000061973

SMART Domains

Protein: ENSMUSP00000050971
Gene: ENSMUSG00000049734

Domain	Start	End	E-Value	Type
EXOIII	13	217	2.45e-13	SMART
low complexity region	248	283	N/A	INTRINSIC
transmembrane domain	287	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112053

SMART Domains

Protein: ENSMUSP00000107684
Gene: ENSMUSG00000049734

Domain	Start	End	E-Value	Type
EXOIII	13	217	2.45e-13	SMART
low complexity region	248	283	N/A	INTRINSIC
transmembrane domain	287	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112059

SMART Domains

Protein: ENSMUSP00000107690
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:Shisa	26	198	1.1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128062

SMART Domains

Protein: ENSMUSP00000118499
Gene: ENSMUSG00000025646

Domain	Start	End	E-Value	Type
PDB:3MXJ\|A	1	150	4e-97	PDB
SCOP:d1fxxa_	12	146	7e-12	SMART
Blast:EXOIII	13	150	1e-85	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154184

SMART Domains

Protein: ENSMUSP00000128901
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	108	1.6e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159614
AA Change: S91P

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124854
Gene: ENSMUSG00000025646
AA Change: S91P

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	54	60	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
low complexity region	110	121	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000160217

SMART Domains

Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646

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: ENSMUST00000161163

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161521
AA Change: S579P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: S579P

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: ENSMUST00000196954

SMART Domains

Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	95	1.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197099

SMART Domains

Protein: ENSMUSP00000143648
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	129	9.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197483

SMART Domains

Protein: ENSMUSP00000143613
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	95	1.9e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198639

Predicted Effect

probably benign
Transcript: ENSMUST00000199868

Predicted Effect

probably benign
Transcript: ENSMUST00000200515

SMART Domains

Protein: ENSMUSP00000142835
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	11	147	4.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198708

SMART Domains

Protein: ENSMUSP00000142978
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	109	7.8e-38	PFAM

Coding Region Coverage

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,982,950	N152D	possibly damaging	Het
Acsl1	A	G	8: 46,534,365	E662G	probably benign	Het
Acss3	A	G	10: 107,045,335	S262P	probably benign	Het
Agap1	T	C	1: 89,663,775	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,473,404	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,926,152	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,562,190	H485N	probably benign	Het
Bcorl1	T	C	X: 48,369,360	V590A	probably benign	Het
Brf1	C	A	12: 112,961,774	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,148,922	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,256,452	V163A	probably damaging	Het
Cct6b	T	C	11: 82,741,391	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 180,094,424	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,629,586	V434I	probably benign	Het
Cltc	C	T	11: 86,697,340	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,051,263	F473L	probably benign	Het
Dock3	T	C	9: 107,062,055	K165E	probably damaging	Het
Duox2	A	T	2: 122,285,153		probably benign	Het
Epha7	A	G	4: 28,821,587	S251G	possibly damaging	Het
Epn1	T	A	7: 5,095,036	V282E	probably benign	Het
Fat1	T	C	8: 45,023,659	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,256,367	I611T	possibly damaging	Het
Fgd6	G	T	10: 94,134,084	M1198I	probably damaging	Het
Frmpd4	T	A	X: 167,492,935	I379F	probably damaging	Het
Gm6614	A	T	6: 141,993,675	C197*	probably null	Het
Grk4	T	A	5: 34,694,782	D123E	probably benign	Het
Hc	T	G	2: 35,009,911		probably benign	Het
Hephl1	T	C	9: 15,069,793	Y781C	probably damaging	Het
Hfe	T	C	13: 23,706,943	E71G	probably benign	Het
Hk1	A	G	10: 62,281,140		probably benign	Het
Ifnk	G	A	4: 35,152,642		probably benign	Het
Kcnv1	C	A	15: 45,114,274	G123C	probably damaging	Het
Kdelc2	T	C	9: 53,388,479	L96S	probably damaging	Het
Klhl38	A	T	15: 58,323,237	I32N	possibly damaging	Het
Lpl	T	C	8: 68,895,800	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,953,857	S196C	probably damaging	Het
Mta1	T	C	12: 113,120,908	L91P	possibly damaging	Het
Nelfe	C	A	17: 34,854,354	D288E	probably benign	Het
Olfr491	T	A	7: 108,317,201	C102*	probably null	Het
Otof	T	C	5: 30,370,784	E1905G	probably damaging	Het
Pck2	T	C	14: 55,543,866	I148T	probably benign	Het
Plcl2	G	T	17: 50,606,397	V145F	probably damaging	Het
Plec	A	G	15: 76,172,274	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,752,089	E641G	probably damaging	Het
Ppp1r12a	C	T	10: 108,269,324	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,518,245	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,660,175		probably benign	Het
Psmb1	A	T	17: 15,490,284	M1K	probably null	Het
Pwwp2a	T	C	11: 43,705,621	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,672,753	R516W	probably damaging	Het
Rnf103	A	G	6: 71,510,188	D601G	probably benign	Het
Senp3	A	G	11: 69,674,530	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,315,683	T121P	probably damaging	Het
Srrt	G	A	5: 137,296,274	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,933,454		probably null	Het
Tas2r129	G	A	6: 132,951,394	W98*	probably null	Het
Thoc5	A	C	11: 4,926,217	M609L	probably benign	Het
Tnip1	G	A	11: 54,936,471	T155M	possibly damaging	Het
Ttn	A	G	2: 76,788,328	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,459,781	E61G	probably benign	Het
Usp32	T	C	11: 84,986,481	K151E	probably damaging	Het
Vmn2r121	T	C	X: 124,132,681	M260V	probably benign	Het
Vwa7	G	T	17: 35,020,084	R345L	probably damaging	Het
Zfp366	G	T	13: 99,234,188	R472L	possibly damaging	Het
Zfp811	A	T	17: 32,798,642	Y141*	probably null	Het
Zpbp	C	T	11: 11,415,248	E200K	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
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
R1452:Atrip	UTSW	9	109072659	missense	probably damaging	1.00
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

Posted On

2015-04-16