Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02823:Atrip'

361086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atrip

Ensembl Gene

ENSMUSG00000025646

Gene Name

ATR interacting protein

Synonyms

6620401K05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02823

Quality Score

Status

Chromosome

Chromosomal Location

108888815-108903192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108890246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 631 (Y631H)

Ref Sequence

ENSEMBL: ENSMUSP00000125615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026737] [ENSMUST00000045011] [ENSMUST00000061973] [ENSMUST00000112053] [ENSMUST00000112059] [ENSMUST00000128062] [ENSMUST00000154184] [ENSMUST00000159614] [ENSMUST00000161521] [ENSMUST00000160217] [ENSMUST00000196954] [ENSMUST00000198376] [ENSMUST00000197483] [ENSMUST00000197689] [ENSMUST00000198295] [ENSMUST00000197099] [ENSMUST00000200629] [ENSMUST00000198708] [ENSMUST00000200515]

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

probably damaging
Transcript: ENSMUST00000045011
AA Change: Y631H

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

SMART Domains

Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: Y631H

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

probably damaging
Transcript: ENSMUST00000159614
AA Change: Y142H

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

SMART Domains

Protein: ENSMUSP00000124854
Gene: ENSMUSG00000025646
AA Change: Y142H

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

probably damaging
Transcript: ENSMUST00000161521
AA Change: Y631H

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

SMART Domains

Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: Y631H

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

noncoding transcript
Transcript: ENSMUST00000197194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161163

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

probably benign
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

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: ENSMUST00000198376

SMART Domains

Protein: ENSMUSP00000143374
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	83	5e-29	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

probably benign
Transcript: ENSMUST00000197689

SMART Domains

Protein: ENSMUSP00000142874
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	63	4.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198295

SMART Domains

Protein: ENSMUSP00000143721
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	70	1.3e-17	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

noncoding transcript
Transcript: ENSMUST00000200366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199288

Predicted Effect

probably benign
Transcript: ENSMUST00000200629

SMART Domains

Protein: ENSMUSP00000142404
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	72	1.9e-23	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

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,410,074 (GRCm39)	S194P	probably damaging	Het
Abca7	T	A	10: 79,844,656 (GRCm39)	D1488E	probably damaging	Het
Abhd18	A	G	3: 40,887,953 (GRCm39)		probably benign	Het
Atp6ap1l	A	G	13: 91,047,644 (GRCm39)	V56A	probably benign	Het
C9orf72	A	T	4: 35,213,031 (GRCm39)	C215S	probably damaging	Het
Dst	A	T	1: 34,231,164 (GRCm39)	H3097L	possibly damaging	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
Eif2a	G	T	3: 58,456,092 (GRCm39)	A364S	probably benign	Het
Eps8l2	A	T	7: 140,921,988 (GRCm39)	D22V	probably damaging	Het
Fndc7	A	G	3: 108,776,487 (GRCm39)	F432S	probably damaging	Het
Gemin5	T	C	11: 58,058,531 (GRCm39)		probably benign	Het
Grxcr2	T	C	18: 42,125,046 (GRCm39)	K121E	probably damaging	Het
Gucy1a2	T	C	9: 3,894,656 (GRCm39)	I713T	possibly damaging	Het
Hs3st1	A	G	5: 39,772,100 (GRCm39)	L181P	probably damaging	Het
Ksr1	C	A	11: 78,912,229 (GRCm39)	V627L	probably benign	Het
Lama2	T	C	10: 26,877,141 (GRCm39)	N2682D	probably damaging	Het
Lratd2	T	C	15: 60,694,972 (GRCm39)	D258G	probably damaging	Het
Map3k19	G	T	1: 127,750,001 (GRCm39)	H1117N	probably benign	Het
Mdc1	C	T	17: 36,163,815 (GRCm39)	A1121V	probably damaging	Het
Nlrp1a	C	T	11: 70,983,249 (GRCm39)	S1239N	probably damaging	Het
Or2w3	T	C	11: 58,556,793 (GRCm39)	M136T	possibly damaging	Het
Prkra	G	T	2: 76,460,768 (GRCm39)	A310E	probably damaging	Het
Prl2c1	T	C	13: 28,040,416 (GRCm39)		probably benign	Het
Prl7a2	T	C	13: 27,846,734 (GRCm39)	Y93C	possibly damaging	Het
Prob1	A	T	18: 35,785,800 (GRCm39)	V818E	possibly damaging	Het
Rbbp8	A	G	18: 11,865,270 (GRCm39)	S720G	possibly damaging	Het
Rexo4	T	C	2: 26,852,489 (GRCm39)	T149A	probably benign	Het
Slc39a2	T	A	14: 52,132,869 (GRCm39)	Y271N	probably damaging	Het
Sprr2d	T	A	3: 92,247,734 (GRCm39)	C58*	probably null	Het
Srebf2	G	A	15: 82,083,975 (GRCm39)	G965D	possibly damaging	Het
Tcof1	T	C	18: 60,949,120 (GRCm39)	E1265G	probably benign	Het
Terf2	T	C	8: 107,799,257 (GRCm39)	N389S	possibly damaging	Het
Vsig10l	T	C	7: 43,115,888 (GRCm39)	S410P	probably damaging	Het
Vwa3b	A	T	1: 37,225,985 (GRCm39)		probably benign	Het

Other mutations in Atrip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Atrip	APN	9	108,898,363 (GRCm39)	missense	probably damaging	1.00
IGL02176:Atrip	APN	9	108,896,114 (GRCm39)	missense	probably benign	0.06
IGL02227:Atrip	APN	9	108,890,732 (GRCm39)	missense	possibly damaging	0.86
IGL02344:Atrip	APN	9	108,901,692 (GRCm39)	nonsense	probably null
IGL02406:Atrip	APN	9	108,894,487 (GRCm39)	missense	probably damaging	0.99
IGL02457:Atrip	APN	9	108,894,299 (GRCm39)	missense	possibly damaging	0.95
PIT4508001:Atrip	UTSW	9	108,903,057 (GRCm39)	missense	possibly damaging	0.93
R0637:Atrip	UTSW	9	108,890,241 (GRCm39)	missense	possibly damaging	0.58
R0709:Atrip	UTSW	9	108,896,171 (GRCm39)	missense	probably benign	0.00
R1452:Atrip	UTSW	9	108,901,727 (GRCm39)	missense	probably damaging	1.00
R1944:Atrip	UTSW	9	108,900,935 (GRCm39)	missense	probably damaging	1.00
R1945:Atrip	UTSW	9	108,900,935 (GRCm39)	missense	probably damaging	1.00
R2081:Atrip	UTSW	9	108,901,807 (GRCm39)	critical splice acceptor site	probably null
R4588:Atrip	UTSW	9	108,889,347 (GRCm39)	missense	probably damaging	1.00
R5032:Atrip	UTSW	9	108,894,271 (GRCm39)	missense	probably benign	0.02
R5088:Atrip	UTSW	9	108,888,964 (GRCm39)	missense	probably damaging	0.97
R5696:Atrip	UTSW	9	108,894,569 (GRCm39)	missense	possibly damaging	0.59
R6104:Atrip	UTSW	9	108,894,632 (GRCm39)	missense	possibly damaging	0.94
R6136:Atrip	UTSW	9	108,900,804 (GRCm39)	missense	probably damaging	1.00
R7071:Atrip	UTSW	9	108,896,082 (GRCm39)	splice site	probably null
R7131:Atrip	UTSW	9	108,889,488 (GRCm39)	missense	probably benign
R7467:Atrip	UTSW	9	108,898,422 (GRCm39)	missense	probably damaging	1.00
R7734:Atrip	UTSW	9	108,894,574 (GRCm39)	missense	probably benign	0.09
R9025:Atrip	UTSW	9	108,902,906 (GRCm39)	missense	probably damaging	0.99
R9777:Atrip	UTSW	9	108,902,964 (GRCm39)	missense	probably benign

Posted On

2015-12-18