Mutagenetix > Incidental Mutation

Incidental Mutation 'R4588:Atrip'

342623

Institutional Source

Beutler Lab

Gene Symbol

Atrip

Ensembl Gene

ENSMUSG00000025646

Gene Name

ATR interacting protein

Synonyms

6620401K05Rik

MMRRC Submission

042007-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4588 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

108888815-108903192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108889347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 20 (D20E)

Ref Sequence

ENSEMBL: ENSMUSP00000118499 (fasta)

Gene Model

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

probably damaging
Transcript: ENSMUST00000045011
AA Change: D758E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: D758E

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 damaging
Transcript: ENSMUST00000128062
AA Change: D20E

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

SMART Domains

Protein: ENSMUSP00000118499
Gene: ENSMUSG00000025646
AA Change: D20E

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

noncoding transcript
Transcript: ENSMUST00000161163

Predicted Effect

probably damaging
Transcript: ENSMUST00000161521
AA Change: D731E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: D731E

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: 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: ENSMUST00000197194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198639

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: 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: 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: ENSMUST00000159614

SMART Domains

Protein: ENSMUSP00000124854
Gene: ENSMUSG00000025646

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 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: 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: 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: ENSMUST00000196954

SMART Domains

Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200366

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: ENSMUST00000199868

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

Meta Mutation Damage Score

0.2030

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (51/52)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,833,701 (GRCm39)		probably null	Het
Abcb4	A	T	5: 8,997,328 (GRCm39)	I936F	probably benign	Het
Adnp2	G	T	18: 80,171,863 (GRCm39)	L849I	probably benign	Het
Atf7ip	T	C	6: 136,576,692 (GRCm39)	S1032P	probably benign	Het
Atr	A	C	9: 95,747,720 (GRCm39)	D334A	probably benign	Het
Atxn7	T	A	14: 14,096,268 (GRCm38)	C43*	probably null	Het
Cfap65	C	A	1: 74,943,215 (GRCm39)	Q1603H	possibly damaging	Het
Cpne5	T	C	17: 29,383,687 (GRCm39)	I327V	probably benign	Het
Ctsa	T	C	2: 164,676,070 (GRCm39)	S41P	possibly damaging	Het
Cyp4x1	A	T	4: 114,965,994 (GRCm39)	L444Q	probably damaging	Het
Dchs1	C	A	7: 105,405,248 (GRCm39)	M2431I	probably benign	Het
Ddi1	T	A	9: 6,266,003 (GRCm39)	H122L	probably benign	Het
Defa21	C	T	8: 21,515,664 (GRCm39)	P21S	probably damaging	Het
Ect2	A	G	3: 27,201,149 (GRCm39)	V77A	probably damaging	Het
Ermap	C	A	4: 119,045,445 (GRCm39)		probably benign	Het
Fancm	G	A	12: 65,165,215 (GRCm39)		probably null	Het
Gcnt3	T	A	9: 69,941,512 (GRCm39)	D352V	probably damaging	Het
Gys2	A	G	6: 142,395,181 (GRCm39)	M428T	possibly damaging	Het
Igtp	T	A	11: 58,097,508 (GRCm39)	N226K	probably damaging	Het
Itpr2	T	A	6: 146,142,694 (GRCm39)	H1675L	probably benign	Het
Lipo4	G	A	19: 33,476,647 (GRCm39)	P367L	possibly damaging	Het
Lzts3	T	C	2: 130,476,686 (GRCm39)	*587W	probably null	Het
Mast3	T	A	8: 71,233,251 (GRCm39)	K300*	probably null	Het
Mepce	G	A	5: 137,783,534 (GRCm39)	T264I	possibly damaging	Het
Mif4gd	A	T	11: 115,500,372 (GRCm39)	I62N	probably damaging	Het
Or14a260	C	T	7: 85,984,852 (GRCm39)	V251I	probably benign	Het
Or7e175	T	A	9: 20,049,383 (GRCm39)	*324K	probably null	Het
Palm3	A	G	8: 84,756,015 (GRCm39)	K509R	probably benign	Het
Pde11a	T	C	2: 75,859,647 (GRCm39)	T821A	probably damaging	Het
Pik3r5	A	G	11: 68,384,087 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,271,092 (GRCm39)	T3154A	probably benign	Het
Ptprs	A	G	17: 56,732,534 (GRCm39)	Y438H	probably damaging	Het
Rdh8	T	A	9: 20,734,025 (GRCm39)	D70E	probably benign	Het
Scn2a	A	T	2: 65,544,111 (GRCm39)	I831L	possibly damaging	Het
Selenoo	A	G	15: 88,980,921 (GRCm39)	H420R	probably benign	Het
Slc22a16	T	C	10: 40,446,677 (GRCm39)		probably benign	Het
Slc5a1	A	G	5: 33,302,632 (GRCm39)	T208A	probably benign	Het
Sparc	T	C	11: 55,296,062 (GRCm39)	M121V	probably benign	Het
Sstr1	G	T	12: 58,260,417 (GRCm39)	A347S	probably benign	Het
Stab1	C	A	14: 30,879,402 (GRCm39)	V693F	probably benign	Het
Tnn	A	G	1: 159,972,681 (GRCm39)	V307A	probably benign	Het
Trmt1	A	G	8: 85,417,382 (GRCm39)		probably benign	Het
Ttc3	T	C	16: 94,243,760 (GRCm39)	S1255P	probably benign	Het
Ube2ql1	A	C	13: 69,887,276 (GRCm39)	S62A	unknown	Het
Vmn2r84	T	A	10: 130,221,809 (GRCm39)	M804L	probably damaging	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Vps50	A	G	6: 3,562,306 (GRCm39)	E467G	probably damaging	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
IGL02823:Atrip	APN	9	108,890,246 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCGAGGCCAATTCAATAGAC -3'
(R):5'- CGCTCACTGTGATGTTGCAC -3'

Sequencing Primer
(F):5'- GAGGCCAATTCAATAGACACCATC -3'
(R):5'- GCAATGGCTGACGGTGC -3'

Posted On

2015-09-24