Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Atrip'

62666

Institutional Source

Beutler Lab

Gene Symbol

Atrip

Ensembl Gene

ENSMUSG00000025646

Gene Name

ATR interacting protein

Synonyms

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0709 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

109057933-109074124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109067103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 282 (N282S)

Ref Sequence

ENSEMBL: ENSMUSP00000125264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045011] [ENSMUST00000159614] [ENSMUST00000160217] [ENSMUST00000161521]

AlphaFold

Q8BMG1

Predicted Effect

probably benign
Transcript: ENSMUST00000045011
AA Change: N282S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: N282S

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: 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: ENSMUST00000160217
AA Change: N282S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646
AA Change: N282S

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

noncoding transcript
Transcript: ENSMUST00000161270

Predicted Effect

probably benign
Transcript: ENSMUST00000161521
AA Change: N282S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: N282S

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: ENSMUST00000194199

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGACTCCTGTGTGCCCAAACATTC -3'
(R):5'- AGGGTTGCTCTGTGAAACAAAGGAC -3'

Sequencing Primer
(F):5'- GGACAGGGTTCTCAGACAATTCC -3'
(R):5'- CTCTGCTTTTGACTGGGTTTACG -3'

Posted On

2013-07-30