Incidental Mutation 'R1452:Atrip'
ID 161080
Institutional Source Beutler Lab
Gene Symbol Atrip
Ensembl Gene ENSMUSG00000025646
Gene Name ATR interacting protein
Synonyms 6620401K05Rik
MMRRC Submission 039507-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1452 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108888815-108903192 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108901727 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,015 (GRCm39) I1446M probably benign Het
Acaca T A 11: 84,185,885 (GRCm39) probably benign Het
Adgre4 A T 17: 56,091,996 (GRCm39) E85D probably benign Het
Akt3 A T 1: 176,958,633 (GRCm39) Y26N possibly damaging Het
Arl15 T C 13: 114,104,319 (GRCm39) V132A probably benign Het
Atp6v1h A G 1: 5,168,360 (GRCm39) probably benign Het
Bahcc1 T G 11: 120,173,065 (GRCm39) probably benign Het
Cd53 C T 3: 106,676,275 (GRCm39) G31S probably damaging Het
Cdk14 T C 5: 4,938,927 (GRCm39) S404G possibly damaging Het
Cers3 A T 7: 66,433,152 (GRCm39) K156N probably damaging Het
Colgalt2 C A 1: 152,379,904 (GRCm39) L448M probably damaging Het
Cox15 G T 19: 43,735,344 (GRCm39) T141K probably damaging Het
Csnk2a2 C T 8: 96,184,003 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,624,813 (GRCm39) probably benign Het
Cyp2c55 A G 19: 38,999,534 (GRCm39) Y80C probably damaging Het
Depdc1a A G 3: 159,232,328 (GRCm39) Y693C possibly damaging Het
Des T C 1: 75,340,121 (GRCm39) S343P probably damaging Het
Dync1i2 T C 2: 71,080,207 (GRCm39) probably benign Het
Eif3m T A 2: 104,837,122 (GRCm39) Q199L probably damaging Het
Emsy G T 7: 98,249,881 (GRCm39) T802K probably damaging Het
Endov A G 11: 119,382,651 (GRCm39) T33A probably damaging Het
Epb41l5 G A 1: 119,476,896 (GRCm39) T728I probably damaging Het
Fbxo39 A G 11: 72,209,228 (GRCm39) I363V probably benign Het
Gm8674 C T 13: 50,054,553 (GRCm39) noncoding transcript Het
Il6st T A 13: 112,617,998 (GRCm39) N137K possibly damaging Het
Inf2 A G 12: 112,567,778 (GRCm39) N136S probably damaging Het
Iqub A T 6: 24,491,558 (GRCm39) I376N probably benign Het
Kansl3 A G 1: 36,393,874 (GRCm39) probably benign Het
Kbtbd2 A T 6: 56,758,909 (GRCm39) H71Q probably damaging Het
Lgals8 G T 13: 12,468,208 (GRCm39) Y140* probably null Het
Mab21l4 T C 1: 93,080,661 (GRCm39) Y415C probably damaging Het
Macf1 T A 4: 123,387,791 (GRCm39) I924L probably benign Het
Mcoln2 A T 3: 145,887,569 (GRCm39) T329S possibly damaging Het
Mex3d A T 10: 80,217,354 (GRCm39) L621Q probably damaging Het
Mmut A G 17: 41,248,359 (GRCm39) probably benign Het
Ncor1 T C 11: 62,225,457 (GRCm39) H1038R probably damaging Het
Neb A G 2: 52,161,309 (GRCm39) probably null Het
Ngrn A G 7: 79,914,520 (GRCm39) T224A probably benign Het
Nin G A 12: 70,064,424 (GRCm39) R2019* probably null Het
Nphp4 C G 4: 152,631,475 (GRCm39) Q792E probably damaging Het
Or13e8 C T 4: 43,696,823 (GRCm39) V117M probably benign Het
Or2z9 C T 8: 72,854,020 (GRCm39) Q139* probably null Het
Or4c3d C T 2: 89,882,015 (GRCm39) V218I possibly damaging Het
Or5d38 C T 2: 87,954,655 (GRCm39) V225I probably benign Het
Or8k3 T A 2: 86,058,799 (GRCm39) N172I probably damaging Het
Pde4dip C A 3: 97,631,418 (GRCm39) V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Ppp2r5e A G 12: 75,516,310 (GRCm39) probably benign Het
Prim2 T A 1: 33,669,485 (GRCm39) E163D probably benign Het
Prrc2b A T 2: 32,084,997 (GRCm39) D296V probably damaging Het
Pter A G 2: 12,983,432 (GRCm39) probably benign Het
Resf1 A T 6: 149,228,130 (GRCm39) K392I probably damaging Het
Robo2 C A 16: 73,758,798 (GRCm39) V662L probably damaging Het
Sirpd G T 3: 15,397,212 (GRCm39) T24K unknown Het
Slco1b2 A T 6: 141,617,926 (GRCm39) I424F probably benign Het
Snx29 A T 16: 11,449,335 (GRCm39) H260L probably damaging Het
Stil A G 4: 114,896,392 (GRCm39) N959S probably benign Het
Taar8c A T 10: 23,977,508 (GRCm39) D101E probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 G A 9: 8,653,148 (GRCm39) M573I probably damaging Het
Tsr1 A T 11: 74,790,425 (GRCm39) D171V probably benign Het
Ube4b T C 4: 149,455,626 (GRCm39) T348A probably damaging Het
Vmn1r85 A T 7: 12,818,808 (GRCm39) I112N probably damaging Het
Vps36 A G 8: 22,708,226 (GRCm39) probably null Het
Wdfy3 G A 5: 102,085,604 (GRCm39) A630V possibly damaging Het
Wdsub1 A T 2: 59,707,144 (GRCm39) D14E probably null Het
Ylpm1 T C 12: 85,077,157 (GRCm39) I1294T possibly damaging Het
Zdhhc17 A G 10: 110,790,936 (GRCm39) F378L probably benign Het
Other mutations in Atrip
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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