Incidental Mutation 'IGL02344:Atrip'
ID 289213
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 # IGL02344
Quality Score
Status
Chromosome 9
Chromosomal Location 108888815-108903192 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 108901692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 122 (K122*)
Ref Sequence ENSEMBL: ENSMUSP00000125615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045011] [ENSMUST00000160217] [ENSMUST00000161521] [ENSMUST00000192801]
AlphaFold Q8BMG1
Predicted Effect probably null
Transcript: ENSMUST00000045011
AA Change: K122*
SMART Domains Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: K122*

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 null
Transcript: ENSMUST00000160217
AA Change: K122*
SMART Domains Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646
AA Change: K122*

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 null
Transcript: ENSMUST00000161521
AA Change: K122*
SMART Domains Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: K122*

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
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T C 2: 34,979,198 (GRCm39) N167D probably benign Het
AI467606 G T 7: 126,691,691 (GRCm39) A89S probably damaging Het
B3glct C T 5: 149,650,313 (GRCm39) R139* probably null Het
Cep135 A G 5: 76,764,668 (GRCm39) T549A probably benign Het
Chd8 T C 14: 52,439,107 (GRCm39) N64S probably damaging Het
Dock2 T C 11: 34,622,337 (GRCm39) I101V probably damaging Het
Ipo5 T C 14: 121,180,191 (GRCm39) probably benign Het
Ly6g5c A G 17: 35,329,723 (GRCm39) T68A possibly damaging Het
Mthfd1l A G 10: 3,998,272 (GRCm39) probably null Het
Nme8 T A 13: 19,858,574 (GRCm39) E88V possibly damaging Het
Ptpn4 A T 1: 119,700,990 (GRCm39) D86E probably damaging Het
Rnf169 A G 7: 99,575,642 (GRCm39) S318P probably damaging Het
Sidt2 T C 9: 45,856,590 (GRCm39) Y493C probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tet3 A G 6: 83,380,815 (GRCm39) V451A probably benign Het
Tmc3 A T 7: 83,258,302 (GRCm39) I431L probably benign Het
Trp73 C T 4: 154,146,500 (GRCm39) G420S possibly damaging Het
Vmn2r108 T C 17: 20,689,405 (GRCm39) S517G probably damaging 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
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
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 2015-04-16