Incidental Mutation 'IGL01760:Spidr'
ID153245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spidr
Ensembl Gene ENSMUSG00000041974
Gene Namescaffolding protein involved in DNA repair
Synonyms2310008H04Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.580) question?
Stock #IGL01760
Quality Score
Status
Chromosome16
Chromosomal Location15889224-16146851 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 15912560 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 664 (R664S)
Ref Sequence ENSEMBL: ENSMUSP00000038820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040248]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040248
AA Change: R664S

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: R664S

DomainStartEndE-ValueType
Pfam:DUF4502 11 390 1.8e-177 PFAM
low complexity region 499 508 N/A INTRINSIC
Pfam:DUF4503 540 921 2.2e-179 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229846
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T A 8: 83,731,957 T147S probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Chst3 A T 10: 60,186,470 V185D probably damaging Het
Col14a1 A C 15: 55,423,459 D892A unknown Het
Dopey1 A G 9: 86,519,923 T1059A probably benign Het
Erlec1 A C 11: 30,934,731 S441A probably benign Het
Frmd4b G T 6: 97,308,702 T289N probably damaging Het
Gm2016 A T 12: 87,877,021 probably benign Het
Gm6133 G A 18: 78,350,175 R128Q probably benign Het
Gnai2 A G 9: 107,616,518 S155P probably damaging Het
Hspg2 T C 4: 137,512,671 S517P possibly damaging Het
Ighv9-1 C A 12: 114,094,194 E29* probably null Het
Lrp1 T C 10: 127,573,501 K1583R probably benign Het
Ltbp1 C T 17: 75,227,150 T211M probably damaging Het
Mttp A G 3: 138,111,736 S418P probably benign Het
Napa A G 7: 16,098,744 N23S possibly damaging Het
Odf2 C A 2: 29,914,460 Q347K probably damaging Het
Ogdhl A G 14: 32,339,937 D504G probably damaging Het
Olfr433 T C 1: 174,042,625 L225P probably damaging Het
Pdxdc1 A T 16: 13,859,152 N273K probably damaging Het
Rslcan18 T C 13: 67,113,951 I11V probably benign Het
Tead3 T C 17: 28,333,081 N385S probably benign Het
Trim13 T A 14: 61,605,723 N396K probably benign Het
Trp53bp2 C T 1: 182,448,428 A160V possibly damaging Het
Vmn2r69 A G 7: 85,406,864 S689P possibly damaging Het
Vmn2r79 A T 7: 87,002,158 Q255L probably benign Het
Wsb1 T C 11: 79,242,041 Y276C probably damaging Het
Zfp236 G T 18: 82,621,422 N1233K probably damaging Het
Other mutations in Spidr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Spidr APN 16 15895578 missense probably damaging 1.00
IGL00482:Spidr APN 16 16114969 missense possibly damaging 0.94
IGL02142:Spidr APN 16 16048081 missense probably benign 0.25
IGL02392:Spidr APN 16 15889630 makesense probably null
IGL02430:Spidr APN 16 16114910 missense probably damaging 1.00
IGL03110:Spidr APN 16 15889754 missense probably damaging 1.00
R0011:Spidr UTSW 16 15966603 missense probably benign 0.00
R0504:Spidr UTSW 16 16140072 missense possibly damaging 0.73
R0505:Spidr UTSW 16 16037667 missense probably damaging 1.00
R0541:Spidr UTSW 16 15915365 missense probably damaging 1.00
R0675:Spidr UTSW 16 16037634 missense probably damaging 1.00
R0722:Spidr UTSW 16 15912781 missense probably damaging 1.00
R2005:Spidr UTSW 16 16048049 missense probably damaging 1.00
R2133:Spidr UTSW 16 16053273 missense probably benign 0.04
R2249:Spidr UTSW 16 16118923 missense probably damaging 1.00
R2876:Spidr UTSW 16 15912589 splice site probably null
R3087:Spidr UTSW 16 15968619 missense probably damaging 1.00
R3121:Spidr UTSW 16 16140860 missense probably damaging 1.00
R3765:Spidr UTSW 16 15968640 missense probably benign 0.39
R4896:Spidr UTSW 16 16118942 missense possibly damaging 0.70
R4939:Spidr UTSW 16 16140746 nonsense probably null
R5004:Spidr UTSW 16 16118942 missense possibly damaging 0.70
R5042:Spidr UTSW 16 16118903 missense probably benign 0.09
R5736:Spidr UTSW 16 15897298 missense probably damaging 1.00
R5839:Spidr UTSW 16 16037502 missense probably damaging 1.00
R5970:Spidr UTSW 16 16114869 missense probably damaging 1.00
R6084:Spidr UTSW 16 16140024 missense possibly damaging 0.87
R6386:Spidr UTSW 16 15968560 missense probably benign 0.02
R6572:Spidr UTSW 16 15912516 splice site probably null
X0025:Spidr UTSW 16 15889752 missense probably benign
Posted On2014-02-04