Incidental Mutation 'IGL02175:Tor1aip2'
ID283074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tor1aip2
Ensembl Gene ENSMUSG00000050565
Gene Nametorsin A interacting protein 2
Synonyms15kDa, Ifrg15, LULL1, 1110020D10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.194) question?
Stock #IGL02175
Quality Score
Status
Chromosome1
Chromosomal Location156035403-156068861 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 156065006 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 353 (S353P)
Ref Sequence ENSEMBL: ENSMUSP00000107387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060404] [ENSMUST00000111757]
Predicted Effect probably damaging
Transcript: ENSMUST00000060404
AA Change: S353P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: S353P

DomainStartEndE-ValueType
Pfam:LAP1C 26 501 3.9e-222 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111757
AA Change: S353P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: S353P

DomainStartEndE-ValueType
Pfam:LAP1C 26 501 3.9e-169 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125371
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,535,013 probably null Het
Adgrf5 A G 17: 43,451,010 I1199V probably damaging Het
Atm T A 9: 53,480,665 H1808L probably damaging Het
Cadps C T 14: 12,467,092 V942M probably damaging Het
Capns1 T C 7: 30,190,532 D116G probably benign Het
Ccdc110 T G 8: 45,940,623 M124R probably benign Het
Cdh23 T C 10: 60,331,308 N1855S possibly damaging Het
Dstyk T A 1: 132,449,391 L245* probably null Het
Dync2h1 A G 9: 7,111,548 Y289H possibly damaging Het
Efcab6 G A 15: 83,896,100 A1044V probably damaging Het
Egr1 T C 18: 34,863,055 S297P probably benign Het
Ercc6l2 T C 13: 63,869,190 probably benign Het
Frem2 C T 3: 53,655,599 A496T possibly damaging Het
Hook2 T A 8: 84,991,402 W53R probably damaging Het
Med19 T A 2: 84,678,663 probably null Het
Mgrn1 A G 16: 4,920,368 N262S probably benign Het
Nbas T G 12: 13,566,259 probably null Het
Ndc80 A C 17: 71,511,419 M314R probably benign Het
Nelfcd A T 2: 174,420,382 T89S probably benign Het
Nlrp4a A T 7: 26,475,097 E969D probably damaging Het
Ntrk3 A G 7: 78,247,228 V687A probably damaging Het
Oc90 A C 15: 65,883,825 S224R possibly damaging Het
Olfr1241 T C 2: 89,482,282 I284M possibly damaging Het
Plxnb1 C T 9: 109,100,846 H257Y possibly damaging Het
Prpf3 A G 3: 95,834,107 V579A probably damaging Het
Rarres1 T C 3: 67,495,756 N104S probably benign Het
Serpina1d T C 12: 103,765,696 probably null Het
Sik2 G A 9: 50,895,609 Q834* probably null Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Snx13 T A 12: 35,132,062 N703K possibly damaging Het
Spaca9 T C 2: 28,695,924 I43V probably benign Het
Trmt1l T C 1: 151,448,484 S361P probably benign Het
Trpm2 T C 10: 77,937,907 H558R probably benign Het
Vmn1r75 T C 7: 11,880,847 C127R probably damaging Het
Zfp879 A T 11: 50,837,916 Y84N probably benign Het
Other mutations in Tor1aip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Tor1aip2 APN 1 156059539 missense probably benign 0.05
IGL02328:Tor1aip2 APN 1 156064974 missense probably damaging 0.98
R0143:Tor1aip2 UTSW 1 156059548 missense probably benign 0.06
R1037:Tor1aip2 UTSW 1 156065336 missense probably benign 0.00
R1146:Tor1aip2 UTSW 1 156064737 missense possibly damaging 0.51
R1146:Tor1aip2 UTSW 1 156064737 missense possibly damaging 0.51
R1694:Tor1aip2 UTSW 1 156065285 missense probably benign
R1922:Tor1aip2 UTSW 1 156064794 missense probably damaging 1.00
R1955:Tor1aip2 UTSW 1 156051842 intron probably benign
R2131:Tor1aip2 UTSW 1 156065349 missense probably damaging 0.97
R3758:Tor1aip2 UTSW 1 156065289 missense probably damaging 0.98
R4243:Tor1aip2 UTSW 1 156065436 missense probably damaging 0.98
R4583:Tor1aip2 UTSW 1 156065142 missense probably benign 0.01
R4678:Tor1aip2 UTSW 1 156065034 missense probably damaging 0.99
R5564:Tor1aip2 UTSW 1 156063561 unclassified probably benign
R6316:Tor1aip2 UTSW 1 156062094 missense probably damaging 0.99
R6713:Tor1aip2 UTSW 1 156065409 missense probably damaging 0.99
R6892:Tor1aip2 UTSW 1 156065181 missense possibly damaging 0.95
R7137:Tor1aip2 UTSW 1 156051976 missense possibly damaging 0.82
R8137:Tor1aip2 UTSW 1 156063668 missense possibly damaging 0.93
Z1176:Tor1aip2 UTSW 1 156052189 missense possibly damaging 0.66
Posted On2015-04-16