Incidental Mutation 'IGL02268:Gm17689'
ID287009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm17689
Ensembl Gene ENSMUSG00000091248
Gene Namepredicted gene, 17689
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL02268
Quality Score
Status
Chromosome9
Chromosomal Location36581278-36582635 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36581870 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 52 (Y52C)
Ref Sequence ENSEMBL: ENSMUSP00000126891 (fasta)
Predicted Effect possibly damaging
Transcript: ENSMUST00000170030
AA Change: Y52C

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500015O10Rik T A 1: 43,730,951 C23S probably damaging Het
2310057J18Rik C T 10: 28,986,246 C16Y probably benign Het
5330417C22Rik C A 3: 108,467,797 A585S probably benign Het
Abca13 C T 11: 9,290,626 L830F probably benign Het
Apcdd1 T C 18: 62,950,188 V363A probably damaging Het
Cachd1 A G 4: 100,952,097 I260V possibly damaging Het
Cass4 T A 2: 172,427,042 M350K possibly damaging Het
Ccdc129 A T 6: 55,884,688 probably benign Het
Ccnjl A G 11: 43,579,788 T128A probably benign Het
Cd6 C T 19: 10,796,388 G361D probably benign Het
Cdh22 T C 2: 165,123,719 probably benign Het
Ces2h T A 8: 105,019,940 F475Y probably benign Het
Col15a1 A T 4: 47,245,380 T44S probably damaging Het
Cplx3 C T 9: 57,602,458 E86K possibly damaging Het
Crbn A G 6: 106,795,043 V100A possibly damaging Het
D430041D05Rik C A 2: 104,241,155 V1267L possibly damaging Het
F930017D23Rik A G 10: 43,604,409 noncoding transcript Het
Fam214b T A 4: 43,036,468 R88* probably null Het
Fastkd3 A G 13: 68,583,677 D39G probably damaging Het
Golgb1 T A 16: 36,913,128 S912R probably benign Het
H2-T24 T C 17: 36,017,372 Y73C probably damaging Het
Ifna9 A T 4: 88,592,354 L11* probably null Het
Igsf10 A T 3: 59,331,152 L536* probably null Het
Kcnma1 A T 14: 23,543,076 I215K probably damaging Het
Kdm4c A C 4: 74,373,716 I857L possibly damaging Het
Kptn A T 7: 16,123,861 H229L probably benign Het
Krt32 A T 11: 100,088,141 M29K probably benign Het
Lama2 A G 10: 27,001,116 probably benign Het
Lpcat2b A C 5: 107,434,116 D437A probably damaging Het
Lrrc8c T C 5: 105,607,898 L513P probably damaging Het
Mon1a T C 9: 107,901,798 V407A possibly damaging Het
Myo5c C T 9: 75,246,237 P135L probably damaging Het
Myof C T 19: 37,954,429 V218M possibly damaging Het
Myof T A 19: 37,974,863 I429F possibly damaging Het
Nbas A G 12: 13,405,397 D1204G possibly damaging Het
Nckap1 G A 2: 80,528,618 P560S probably benign Het
Notch2 G A 3: 98,137,397 G1545D probably damaging Het
Ntrk1 G A 3: 87,781,531 H572Y probably damaging Het
Olfr314 T C 11: 58,786,725 F164L probably benign Het
Olfr873 T C 9: 20,300,292 S31P probably damaging Het
Pcdh15 A T 10: 74,342,672 D587V probably damaging Het
Pik3cb T C 9: 99,046,556 Y882C probably benign Het
Plch1 T A 3: 63,699,283 *1074C probably null Het
Plcxd1 T C 5: 110,100,274 probably benign Het
Ppp2r2d A G 7: 138,872,971 N27S probably null Het
Prkar2a A G 9: 108,746,953 M390V probably benign Het
Rab3gap1 A G 1: 127,868,958 T18A probably damaging Het
Ranbp2 T C 10: 58,493,653 probably benign Het
Rasl12 T C 9: 65,398,664 S34P probably damaging Het
Rpusd3 A T 6: 113,418,857 L65Q possibly damaging Het
Rtf2 A G 2: 172,468,719 K290R probably damaging Het
Rwdd4a T A 8: 47,550,696 L179* probably null Het
Scgb1b24 A G 7: 33,744,963 E87G possibly damaging Het
Sgo2a A G 1: 58,017,722 I1022V probably benign Het
Smg1 A C 7: 118,182,541 I1174M probably benign Het
Spata17 A T 1: 187,140,398 M72K probably damaging Het
Synpo2 G A 3: 123,116,983 P338S probably damaging Het
Tpi1 G A 6: 124,814,124 T50I probably benign Het
Trpm1 A G 7: 64,217,614 E354G probably damaging Het
Uba2 A G 7: 34,142,736 probably null Het
Wnk1 G A 6: 119,937,373 R1823* probably null Het
Zfp248 A C 6: 118,453,840 probably benign Het
Zfp51 A T 17: 21,463,419 K99* probably null Het
Other mutations in Gm17689
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Gm17689 APN 9 36581363 missense probably benign 0.00
IGL01693:Gm17689 APN 9 36581366 missense probably benign 0.31
IGL03191:Gm17689 APN 9 36581402 missense probably benign 0.00
PIT4354001:Gm17689 UTSW 9 36581301 missense possibly damaging 0.71
R0401:Gm17689 UTSW 9 36582628 missense unknown
R0743:Gm17689 UTSW 9 36581301 missense probably benign 0.03
R1483:Gm17689 UTSW 9 36581324 missense probably benign 0.00
R1701:Gm17689 UTSW 9 36581818 critical splice donor site probably benign
R2258:Gm17689 UTSW 9 36581865 missense probably benign 0.03
R3764:Gm17689 UTSW 9 36581818 critical splice donor site probably null
R5143:Gm17689 UTSW 9 36581904 missense probably benign 0.31
R6783:Gm17689 UTSW 9 36581335 splice site probably null
R7013:Gm17689 UTSW 9 36582558 missense unknown
R7014:Gm17689 UTSW 9 36582558 missense unknown
Posted On2015-04-16