Incidental Mutation 'IGL02475:Gm20390'
ID294919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20390
Ensembl Gene ENSMUSG00000091228
Gene Namepredicted gene 20390
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02475
Quality Score
Status
Chromosome11
Chromosomal Location93949819-93968293 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93955574 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 16 (V16A)
Ref Sequence ENSEMBL: ENSMUSP00000103476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021217] [ENSMUST00000021220] [ENSMUST00000072566] [ENSMUST00000135884] [ENSMUST00000170303]
Predicted Effect probably damaging
Transcript: ENSMUST00000021217
AA Change: V16A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021217
Gene: ENSMUSG00000020857
AA Change: V16A

DomainStartEndE-ValueType
NDK 4 141 2.8e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021220
SMART Domains Protein: ENSMUSP00000021220
Gene: ENSMUSG00000037601

DomainStartEndE-ValueType
NDK 4 127 8.86e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000072566
AA Change: V16A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103476
Gene: ENSMUSG00000020857
AA Change: V16A

DomainStartEndE-ValueType
NDK 4 141 2.8e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135884
SMART Domains Protein: ENSMUSP00000117022
Gene: ENSMUSG00000037601

DomainStartEndE-ValueType
NDK 4 141 5.74e-87 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170303
AA Change: V131A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132590
Gene: ENSMUSG00000091228
AA Change: V131A

DomainStartEndE-ValueType
NDK 4 118 7.56e-55 SMART
NDK 119 256 2.8e-90 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype NO_PHENOTYPE,Mice homozygous for a gene trap allele exhibit impaired Th1 and Th2 cell KCa3.1 channel activity and TCR-stimulated calcium ion flux and cytokine production.
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,533 probably benign Het
5730409E04Rik A G 4: 126,611,949 E90G probably damaging Het
Abhd6 T A 14: 8,039,849 I27N probably damaging Het
Akap6 A T 12: 53,139,494 E1230D probably benign Het
Bcl2l12 A G 7: 44,996,893 V31A possibly damaging Het
Cep350 G A 1: 155,862,595 R2501W probably damaging Het
Cnga3 A G 1: 37,257,991 probably null Het
Crcp T C 5: 130,059,858 probably benign Het
Creb5 G A 6: 53,693,924 S304N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah5 A G 15: 28,219,150 D38G probably benign Het
Fam171a1 A G 2: 3,223,490 I293V possibly damaging Het
Fbxw10 T C 11: 62,857,735 V396A possibly damaging Het
Gm10340 G A 14: 3,140,482 probably benign Het
Grik3 A G 4: 125,650,517 T344A probably benign Het
Itga7 T C 10: 128,934,089 F34S probably damaging Het
Musk T C 4: 58,353,936 probably benign Het
Neb G T 2: 52,292,819 N1038K probably damaging Het
Nf1 T C 11: 79,535,667 Y1636H probably damaging Het
Ngef G T 1: 87,479,150 T632K possibly damaging Het
Nts A G 10: 102,490,247 probably benign Het
Olfml2b A G 1: 170,682,174 D697G probably damaging Het
Olfr1031 T C 2: 85,992,032 F72L probably benign Het
Olfr1502 T A 19: 13,862,299 C169S probably damaging Het
Olfr205 A T 16: 59,328,725 H261Q probably benign Het
Otof T C 5: 30,376,682 R1428G probably damaging Het
Pgghg T C 7: 140,945,720 S479P Het
Rnaseh2b T A 14: 62,346,615 F37I probably damaging Het
Rtn4 T A 11: 29,733,801 I1031N probably damaging Het
Rxfp2 A G 5: 150,063,686 E344G probably benign Het
Scel A G 14: 103,537,008 R89G possibly damaging Het
Sirt4 T C 5: 115,482,996 E39G probably benign Het
Slc6a12 T A 6: 121,354,375 probably null Het
Snapc3 C A 4: 83,450,096 H277N probably benign Het
Susd2 A G 10: 75,637,499 probably null Het
Tagap1 T C 17: 6,956,427 Q290R probably benign Het
Tenm3 A T 8: 48,279,198 probably benign Het
Tmem54 A T 4: 129,108,280 H40L probably damaging Het
Tnks1bp1 T C 2: 85,059,377 S683P probably damaging Het
Tnpo2 A G 8: 85,050,502 D547G probably benign Het
Tpd52l2 G A 2: 181,499,874 V17M probably benign Het
Trip11 T A 12: 101,895,683 T208S probably benign Het
Ttc17 C A 2: 94,364,376 D551Y probably damaging Het
Ttll12 A T 15: 83,587,101 W222R probably damaging Het
Xkr8 A T 4: 132,728,201 I287N probably damaging Het
Zdhhc2 G T 8: 40,473,025 G354C probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Gm20390
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Gm20390 APN 11 93955621 unclassified probably benign
IGL02620:Gm20390 APN 11 93952856 missense possibly damaging 0.69
Posted On2015-04-16