Incidental Mutation 'IGL01946:Gm3371'
ID180947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3371
Ensembl Gene ENSMUSG00000090716
Gene Namepredicted gene 3371
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01946
Quality Score
Status
Chromosome14
Chromosomal Location44402671-44410688 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44408721 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 96 (Y96H)
Ref Sequence ENSEMBL: ENSMUSP00000136656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177827]
Predicted Effect unknown
Transcript: ENSMUST00000172103
AA Change: Y35H
SMART Domains Protein: ENSMUSP00000130896
Gene: ENSMUSG00000090716
AA Change: Y35H

DomainStartEndE-ValueType
coiled coil region 51 81 N/A INTRINSIC
transmembrane domain 142 164 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177827
AA Change: Y96H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136656
Gene: ENSMUSG00000090716
AA Change: Y96H

DomainStartEndE-ValueType
Pfam:Takusan 13 93 3.5e-26 PFAM
coiled coil region 112 142 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,570,479 E343K possibly damaging Het
Abcc9 T C 6: 142,626,037 I1087V probably benign Het
Bcam A C 7: 19,760,117 Y416* probably null Het
Bhlhe22 T A 3: 18,055,796 C337S probably damaging Het
Cerkl T C 2: 79,393,020 D119G probably benign Het
Cog6 T C 3: 53,002,404 probably benign Het
Dchs1 T C 7: 105,759,105 D1840G probably damaging Het
Dhx16 G T 17: 35,885,504 M521I probably benign Het
Dnaja2 A G 8: 85,546,700 I196T probably damaging Het
Fbxw7 T C 3: 84,904,062 Y165H possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm884 T A 11: 103,612,933 R560S probably benign Het
H2-T10 G A 17: 36,120,716 A82V possibly damaging Het
Hydin A G 8: 110,490,718 T1413A possibly damaging Het
Krt23 T A 11: 99,492,839 M76L possibly damaging Het
Lipe A T 7: 25,383,276 M504K possibly damaging Het
Lta4h T A 10: 93,471,370 probably benign Het
Ltbp2 T C 12: 84,830,748 T348A probably damaging Het
Mybpc2 C A 7: 44,509,898 probably benign Het
Olfr550 T C 7: 102,578,527 probably null Het
Olfr582 T A 7: 103,042,150 S219T probably damaging Het
Pdp2 G A 8: 104,594,192 M224I probably benign Het
Pimreg C T 11: 72,044,978 probably benign Het
Pld1 A T 3: 28,124,617 S887C probably damaging Het
Ppp1r3g G A 13: 35,968,995 A133T possibly damaging Het
Prpf8 G A 11: 75,499,992 G1323D probably damaging Het
Rab3ip A G 10: 116,937,395 probably null Het
Rpain A G 11: 70,970,532 H9R possibly damaging Het
Scin T C 12: 40,060,491 probably benign Het
Serpinb6d A G 13: 33,671,386 T348A probably benign Het
Smad3 A G 9: 63,757,553 L42P probably damaging Het
Smr3a C T 5: 88,008,155 probably benign Het
Vmn2r13 G A 5: 109,174,219 T204I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfhx3 A G 8: 108,933,929 N1272D probably damaging Het
Other mutations in Gm3371
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Gm3371 APN 14 44403778 unclassified probably benign
R2962:Gm3371 UTSW 14 44408698 missense probably benign 0.01
R5212:Gm3371 UTSW 14 44403654 unclassified probably benign
Posted On2014-05-07