Incidental Mutation 'IGL01946:Gm3371'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3371
Ensembl Gene ENSMUSG00000090716
Gene Namepredicted gene 3371
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01946
Quality Score
Chromosomal Location44402671-44410688 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44408721 bp
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

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

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