Incidental Mutation 'IGL02871:Gm3269'
ID362566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3269
Ensembl Gene ENSMUSG00000091494
Gene Namepredicted gene 3269
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02871
Quality Score
Status
Chromosome14
Chromosomal Location4838106-4846867 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4841042 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 193 (N193I)
Ref Sequence ENSEMBL: ENSMUSP00000137595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166025] [ENSMUST00000178137]
Predicted Effect probably damaging
Transcript: ENSMUST00000166025
AA Change: N193I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132121
Gene: ENSMUSG00000091494
AA Change: N193I

DomainStartEndE-ValueType
Pfam:Takusan 48 128 4.1e-20 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178137
AA Change: N193I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137595
Gene: ENSMUSG00000091494
AA Change: N193I

DomainStartEndE-ValueType
Pfam:Takusan 46 129 6.3e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 C A 13: 114,154,838 H179Q probably benign Het
Bin3 T A 14: 70,128,905 C72* probably null Het
Brca2 C T 5: 150,542,552 T1927I probably benign Het
Cap2 A G 13: 46,525,492 D26G probably benign Het
Casz1 T G 4: 148,944,319 S1074A possibly damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Exosc9 A G 3: 36,565,281 N408S probably benign Het
Ezr G A 17: 6,742,390 Q352* probably null Het
Fbxl4 T A 4: 22,386,213 D273E probably benign Het
Haus8 A T 8: 71,256,494 M90K probably benign Het
Igkv5-39 A T 6: 69,900,506 S89T probably benign Het
Nlrp4b A C 7: 10,715,265 D465A probably benign Het
Nsf A G 11: 103,862,056 probably benign Het
Nt5c1b G A 12: 10,381,325 M409I probably damaging Het
Olfr1195 T A 2: 88,683,084 Y216F probably damaging Het
Olfr1248 T C 2: 89,618,160 I11V probably benign Het
Olfr199 T A 16: 59,216,374 K80* probably null Het
Pga5 T C 19: 10,671,780 probably benign Het
Pigk T A 3: 152,766,516 I355K probably damaging Het
Prom1 T C 5: 44,029,676 Y404C probably damaging Het
Ptprs T C 17: 56,447,443 E199G probably damaging Het
Sec24c T C 14: 20,692,882 S935P probably benign Het
Slc22a13 T C 9: 119,196,011 T200A probably benign Het
Svep1 T A 4: 58,100,871 I1264L probably benign Het
Tcf7l2 T A 19: 55,918,997 C349S probably damaging Het
Thbs2 T C 17: 14,685,786 H284R probably benign Het
Vmn2r19 C T 6: 123,336,083 S704L probably damaging Het
Vmn2r50 A G 7: 10,047,787 Y344H possibly damaging Het
Other mutations in Gm3269
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3551:Gm3269 UTSW 14 4845893 missense possibly damaging 0.86
Posted On2015-12-18