Incidental Mutation 'IGL01021:Gm3278'
ID53978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3278
Ensembl Gene ENSMUSG00000091185
Gene Namepredicted gene 3278
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01021
Quality Score
Status
Chromosome14
Chromosomal Location4892416-4902431 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 4895222 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 159 (V159L)
Ref Sequence ENSEMBL: ENSMUSP00000131885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164459]
Predicted Effect possibly damaging
Transcript: ENSMUST00000164459
AA Change: V159L

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131885
Gene: ENSMUSG00000091185
AA Change: V159L

DomainStartEndE-ValueType
Pfam:Takusan 48 128 7.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181364
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 125,318,676 V80A unknown Het
Adam28 A G 14: 68,642,114 S162P probably benign Het
Adamts14 G T 10: 61,225,373 S426Y probably damaging Het
Ankrd24 A G 10: 81,635,161 probably null Het
B3galt5 C A 16: 96,315,723 H185Q probably benign Het
Bod1l A G 5: 41,838,173 probably benign Het
Ddx46 T A 13: 55,666,332 Y700* probably null Het
Dph7 T G 2: 24,971,923 probably null Het
Fcho1 A T 8: 71,713,523 Y354* probably null Het
Fnbp4 A G 2: 90,777,669 M912V probably benign Het
Fpgt T A 3: 155,091,492 E42V possibly damaging Het
Frmd3 A G 4: 74,074,120 I75V possibly damaging Het
Gm10264 G A 12: 88,329,272 G7R unknown Het
Gmds T C 13: 32,127,030 I205V possibly damaging Het
Gprin1 T A 13: 54,740,369 S31C probably damaging Het
Igkv4-68 T C 6: 69,304,881 E102G probably damaging Het
Itga1 T A 13: 114,997,000 Y458F probably benign Het
Kif20b T C 19: 34,938,260 V479A possibly damaging Het
Megf8 T A 7: 25,338,374 W772R probably benign Het
Muc6 T A 7: 141,637,162 I2533F possibly damaging Het
Npas3 T C 12: 54,003,560 S258P probably damaging Het
Padi3 T C 4: 140,796,334 probably benign Het
Pmfbp1 G T 8: 109,537,993 R897L possibly damaging Het
Rims1 A T 1: 22,486,620 W407R probably damaging Het
Scnn1b G T 7: 121,918,036 D632Y probably damaging Het
Tas2r123 G A 6: 132,847,406 A89T probably benign Het
Tbk1 T C 10: 121,551,272 E706G probably benign Het
Thra A G 11: 98,762,928 D195G possibly damaging Het
Tpp2 T A 1: 43,934,187 Y33* probably null Het
Usp6nl T A 2: 6,424,387 M220K probably damaging Het
Vmn2r112 C T 17: 22,618,904 T782I probably damaging Het
Zbtb43 T C 2: 33,453,759 T485A probably benign Het
Zfat T C 15: 68,170,166 I840V possibly damaging Het
Other mutations in Gm3278
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01788:Gm3278 APN 14 4893332 missense probably benign 0.45
R7506:Gm3278 UTSW 14 4893441 missense probably damaging 1.00
R7660:Gm3278 UTSW 14 4893349 missense probably damaging 0.97
R7806:Gm3278 UTSW 14 4895172 critical splice acceptor site probably null
Posted On2013-06-28