Incidental Mutation 'IGL00661:Gm13178'
ID10994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm13178
Ensembl Gene ENSMUSG00000041735
Gene Namepredicted gene 13178
Synonyms
Accession Numbers

Ncbi RefSeq: NM_001085536.1; MGI: 3650721

Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL00661
Quality Score
Status
Chromosome4
Chromosomal Location144703191-144721404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144703693 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 242 (V242A)
Ref Sequence ENSEMBL: ENSMUSP00000045343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036876]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036876
AA Change: V242A

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: V242A

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
transmembrane domain 43 60 N/A INTRINSIC
low complexity region 79 84 N/A INTRINSIC
Pfam:Abhydrolase_3 116 286 2.3e-27 PFAM
Pfam:Abhydrolase_3 287 382 8.8e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209924
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr2 T C 5: 98,004,296 D152G probably benign Het
Blmh A T 11: 76,965,932 K118* probably null Het
Bnip3 G A 7: 138,898,072 P62L probably damaging Het
Catsperb A T 12: 101,588,098 T684S probably damaging Het
Chd3 C A 11: 69,357,383 K894N possibly damaging Het
Chkb T A 15: 89,427,591 R133S probably benign Het
Dennd5a T C 7: 109,908,372 N803S probably benign Het
Dync2li1 A T 17: 84,649,240 D276V possibly damaging Het
Erap1 T C 13: 74,674,789 probably benign Het
Hgsnat C T 8: 25,972,937 V70M probably benign Het
Leprot T C 4: 101,652,476 probably null Het
Lhcgr G A 17: 88,750,118 A315V probably benign Het
Lrrn4 C T 2: 132,870,668 V412I probably benign Het
Macrod2 G A 2: 140,419,904 probably null Het
Mmaa G A 8: 79,281,570 R13C probably damaging Het
Plpp4 T A 7: 129,316,299 I66N probably damaging Het
Prl4a1 T C 13: 28,021,376 V108A probably benign Het
Prss1 G T 6: 41,462,619 K95N possibly damaging Het
Rasa2 C T 9: 96,577,553 probably benign Het
Relb A G 7: 19,616,411 V208A possibly damaging Het
Sema3d T C 5: 12,505,839 S178P probably damaging Het
Slc18a1 A T 8: 69,073,731 W102R probably benign Het
Slc39a8 A C 3: 135,858,112 K239N probably benign Het
Stap1 A G 5: 86,081,273 H100R probably benign Het
Suz12 T A 11: 79,999,092 V143E probably damaging Het
Tmf1 A G 6: 97,176,494 V206A probably benign Het
Trim16 T A 11: 62,837,232 probably benign Het
Ube2b C T 11: 52,000,292 probably null Het
Vmn1r223 T C 13: 23,250,084 S283P probably damaging Het
Wrn T A 8: 33,319,145 probably benign Het
Other mutations in Gm13178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01985:Gm13178 APN 4 144715454 nonsense probably null
IGL02587:Gm13178 APN 4 144703399 missense possibly damaging 0.94
P0018:Gm13178 UTSW 4 144703197 missense probably benign 0.00
R0395:Gm13178 UTSW 4 144703195 missense probably benign 0.14
R1617:Gm13178 UTSW 4 144715391 missense probably damaging 1.00
R3802:Gm13178 UTSW 4 144703504 missense possibly damaging 0.82
R4409:Gm13178 UTSW 4 144721302 missense possibly damaging 0.86
R4577:Gm13178 UTSW 4 144703753 missense probably damaging 1.00
R4603:Gm13178 UTSW 4 144703228 missense probably benign 0.00
R5069:Gm13178 UTSW 4 144703867 missense probably damaging 1.00
R5801:Gm13178 UTSW 4 144703636 missense probably damaging 1.00
R5802:Gm13178 UTSW 4 144703636 missense probably damaging 1.00
R5893:Gm13178 UTSW 4 144703196 missense probably benign
R6148:Gm13178 UTSW 4 144721317 missense possibly damaging 0.89
R6466:Gm13178 UTSW 4 144703867 missense probably damaging 1.00
R6655:Gm13178 UTSW 4 144705245 missense probably damaging 1.00
R7006:Gm13178 UTSW 4 144721283 missense probably benign 0.00
R7021:Gm13178 UTSW 4 144715492 missense probably damaging 1.00
R7030:Gm13178 UTSW 4 144703603 missense possibly damaging 0.85
R7514:Gm13178 UTSW 4 144703228 missense not run
Posted On2012-12-06