Incidental Mutation 'P0018:Gm13178'
ID7777
Institutional Source Beutler Lab
Gene Symbol Gm13178
Ensembl Gene ENSMUSG00000041735
Gene Namepredicted gene 13178
Synonyms
MMRRC Submission 038271-MU
Accession Numbers

Ncbi RefSeq: NM_001085536.1; MGI: 3650721

Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #P0018 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location144703191-144721404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 144703197 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 407 (D407E)
Ref Sequence ENSEMBL: ENSMUSP00000045343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036876]
Predicted Effect probably benign
Transcript: ENSMUST00000036876
AA Change: D407E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: D407E

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
Meta Mutation Damage Score 0.128 question?
Coding Region Coverage
  • 1x: 83.8%
  • 3x: 77.4%
  • 10x: 57.9%
  • 20x: 38.3%
Validation Efficiency 72% (76/106)
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC067074 A G 13: 113,367,506 D1723G possibly damaging Het
Brip1 C T 11: 86,108,868 V763I possibly damaging Het
Cxxc1 C T 18: 74,220,921 R593C probably damaging Het
Erbb4 T A 1: 68,071,676 M993L probably benign Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Het
Galnt2 T A 8: 124,336,611 Y357N probably damaging Het
Hgsnat C T 8: 25,968,354 probably benign Het
Katna1 A T 10: 7,741,459 T72S probably damaging Het
Nell1 A G 7: 50,120,691 D166G probably damaging Het
Nlgn1 G T 3: 25,436,577 P329T probably damaging Het
Pclo A T 5: 14,677,721 probably benign Het
Robo2 T C 16: 74,046,806 I174V possibly damaging Het
Sufu A G 19: 46,475,494 probably benign Het
Tmub1 C A 5: 24,446,757 A55S possibly damaging Het
Other mutations in Gm13178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Gm13178 APN 4 144703693 missense possibly damaging 0.87
IGL01985:Gm13178 APN 4 144715454 nonsense probably null
IGL02587:Gm13178 APN 4 144703399 missense possibly damaging 0.94
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 possibly damaging 0.66
Posted On2012-10-29