Incidental Mutation 'IGL03291:Gm5930'
ID415898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5930
Ensembl Gene ENSMUSG00000079267
Gene Namepredicted gene 5930
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL03291
Quality Score
Status
Chromosome14
Chromosomal Location44330442-44338584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44331448 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 239 (I239N)
Ref Sequence ENSEMBL: ENSMUSP00000107494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111863] [ENSMUST00000178002]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111863
AA Change: I239N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107494
Gene: ENSMUSG00000079267
AA Change: I239N

DomainStartEndE-ValueType
Pfam:Takusan 48 127 1.4e-27 PFAM
coiled coil region 147 177 N/A INTRINSIC
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178002
SMART Domains Protein: ENSMUSP00000136583
Gene: ENSMUSG00000079267

DomainStartEndE-ValueType
Pfam:Takusan 11 94 9.3e-37 PFAM
coiled coil region 112 142 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T A 7: 144,621,675 E502V probably damaging Het
Atic T C 1: 71,570,922 V364A probably benign Het
Cfap44 A T 16: 44,407,311 H125L possibly damaging Het
Ctnna2 T A 6: 76,973,712 E227V probably damaging Het
Ctsf A G 19: 4,859,634 I378V probably benign Het
Eya1 C T 1: 14,184,348 probably null Het
Fat2 C T 11: 55,262,595 R3597H probably benign Het
Gdpd5 T C 7: 99,460,121 probably benign Het
Glcci1 T A 6: 8,579,678 I293K probably damaging Het
Gm16503 T A 4: 147,541,078 Y10N unknown Het
Grm5 T C 7: 88,130,796 L1148P probably damaging Het
Kmt2e T A 5: 23,499,291 L1161I probably damaging Het
Megf9 C T 4: 70,488,150 V260I probably benign Het
Mme T A 3: 63,346,104 D456E probably benign Het
Mup8 T A 4: 60,221,950 E61V probably damaging Het
Olfml1 A G 7: 107,590,229 D167G probably damaging Het
Olfr615 T A 7: 103,560,912 M145K possibly damaging Het
Piezo2 T C 18: 63,021,308 K2467E probably damaging Het
Plscr1 T A 9: 92,266,870 F254L probably damaging Het
Prol1 A T 5: 88,328,520 K256N unknown Het
Rapgef4 A T 2: 72,195,703 L339F probably damaging Het
Slc27a2 T C 2: 126,564,750 I118T probably benign Het
Smim7 A T 8: 72,569,994 F19L possibly damaging Het
Svil T A 18: 5,056,150 L428* probably null Het
Tcof1 T C 18: 60,829,061 T699A possibly damaging Het
Thsd7b T A 1: 129,760,355 S668T possibly damaging Het
Tmprss7 T C 16: 45,680,748 D230G probably benign Het
Tyw1 A G 5: 130,299,993 D540G probably damaging Het
Zfp763 A G 17: 33,019,886 V95A probably damaging Het
Other mutations in Gm5930
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Gm5930 APN 14 44337630 missense probably benign 0.04
IGL02536:Gm5930 APN 14 44337558 missense probably damaging 1.00
PIT4696001:Gm5930 UTSW 14 44336536 missense probably damaging 1.00
R2219:Gm5930 UTSW 14 44336536 missense probably damaging 1.00
R2355:Gm5930 UTSW 14 44336461 missense probably damaging 0.99
R5466:Gm5930 UTSW 14 44337557 missense probably damaging 1.00
R5592:Gm5930 UTSW 14 44331429 missense probably benign 0.01
R6505:Gm5930 UTSW 14 44331371 makesense probably null
R7292:Gm5930 UTSW 14 44336557 missense probably damaging 1.00
R7338:Gm5930 UTSW 14 44336457 missense probably damaging 1.00
R8232:Gm5930 UTSW 14 44335724 missense probably damaging 0.99
Posted On2016-08-02