Incidental Mutation 'IGL03331:Gna14'
ID416870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gna14
Ensembl Gene ENSMUSG00000024697
Gene Nameguanine nucleotide binding protein, alpha 14
SynonymsG alpha 14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL03331
Quality Score
Status
Chromosome19
Chromosomal Location16435667-16610818 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 16609468 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 336 (V336M)
Ref Sequence ENSEMBL: ENSMUSP00000025602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025602]
Predicted Effect probably damaging
Transcript: ENSMUST00000025602
AA Change: V336M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025602
Gene: ENSMUSG00000024697
AA Change: V336M

DomainStartEndE-ValueType
G_alpha 15 354 9.68e-201 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,513,865 D361Y probably damaging Het
Arhgap10 T C 8: 77,420,082 N231S probably damaging Het
Asb15 A T 6: 24,556,524 D6V possibly damaging Het
C1qb G A 4: 136,880,293 A253V probably damaging Het
Ccdc178 G T 18: 21,811,583 probably null Het
Chst15 A G 7: 132,262,713 L387P probably damaging Het
Clca3b T A 3: 144,827,963 E550D probably benign Het
Dnah5 A G 15: 28,419,940 K3795E probably damaging Het
Dppa2 T C 16: 48,313,879 probably benign Het
Epb41l5 T C 1: 119,617,419 Y220C probably damaging Het
Fkbpl C T 17: 34,645,687 T143I probably damaging Het
Gbe1 T G 16: 70,433,578 Y155D probably damaging Het
Gm1979 T C 5: 26,002,010 K69R probably damaging Het
Gpr37 A G 6: 25,669,729 V372A probably benign Het
Herc2 C A 7: 56,135,267 probably benign Het
Hist1h2bk T C 13: 22,036,273 probably benign Het
Krt20 T C 11: 99,435,430 probably null Het
Lman1 T C 18: 65,993,204 T284A probably benign Het
Matn2 A T 15: 34,345,357 D170V probably damaging Het
Morc1 C A 16: 48,612,368 probably benign Het
Necap1 T A 6: 122,880,417 S34T probably benign Het
Nt5c3b T C 11: 100,436,215 Y85C probably damaging Het
Olfr1454 T A 19: 13,063,867 L152H probably damaging Het
Olfr720 C A 14: 14,176,017 A22S probably benign Het
Papln A G 12: 83,783,661 M1016V probably benign Het
Pld1 T C 3: 28,085,845 F605L probably damaging Het
Rbms2 T A 10: 128,133,635 probably benign Het
Rps6kb1 A T 11: 86,532,830 V108E probably damaging Het
Scap T C 9: 110,380,236 probably null Het
Serpina1f T C 12: 103,690,891 I307M probably benign Het
Tchh A G 3: 93,443,418 D55G probably damaging Het
Tnfaip3 G T 10: 19,011,601 Q59K possibly damaging Het
Vcan A G 13: 89,661,932 C2287R probably damaging Het
Vmn2r6 T C 3: 64,538,007 N766D probably damaging Het
Other mutations in Gna14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02545:Gna14 APN 19 16533726 missense probably damaging 1.00
R0563:Gna14 UTSW 19 16608119 missense probably benign 0.04
R1479:Gna14 UTSW 19 16533769 missense possibly damaging 0.50
R2058:Gna14 UTSW 19 16608141 splice site probably benign
R3016:Gna14 UTSW 19 16603382 missense probably benign 0.00
R4607:Gna14 UTSW 19 16533711 critical splice acceptor site probably null
R4703:Gna14 UTSW 19 16598980 missense possibly damaging 0.95
R4948:Gna14 UTSW 19 16603292 missense probably benign 0.00
R5027:Gna14 UTSW 19 16603272 missense probably benign 0.03
R5512:Gna14 UTSW 19 16608128 missense probably benign 0.07
R5629:Gna14 UTSW 19 16436733 missense possibly damaging 0.71
R5895:Gna14 UTSW 19 16603328 missense possibly damaging 0.92
R6108:Gna14 UTSW 19 16603343 missense probably damaging 0.98
R7037:Gna14 UTSW 19 16533764 missense
R7310:Gna14 UTSW 19 16533749 missense
R7403:Gna14 UTSW 19 16599081 missense
Posted On2016-08-02