Incidental Mutation 'IGL02545:Gna14'
ID297799
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: 0.087) question?
Stock #IGL02545
Quality Score
Status
Chromosome19
Chromosomal Location16435667-16610818 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 16533726 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 46 (S46R)
Ref Sequence ENSEMBL: ENSMUSP00000025602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025602]
Predicted Effect probably damaging
Transcript: ENSMUST00000025602
AA Change: S46R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025602
Gene: ENSMUSG00000024697
AA Change: S46R

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
4930523C07Rik T C 1: 160,075,424 L88P probably damaging Het
Adamtsl4 G A 3: 95,683,374 Q354* probably null Het
Aox3 A C 1: 58,183,486 D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 H340L probably damaging Het
Ccni G T 5: 93,187,777 F167L probably benign Het
Ctcf A G 8: 105,664,381 T207A probably benign Het
D930020B18Rik A G 10: 121,689,933 H580R possibly damaging Het
Dock3 A T 9: 107,062,072 L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 T202A probably benign Het
Gdi2 A G 13: 3,557,009 Y214C probably damaging Het
Hfm1 A G 5: 106,895,287 I627T probably damaging Het
Ighv1-19 G A 12: 114,708,739 A87V probably damaging Het
Itch G A 2: 155,172,586 probably null Het
Klrb1b T C 6: 128,820,309 Q72R possibly damaging Het
Lrpprc A G 17: 84,775,425 F144L probably benign Het
Lrrc7 A G 3: 158,185,374 probably benign Het
Ndufa11 T A 17: 56,721,338 F72L probably damaging Het
Neu1 T A 17: 34,931,501 V32E probably benign Het
Olfr181 T A 16: 58,926,470 I34F possibly damaging Het
Osmr T C 15: 6,823,579 K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 V340A possibly damaging Het
Pih1d3 A G 1: 31,223,096 D53G probably damaging Het
Plxna2 T A 1: 194,786,690 probably benign Het
Pou6f1 C T 15: 100,583,425 W210* probably null Het
Ppat A G 5: 76,915,232 Y511H probably damaging Het
Psme4 T G 11: 30,841,586 V1147G possibly damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sptb A G 12: 76,607,980 probably null Het
Tcl1b5 T A 12: 105,180,037 probably benign Het
Trim54 T A 5: 31,132,165 probably benign Het
Unc13c C T 9: 73,481,075 R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 M406K possibly damaging Het
Other mutations in Gna14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03331:Gna14 APN 19 16609468 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 On2015-04-16