Incidental Mutation 'IGL02545:Gna14'
ID 297799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gna14
Ensembl Gene ENSMUSG00000024697
Gene Name guanine nucleotide binding protein, alpha 14
Synonyms G alpha 14
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL02545
Quality Score
Status
Chromosome 19
Chromosomal Location 16413126-16588184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16511090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 46 (S46R)
Ref Sequence ENSEMBL: ENSMUSP00000025602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025602]
AlphaFold P30677
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: 159,902,994 (GRCm39) L88P probably damaging Het
Adamtsl4 G A 3: 95,590,684 (GRCm39) Q354* probably null Het
Aox3 A C 1: 58,222,645 (GRCm39) D1146A probably damaging Het
Ap2a1 T A 7: 44,555,850 (GRCm39) H340L probably damaging Het
Ccni G T 5: 93,335,636 (GRCm39) F167L probably benign Het
Ctcf A G 8: 106,391,013 (GRCm39) T207A probably benign Het
D930020B18Rik A G 10: 121,525,838 (GRCm39) H580R possibly damaging Het
Dnaaf6rt A G 1: 31,262,177 (GRCm39) D53G probably damaging Het
Dock3 A T 9: 106,939,271 (GRCm39) L159Q probably damaging Het
Dync1i2 T C 2: 71,093,095 (GRCm39) I630T possibly damaging Het
Fchsd2 A G 7: 100,847,715 (GRCm39) T202A probably benign Het
Gdi2 A G 13: 3,607,009 (GRCm39) Y214C probably damaging Het
Hfm1 A G 5: 107,043,153 (GRCm39) I627T probably damaging Het
Ighv1-19 G A 12: 114,672,359 (GRCm39) A87V probably damaging Het
Itch G A 2: 155,014,506 (GRCm39) probably null Het
Klrb1b T C 6: 128,797,272 (GRCm39) Q72R possibly damaging Het
Lrpprc A G 17: 85,082,853 (GRCm39) F144L probably benign Het
Lrrc7 A G 3: 157,891,011 (GRCm39) probably benign Het
Ndufa11 T A 17: 57,028,338 (GRCm39) F72L probably damaging Het
Neu1 T A 17: 35,150,477 (GRCm39) V32E probably benign Het
Or5k17 T A 16: 58,746,833 (GRCm39) I34F possibly damaging Het
Osmr T C 15: 6,853,060 (GRCm39) K611E probably damaging Het
Pcdh20 A G 14: 88,706,280 (GRCm39) V340A possibly damaging Het
Plxna2 T A 1: 194,468,998 (GRCm39) probably benign Het
Pou6f1 C T 15: 100,481,306 (GRCm39) W210* probably null Het
Ppat A G 5: 77,063,079 (GRCm39) Y511H probably damaging Het
Psme4 T G 11: 30,791,586 (GRCm39) V1147G possibly damaging Het
Scap C T 9: 110,207,758 (GRCm39) T489I probably benign Het
Sptb A G 12: 76,654,754 (GRCm39) probably null Het
Tcl1b5 T A 12: 105,146,296 (GRCm39) probably benign Het
Trim54 T A 5: 31,289,509 (GRCm39) probably benign Het
Unc13c C T 9: 73,388,357 (GRCm39) R2143Q probably damaging Het
Vmn1r56 A T 7: 5,199,113 (GRCm39) V168D probably benign Het
Vmn2r66 A T 7: 84,655,798 (GRCm39) M406K possibly damaging Het
Other mutations in Gna14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03331:Gna14 APN 19 16,586,832 (GRCm39) missense probably damaging 1.00
R0563:Gna14 UTSW 19 16,585,483 (GRCm39) missense probably benign 0.04
R1479:Gna14 UTSW 19 16,511,133 (GRCm39) missense possibly damaging 0.50
R2058:Gna14 UTSW 19 16,585,505 (GRCm39) splice site probably benign
R3016:Gna14 UTSW 19 16,580,746 (GRCm39) missense probably benign 0.00
R4607:Gna14 UTSW 19 16,511,075 (GRCm39) critical splice acceptor site probably null
R4703:Gna14 UTSW 19 16,576,344 (GRCm39) missense possibly damaging 0.95
R4948:Gna14 UTSW 19 16,580,656 (GRCm39) missense probably benign 0.00
R5027:Gna14 UTSW 19 16,580,636 (GRCm39) missense probably benign 0.03
R5512:Gna14 UTSW 19 16,585,492 (GRCm39) missense probably benign 0.07
R5629:Gna14 UTSW 19 16,414,097 (GRCm39) missense possibly damaging 0.71
R5895:Gna14 UTSW 19 16,580,692 (GRCm39) missense possibly damaging 0.92
R6108:Gna14 UTSW 19 16,580,707 (GRCm39) missense probably damaging 0.98
R7037:Gna14 UTSW 19 16,511,128 (GRCm39) missense
R7310:Gna14 UTSW 19 16,511,113 (GRCm39) missense
R7403:Gna14 UTSW 19 16,576,445 (GRCm39) missense
R8155:Gna14 UTSW 19 16,576,338 (GRCm39) missense probably benign 0.02
R8750:Gna14 UTSW 19 16,585,458 (GRCm39) missense
R9687:Gna14 UTSW 19 16,582,350 (GRCm39) missense
R9752:Gna14 UTSW 19 16,586,781 (GRCm39) missense probably benign
Posted On 2015-04-16