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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |