Incidental Mutation 'IGL03331:Gna14'
| ID |
416870 |
| 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 # |
IGL03331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
16413126-16588184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 16586832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 336
(V336M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025602]
|
| AlphaFold |
P30677 |
| 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
| 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 |
|---|
| Akap11 |
C |
A |
14: 78,751,305 (GRCm39) |
D361Y |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,146,711 (GRCm39) |
N231S |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,556,523 (GRCm39) |
D6V |
possibly damaging |
Het |
| C1qb |
G |
A |
4: 136,607,604 (GRCm39) |
A253V |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 21,944,640 (GRCm39) |
|
probably null |
Het |
| Chst15 |
A |
G |
7: 131,864,442 (GRCm39) |
L387P |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,533,724 (GRCm39) |
E550D |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,420,086 (GRCm39) |
K3795E |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,134,242 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,545,149 (GRCm39) |
Y220C |
probably damaging |
Het |
| Fkbpl |
C |
T |
17: 34,864,661 (GRCm39) |
T143I |
probably damaging |
Het |
| Gbe1 |
T |
G |
16: 70,230,466 (GRCm39) |
Y155D |
probably damaging |
Het |
| Gm1979 |
T |
C |
5: 26,207,008 (GRCm39) |
K69R |
probably damaging |
Het |
| Gpr37 |
A |
G |
6: 25,669,728 (GRCm39) |
V372A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,220,443 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,785,015 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,326,256 (GRCm39) |
|
probably null |
Het |
| Lman1 |
T |
C |
18: 66,126,275 (GRCm39) |
T284A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,345,503 (GRCm39) |
D170V |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,432,731 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
T |
A |
6: 122,857,376 (GRCm39) |
S34T |
probably benign |
Het |
| Nt5c3b |
T |
C |
11: 100,327,041 (GRCm39) |
Y85C |
probably damaging |
Het |
| Or2t6 |
C |
A |
14: 14,176,017 (GRCm38) |
A22S |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,231 (GRCm39) |
L152H |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,830,435 (GRCm39) |
M1016V |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,139,994 (GRCm39) |
F605L |
probably damaging |
Het |
| Rbms2 |
T |
A |
10: 127,969,504 (GRCm39) |
|
probably benign |
Het |
| Rps6kb1 |
A |
T |
11: 86,423,656 (GRCm39) |
V108E |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,209,304 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
C |
12: 103,657,150 (GRCm39) |
I307M |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,350,725 (GRCm39) |
D55G |
probably damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,887,349 (GRCm39) |
Q59K |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,810,051 (GRCm39) |
C2287R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,428 (GRCm39) |
N766D |
probably damaging |
Het |
|
| Other mutations in Gna14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02545:Gna14
|
APN |
19 |
16,511,090 (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 |
2016-08-02 |
Incidental Mutation