Incidental Mutation 'R3016:Gna14'
| ID |
265723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gna14
|
| Ensembl Gene |
ENSMUSG00000024697 |
| Gene Name |
guanine nucleotide binding protein, alpha 14 |
| Synonyms |
G alpha 14 |
| MMRRC Submission |
040537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R3016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
16413126-16588184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16580746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 195
(I195F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025602]
|
| AlphaFold |
P30677 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025602
AA Change: I195F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000025602
Gene: ENSMUSG00000024697
AA Change: I195F
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
15 |
354 |
9.68e-201 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,790,048 (GRCm39) |
D74G |
probably benign |
Het |
| Alkbh8 |
G |
T |
9: 3,369,658 (GRCm39) |
S309I |
probably benign |
Het |
| Asgr2 |
A |
T |
11: 69,996,235 (GRCm39) |
I226F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,833,208 (GRCm39) |
E1690G |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,513,687 (GRCm39) |
V71A |
probably benign |
Het |
| Foxo3 |
G |
T |
10: 42,073,352 (GRCm39) |
D388E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,869,839 (GRCm39) |
D1463G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,009,466 (GRCm39) |
*228R |
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lag3 |
A |
G |
6: 124,885,429 (GRCm39) |
V317A |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or2aj4 |
A |
G |
16: 19,385,141 (GRCm39) |
L164P |
probably damaging |
Het |
| Or8g53 |
A |
T |
9: 39,683,979 (GRCm39) |
V39E |
probably benign |
Het |
| Padi3 |
G |
T |
4: 140,513,898 (GRCm39) |
F593L |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,232,766 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
G |
A |
18: 63,175,903 (GRCm39) |
T1826I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,408,766 (GRCm39) |
A2418T |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,268,836 (GRCm39) |
M111T |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,193,200 (GRCm39) |
S1901P |
possibly damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,597,405 (GRCm39) |
R588Q |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,792,069 (GRCm39) |
F59L |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,531,757 (GRCm39) |
D431G |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAAGGCAGGATATTTTCC -3'
(R):5'- CAGGAGTGCTCATCTACGTGAC -3'
Sequencing Primer
(F):5'- CCTTCTCAAAATGGAGCCTCGG -3'
(R):5'- GGAGTGCTCATCTACGTGACTACAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation