Incidental Mutation 'IGL02036:Ywhag'
| ID |
184513 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ywhag
|
| Ensembl Gene |
ENSMUSG00000051391 |
| Gene Name |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide |
| Synonyms |
D7Bwg1348e, 14-3-3 gamma |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02036
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135937263-135963470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135940348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 82
(V82A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055808]
[ENSMUST00000198270]
|
| AlphaFold |
P61982 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055808
AA Change: V82A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000051223
Gene: ENSMUSG00000051391
AA Change: V82A
| Domain | Start | End | E-Value | Type |
|---|
|
14_3_3
|
4 |
247 |
3.44e-137 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198270
AA Change: V82A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143631
Gene: ENSMUSG00000051391
AA Change: V82A
| Domain | Start | End | E-Value | Type |
|---|
|
14_3_3
|
4 |
247 |
3.44e-137 |
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 product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants appear normal and exhibit unchanged survival rates after inoculation with pathological prion protein. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cep290 |
T |
A |
10: 100,393,962 (GRCm39) |
C2056* |
probably null |
Het |
| Cyp2c38 |
T |
A |
19: 39,448,760 (GRCm39) |
D143V |
probably null |
Het |
| Ddx10 |
T |
C |
9: 53,115,483 (GRCm39) |
K617R |
probably benign |
Het |
| Dgat2l6 |
T |
A |
X: 99,589,199 (GRCm39) |
I336N |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,413,818 (GRCm39) |
I1906M |
probably benign |
Het |
| Dpep3 |
T |
G |
8: 106,700,417 (GRCm39) |
T430P |
probably benign |
Het |
| Dph1 |
T |
C |
11: 75,074,991 (GRCm39) |
|
probably null |
Het |
| Epha7 |
T |
C |
4: 28,950,509 (GRCm39) |
S775P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,010,571 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,950 (GRCm39) |
V290M |
possibly damaging |
Het |
| Hdx |
T |
A |
X: 110,569,564 (GRCm39) |
T342S |
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,416,650 (GRCm39) |
|
probably benign |
Het |
| Itgad |
A |
G |
7: 127,788,993 (GRCm39) |
T515A |
possibly damaging |
Het |
| Kcnc2 |
T |
A |
10: 112,291,831 (GRCm39) |
S340T |
possibly damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,576 (GRCm39) |
T830I |
possibly damaging |
Het |
| Lrch1 |
G |
A |
14: 75,032,733 (GRCm39) |
|
probably benign |
Het |
| Mag |
C |
T |
7: 30,607,877 (GRCm39) |
V295M |
probably damaging |
Het |
| Mmp16 |
T |
A |
4: 18,093,371 (GRCm39) |
D375E |
probably benign |
Het |
| Or2h2 |
A |
G |
17: 37,396,559 (GRCm39) |
F166S |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,923 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or4c111 |
A |
G |
2: 88,843,823 (GRCm39) |
V195A |
probably benign |
Het |
| Pcyox1l |
T |
C |
18: 61,840,607 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
A |
G |
2: 125,600,127 (GRCm39) |
S403P |
probably benign |
Het |
| Sh3tc2 |
T |
A |
18: 62,147,978 (GRCm39) |
H1229Q |
probably benign |
Het |
| Svep1 |
A |
C |
4: 58,088,245 (GRCm39) |
W1735G |
possibly damaging |
Het |
| Tbxas1 |
T |
A |
6: 38,998,091 (GRCm39) |
C220S |
probably benign |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
|
| Other mutations in Ywhag |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03200:Ywhag
|
APN |
5 |
135,939,914 (GRCm39) |
nonsense |
probably null |
|
|
IGL03206:Ywhag
|
APN |
5 |
135,939,914 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Ywhag
|
UTSW |
5 |
135,940,153 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0047:Ywhag
|
UTSW |
5 |
135,940,153 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1834:Ywhag
|
UTSW |
5 |
135,940,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5425:Ywhag
|
UTSW |
5 |
135,940,119 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5974:Ywhag
|
UTSW |
5 |
135,940,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Ywhag
|
UTSW |
5 |
135,939,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Ywhag
|
UTSW |
5 |
135,940,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7827:Ywhag
|
UTSW |
5 |
135,940,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Ywhag
|
UTSW |
5 |
135,939,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9013:Ywhag
|
UTSW |
5 |
135,940,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation