Incidental Mutation 'R5365:Ywhaq'
| ID |
423094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ywhaq
|
| Ensembl Gene |
ENSMUSG00000076432 |
| Gene Name |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta |
| Synonyms |
14-3-3 tau, 14-3-3 theta, 2700028P07Rik |
| MMRRC Submission |
042943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R5365 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
21440330-21467437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21446389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 159
(E159G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049531]
[ENSMUST00000103002]
[ENSMUST00000135088]
[ENSMUST00000155480]
|
| AlphaFold |
P68254 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049531
AA Change: E159G
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106602
Gene: ENSMUSG00000076432
AA Change: E159G
| Domain | Start | End | E-Value | Type |
|---|
|
14_3_3
|
3 |
242 |
6.88e-137 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103002
AA Change: E159G
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100067
Gene: ENSMUSG00000076432
AA Change: E159G
| Domain | Start | End | E-Value | Type |
|---|
|
14_3_3
|
3 |
242 |
6.88e-137 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135088
AA Change: E159G
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123605
Gene: ENSMUSG00000076432
AA Change: E159G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
14_3_3
|
61 |
300 |
6.88e-137 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146206
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155480
AA Change: E159G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117118
Gene: ENSMUSG00000076432
AA Change: E159G
| Domain | Start | End | E-Value | Type |
|---|
|
14_3_3
|
3 |
237 |
1.41e-124 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Embryos homozygous for a gene trap allele are developmentally delayed and die by E14 with no specific cardiac defects; however, heterozygotes develop larger myocardial infarctions with increased post-infarction cardiac remodeling while cultured cardiomyocytes are sensitized to proapoptotic stimuli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,578,629 (GRCm39) |
E4877G |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,840,589 (GRCm39) |
A391T |
probably damaging |
Het |
| Bcan |
T |
C |
3: 87,896,542 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,329,666 (GRCm39) |
|
probably benign |
Het |
| Bpnt2 |
G |
A |
4: 4,776,385 (GRCm39) |
T190I |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,134,888 (GRCm39) |
V105A |
possibly damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,493,473 (GRCm39) |
Y832C |
probably damaging |
Het |
| Ces2e |
T |
C |
8: 105,653,846 (GRCm39) |
|
probably null |
Het |
| Cpt1b |
A |
T |
15: 89,304,310 (GRCm39) |
I480N |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,868,145 (GRCm39) |
T792A |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,185,632 (GRCm39) |
I170F |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,138,457 (GRCm39) |
S772P |
probably damaging |
Het |
| Cyp3a16 |
A |
C |
5: 145,389,597 (GRCm39) |
M256R |
probably damaging |
Het |
| Dgkd |
C |
T |
1: 87,863,138 (GRCm39) |
R62C |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,408,223 (GRCm39) |
L67P |
probably damaging |
Het |
| Gpc2 |
A |
G |
5: 138,273,885 (GRCm39) |
Y438H |
probably damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,433 (GRCm39) |
S116P |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,904,522 (GRCm39) |
I332V |
probably damaging |
Het |
| Lrit1 |
A |
G |
14: 36,784,099 (GRCm39) |
T476A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,537,137 (GRCm39) |
H50R |
possibly damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,258 (GRCm39) |
V178A |
possibly damaging |
Het |
| Mbtps2 |
G |
A |
X: 156,351,295 (GRCm39) |
T157M |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mill2 |
T |
C |
7: 18,592,339 (GRCm39) |
V320A |
probably benign |
Het |
| Mtor |
G |
A |
4: 148,634,587 (GRCm39) |
V2403M |
probably damaging |
Het |
| Nectin3 |
T |
A |
16: 46,284,469 (GRCm39) |
K71* |
probably null |
Het |
| Or2g25 |
T |
A |
17: 37,970,586 (GRCm39) |
I213F |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,539,144 (GRCm39) |
Y1090C |
probably damaging |
Het |
| Pigf |
A |
T |
17: 87,331,136 (GRCm39) |
V62E |
possibly damaging |
Het |
| Pla1a |
A |
G |
16: 38,237,569 (GRCm39) |
L43P |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sbno1 |
TCCC |
TCC |
5: 124,519,929 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
C |
9: 122,895,866 (GRCm39) |
K223N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,744,990 (GRCm39) |
A5353E |
probably damaging |
Het |
| Zdhhc12 |
A |
G |
2: 29,983,521 (GRCm39) |
V27A |
probably damaging |
Het |
|
| Other mutations in Ywhaq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02893:Ywhaq
|
APN |
12 |
21,446,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Ywhaq
|
APN |
12 |
21,445,001 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0423:Ywhaq
|
UTSW |
12 |
21,441,382 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1172:Ywhaq
|
UTSW |
12 |
21,445,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4821:Ywhaq
|
UTSW |
12 |
21,467,512 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6959:Ywhaq
|
UTSW |
12 |
21,446,281 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7022:Ywhaq
|
UTSW |
12 |
21,441,752 (GRCm39) |
intron |
probably benign |
|
|
R7183:Ywhaq
|
UTSW |
12 |
21,466,870 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7320:Ywhaq
|
UTSW |
12 |
21,444,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATGAAAATGGCCTCCCTTG -3'
(R):5'- TAAGTATACTGGAGCTGTGGTGATC -3'
Sequencing Primer
(F):5'- GAAAATGGCCTCCCTTGAGCATC -3'
(R):5'- CTGTGGTGATCAGAATGACTCATAGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation