Incidental Mutation 'R6407:Yap1'
ID |
514498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yap1
|
Ensembl Gene |
ENSMUSG00000053110 |
Gene Name |
yes-associated protein 1 |
Synonyms |
yorkie, Yki, Yap |
MMRRC Submission |
044552-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6407 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
7932000-8004597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7962373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 225
(M225T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065353]
[ENSMUST00000086580]
[ENSMUST00000173085]
[ENSMUST00000173264]
[ENSMUST00000174577]
|
AlphaFold |
P46938 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065353
AA Change: M225T
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000069554 Gene: ENSMUSG00000053110 AA Change: M225T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
35 |
N/A |
INTRINSIC |
PDB:3KYS|D
|
36 |
156 |
4e-68 |
PDB |
WW
|
157 |
189 |
5.63e-12 |
SMART |
WW
|
216 |
248 |
8.66e-13 |
SMART |
coiled coil region
|
283 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086580
AA Change: M225T
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000083772 Gene: ENSMUSG00000053110 AA Change: M225T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
35 |
N/A |
INTRINSIC |
PDB:3KYS|D
|
36 |
156 |
3e-68 |
PDB |
WW
|
157 |
189 |
5.63e-12 |
SMART |
WW
|
216 |
248 |
8.66e-13 |
SMART |
coiled coil region
|
283 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173085
AA Change: M225T
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000134007 Gene: ENSMUSG00000053110 AA Change: M225T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
35 |
N/A |
INTRINSIC |
PDB:3KYS|D
|
36 |
156 |
2e-69 |
PDB |
WW
|
157 |
189 |
5.63e-12 |
SMART |
WW
|
216 |
248 |
8.66e-13 |
SMART |
coiled coil region
|
283 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173264
AA Change: M225T
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000134237 Gene: ENSMUSG00000053110 AA Change: M225T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
35 |
N/A |
INTRINSIC |
PDB:3KYS|D
|
36 |
156 |
3e-69 |
PDB |
WW
|
157 |
189 |
5.63e-12 |
SMART |
WW
|
216 |
248 |
8.66e-13 |
SMART |
coiled coil region
|
283 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174127
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174577
AA Change: M225T
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000133959 Gene: ENSMUSG00000053110 AA Change: M225T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
35 |
N/A |
INTRINSIC |
PDB:3KYS|D
|
36 |
156 |
2e-69 |
PDB |
WW
|
157 |
189 |
5.63e-12 |
SMART |
WW
|
216 |
248 |
8.66e-13 |
SMART |
coiled coil region
|
283 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000174604
AA Change: M131T
|
SMART Domains |
Protein: ENSMUSP00000134250 Gene: ENSMUSG00000053110 AA Change: M131T
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
49 |
N/A |
INTRINSIC |
WW
|
64 |
96 |
5.63e-12 |
SMART |
WW
|
123 |
155 |
8.66e-13 |
SMART |
coiled coil region
|
191 |
224 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174760
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
100% (36/36) |
MGI Phenotype |
FUNCTION: This gene encodes a protein which binds to the SH3 domain of the Yes proto-oncogene product, a tyrosine kinase. This protein contains a WW domain, consisting of four conserved aromatic amino acids including two tryptophan residues. This conserved WW domain is found in various structural, regulatory and signaling molecules in various species, and may play a role in protein-protein interaction. Following cellular damage, phosphorylation of this encoded protein may suppress apoptosis. This protein may be involved in malignant transformation in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] PHENOTYPE: Embryos homozygous for a null mutation of this gene die between embryonic days E9.5 and E10.5 due to yolk sac avasculogenesis and failure of attachment between the allantois and the chorion. Heterozygous mice are viable, appear normal and are fertile. [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 |
Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
probably damaging |
Het |
|
Other mutations in Yap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01402:Yap1
|
APN |
9 |
7,934,742 (GRCm39) |
splice site |
probably benign |
|
IGL01404:Yap1
|
APN |
9 |
7,934,742 (GRCm39) |
splice site |
probably benign |
|
IGL02338:Yap1
|
APN |
9 |
7,962,282 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02398:Yap1
|
APN |
9 |
7,950,536 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02793:Yap1
|
APN |
9 |
7,973,907 (GRCm39) |
missense |
probably benign |
0.44 |
Puddel_hunde
|
UTSW |
9 |
8,004,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R0410:Yap1
|
UTSW |
9 |
8,001,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R1507:Yap1
|
UTSW |
9 |
7,953,141 (GRCm39) |
splice site |
probably benign |
|
R1837:Yap1
|
UTSW |
9 |
7,962,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R3968:Yap1
|
UTSW |
9 |
7,973,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R3978:Yap1
|
UTSW |
9 |
8,004,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R4111:Yap1
|
UTSW |
9 |
7,938,432 (GRCm39) |
makesense |
probably null |
|
R4113:Yap1
|
UTSW |
9 |
7,938,432 (GRCm39) |
makesense |
probably null |
|
R4573:Yap1
|
UTSW |
9 |
7,934,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R5028:Yap1
|
UTSW |
9 |
8,001,690 (GRCm39) |
missense |
probably benign |
0.05 |
R6397:Yap1
|
UTSW |
9 |
8,001,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R7743:Yap1
|
UTSW |
9 |
7,962,379 (GRCm39) |
missense |
probably benign |
0.04 |
X0020:Yap1
|
UTSW |
9 |
7,938,436 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTTGGGTATACAGCATTTGC -3'
(R):5'- TAATCAGTTAGGTGGCCCTGC -3'
Sequencing Primer
(F):5'- GCTACTAAAGGTGTTGCAGATTC -3'
(R):5'- GCCTTATTTTCTCTTACATAGGCTG -3'
|
Posted On |
2018-05-04 |