Incidental Mutation 'R3968:Yap1'
| ID |
312441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yap1
|
| Ensembl Gene |
ENSMUSG00000053110 |
| Gene Name |
yes-associated protein 1 |
| Synonyms |
yorkie, Yki, Yap |
| MMRRC Submission |
040936-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3968 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7932000-8004597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7973877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 188
(R188Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065353]
[ENSMUST00000086580]
[ENSMUST00000173085]
[ENSMUST00000173264]
[ENSMUST00000174577]
|
| AlphaFold |
P46938 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065353
AA Change: R188Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069554
Gene: ENSMUSG00000053110
AA Change: R188Q
| 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 |
probably damaging
Transcript: ENSMUST00000086580
AA Change: R188Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083772
Gene: ENSMUSG00000053110
AA Change: R188Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000172870
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173085
AA Change: R188Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134007
Gene: ENSMUSG00000053110
AA Change: R188Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000173227
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173264
AA Change: R188Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134237
Gene: ENSMUSG00000053110
AA Change: R188Q
| 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 |
probably damaging
Transcript: ENSMUST00000174577
AA Change: R188Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133959
Gene: ENSMUSG00000053110
AA Change: R188Q
| 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: R94Q
|
| SMART Domains |
Protein: ENSMUSP00000134250
Gene: ENSMUSG00000053110
AA Change: R94Q
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
| Validation Efficiency |
98% (40/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
| Cela1 |
C |
T |
15: 100,582,534 (GRCm39) |
G93S |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cysltr2 |
A |
G |
14: 73,267,614 (GRCm39) |
I32T |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
| Fzd8 |
T |
C |
18: 9,214,070 (GRCm39) |
V384A |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| H2-M2 |
C |
T |
17: 37,792,197 (GRCm39) |
G318S |
possibly damaging |
Het |
| Il21r |
G |
T |
7: 125,227,215 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
C |
7: 127,712,205 (GRCm39) |
Y697H |
probably damaging |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Net1 |
A |
G |
13: 3,957,795 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Oard1 |
T |
C |
17: 48,722,282 (GRCm39) |
Y93H |
probably damaging |
Het |
| Or4n5 |
A |
T |
14: 50,132,983 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,778,867 (GRCm39) |
L1825P |
probably damaging |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,742,382 (GRCm39) |
D1058E |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Sema3g |
T |
C |
14: 30,948,478 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
T |
C |
10: 76,877,680 (GRCm39) |
Y72H |
probably damaging |
Het |
| Sntb2 |
T |
A |
8: 107,723,772 (GRCm39) |
Y340* |
probably null |
Het |
| Srrm4 |
A |
G |
5: 116,582,803 (GRCm39) |
|
probably benign |
Het |
| Ssb |
C |
T |
2: 69,697,793 (GRCm39) |
|
probably benign |
Het |
| Sval2 |
T |
A |
6: 41,838,861 (GRCm39) |
V14E |
probably damaging |
Het |
| Tmc2 |
T |
G |
2: 130,043,991 (GRCm39) |
V75G |
probably benign |
Het |
| Tnnc2 |
T |
C |
2: 164,619,457 (GRCm39) |
E129G |
possibly damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly 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 |
|
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 |
|
R6407:Yap1
|
UTSW |
9 |
7,962,373 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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'- TCAGTCTCCTCAATGGATTAAGAC -3'
(R):5'- CAGTGGTAAAGCACTCAGACATC -3'
Sequencing Primer
(F):5'- CTCCTCAATGGATTAAGACTAAATGC -3'
(R):5'- GTGGTAAAGCACTCAGACATCATACC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation