Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Yap1'

311130

Institutional Source

Beutler Lab

Gene Symbol

Yap1

Ensembl Gene

ENSMUSG00000053110

Gene Name

yes-associated protein 1

Synonyms

yorkie, Yki, Yap

MMRRC Submission

040941-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3978 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

7932000-8004597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8004285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 36 (G36D)

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: G36D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069554
Gene: ENSMUSG00000053110
AA Change: G36D

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: G36D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083772
Gene: ENSMUSG00000053110
AA Change: G36D

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: G36D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134007
Gene: ENSMUSG00000053110
AA Change: G36D

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: G36D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134237
Gene: ENSMUSG00000053110
AA Change: G36D

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: ENSMUST00000174300

Predicted Effect

probably damaging
Transcript: ENSMUST00000174577
AA Change: G36D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133959
Gene: ENSMUSG00000053110
AA Change: G36D

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: ENSMUST00000211167

Predicted Effect

probably benign
Transcript: ENSMUST00000174604

SMART Domains

Protein: ENSMUSP00000134250
Gene: ENSMUSG00000053110

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,435 (GRCm39)	T61A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Ano5	G	A	7: 51,237,554 (GRCm39)	V743I	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arid2	A	G	15: 96,261,503 (GRCm39)	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,832,795 (GRCm39)		probably null	Het
Azin1	A	T	15: 38,498,957 (GRCm39)	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,798,274 (GRCm39)	T1662A	probably benign	Het
Cog8	T	A	8: 107,779,669 (GRCm39)	I203F	probably damaging	Het
Col6a6	T	C	9: 105,576,078 (GRCm39)	H2094R	probably damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,690,737 (GRCm39)		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Eif3i	T	C	4: 129,486,129 (GRCm39)	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,226,072 (GRCm39)	M402L	probably benign	Het
Fga	A	T	3: 82,937,490 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,197,207 (GRCm39)		probably benign	Het
Gbp2	C	T	3: 142,335,747 (GRCm39)	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,834,394 (GRCm39)	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,407,862 (GRCm39)	T136I	probably benign	Het
Gprc5b	C	T	7: 118,583,354 (GRCm39)	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hdlbp	T	C	1: 93,349,073 (GRCm39)	I535V	probably damaging	Het
Helb	A	G	10: 119,925,530 (GRCm39)	V949A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il27ra	G	A	8: 84,767,313 (GRCm39)	T170I	probably benign	Het
Insm2	T	C	12: 55,647,623 (GRCm39)	Y456H	probably benign	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Lin9	T	A	1: 180,496,357 (GRCm39)	I298N	possibly damaging	Het
Lyst	G	A	13: 13,808,753 (GRCm39)	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or5p61	A	G	7: 107,758,819 (GRCm39)	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,206,757 (GRCm39)	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,242,253 (GRCm39)	I13T	probably benign	Het
Psmd1	T	C	1: 86,055,909 (GRCm39)	M757T	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,522,393 (GRCm39)	T296A	possibly damaging	Het
Rgl2	G	A	17: 34,154,136 (GRCm39)	R472H	probably benign	Het
Rhcg	T	C	7: 79,267,147 (GRCm39)	E43G	probably benign	Het
Rif1	T	A	2: 52,006,759 (GRCm39)		probably null	Het
Rorb	A	G	19: 18,915,254 (GRCm39)	V468A	probably benign	Het
Rxrb	C	T	17: 34,255,300 (GRCm39)	P209L	possibly damaging	Het
Sbf2	G	T	7: 109,929,092 (GRCm39)	T1438K	probably benign	Het
Setd3	A	T	12: 108,124,201 (GRCm39)	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,727,239 (GRCm39)	D110N	probably benign	Het
Slc26a3	T	A	12: 31,515,859 (GRCm39)		probably null	Het
Slc5a5	A	G	8: 71,342,039 (GRCm39)	V305A	probably benign	Het
Slc6a6	A	T	6: 91,732,033 (GRCm39)	M621L	probably benign	Het
Smgc	A	T	15: 91,744,546 (GRCm39)	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Syt15	T	A	14: 33,945,061 (GRCm39)	C203S	probably benign	Het
Tdrd1	A	G	19: 56,855,066 (GRCm39)	R1171G	probably benign	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Tspan9	A	G	6: 127,944,210 (GRCm39)	V30A	probably damaging	Het
Ubp1	A	T	9: 113,785,773 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,881,670 (GRCm39)	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	Het
Wee1	G	T	7: 109,723,762 (GRCm39)	D226Y	probably damaging	Het
Zmym6	T	C	4: 127,017,348 (GRCm39)	I951T	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
R3968:Yap1	UTSW	9	7,973,877 (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'- ATACCCTTACCTGTCGCGAGTG -3'
(R):5'- CAAAGTTTCTGTCTCAGTTGGGAC -3'

Sequencing Primer
(F):5'- CGAGTGGGACTTGGGCTCAG -3'
(R):5'- TCTCAGTTGGGACGCCGC -3'

Posted On

2015-04-29