Mutagenetix > Incidental Mutation

Incidental Mutation 'R4573:Yap1'

342274

Institutional Source

Beutler Lab

Gene Symbol

Yap1

Ensembl Gene

ENSMUSG00000053110

Gene Name

yes-associated protein 1

Synonyms

yorkie, Yki, Yap

MMRRC Submission

041598-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4573 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7932000-8004597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7934682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 428 (D428G)

Ref Sequence

ENSEMBL: ENSMUSP00000069554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065353] [ENSMUST00000086580] [ENSMUST00000173085] [ENSMUST00000173264] [ENSMUST00000174577]

AlphaFold

P46938

PDB Structure

Structural basis of YAP recognition by TEAD4 in the Hippo pathway [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065353
AA Change: D428G

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

SMART Domains

Protein: ENSMUSP00000069554
Gene: ENSMUSG00000053110
AA Change: D428G

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: D412G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083772
Gene: ENSMUSG00000053110
AA Change: D412G

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

SMART Domains

Protein: ENSMUSP00000134007
Gene: ENSMUSG00000053110

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

SMART Domains

Protein: ENSMUSP00000134237
Gene: ENSMUSG00000053110

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 benign
Transcript: ENSMUST00000174577

SMART Domains

Protein: ENSMUSP00000133959
Gene: ENSMUSG00000053110

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: D336G

SMART Domains

Protein: ENSMUSP00000134250
Gene: ENSMUSG00000053110
AA Change: D336G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,253,293 (GRCm39)	E212G	probably damaging	Het
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Akr1b10	T	C	6: 34,369,064 (GRCm39)	V153A	probably damaging	Het
Ap1m2	T	C	9: 21,217,054 (GRCm39)	Y94C	probably damaging	Het
Arhgef33	T	C	17: 80,672,711 (GRCm39)	S320P	probably damaging	Het
Arsg	T	C	11: 109,408,108 (GRCm39)	S87P	probably damaging	Het
Asic3	A	G	5: 24,622,190 (GRCm39)	Y458C	probably damaging	Het
Aspm	G	T	1: 139,407,245 (GRCm39)	W2044L	probably damaging	Het
Atad2b	T	C	12: 5,004,663 (GRCm39)		probably null	Het
Atp1a2	T	C	1: 172,106,204 (GRCm39)	I869M	possibly damaging	Het
Bpifb2	C	T	2: 153,731,412 (GRCm39)	L263F	probably damaging	Het
C1s2	T	C	6: 124,605,202 (GRCm39)		probably null	Het
Carf	G	T	1: 60,187,271 (GRCm39)	A590S	probably benign	Het
Cbarp	G	T	10: 79,967,245 (GRCm39)	D658E	probably damaging	Het
Cd1d2	A	G	3: 86,894,861 (GRCm39)	I78V	probably benign	Het
Cdc42bpb	A	T	12: 111,289,575 (GRCm39)	M418K	probably benign	Het
Cdhr3	A	T	12: 33,118,152 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,354,712 (GRCm39)	K932R	probably benign	Het
Ces1d	A	C	8: 93,908,162 (GRCm39)	N310K	probably benign	Het
Chka	A	G	19: 3,935,960 (GRCm39)	K240R	probably damaging	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cyp4f37	A	G	17: 32,848,061 (GRCm39)	E193G	probably benign	Het
Dhrs9	C	A	2: 69,227,985 (GRCm39)	H200N	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Dnah8	T	C	17: 30,919,380 (GRCm39)	S1118P	probably benign	Het
Dyrk1a	A	G	16: 94,492,882 (GRCm39)	Y705C	possibly damaging	Het
Elmod1	T	C	9: 53,833,256 (GRCm39)	N183S	probably damaging	Het
Fer1l6	G	A	15: 58,498,129 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,816,510 (GRCm39)	Y4081F	possibly damaging	Het
Gsr	A	G	8: 34,183,881 (GRCm39)	D381G	probably benign	Het
Gucy1a1	A	G	3: 82,016,229 (GRCm39)	L253S	possibly damaging	Het
Herc3	C	A	6: 58,871,098 (GRCm39)	T69K	possibly damaging	Het
Hoxb13	A	G	11: 96,085,777 (GRCm39)	Y170C	probably damaging	Het
Hsd3b5	T	C	3: 98,526,964 (GRCm39)	M161V	probably benign	Het
Lrp6	G	A	6: 134,447,693 (GRCm39)	R985*	probably null	Het
Marchf5	T	A	19: 37,197,793 (GRCm39)	I154K	probably damaging	Het
Mcemp1	A	G	8: 3,715,835 (GRCm39)		probably null	Het
Mrpl2	G	T	17: 46,959,967 (GRCm39)	C212F	possibly damaging	Het
Mterf1a	G	A	5: 3,941,119 (GRCm39)	R250W	possibly damaging	Het
Mthfd1	A	G	12: 76,340,912 (GRCm39)		probably null	Het
Mul1	T	C	4: 138,163,660 (GRCm39)	F19L	probably benign	Het
Mycbp2	G	T	14: 103,583,733 (GRCm39)	A74E	probably benign	Het
Myo5a	A	T	9: 75,108,579 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,132,889 (GRCm39)	S33T	probably damaging	Het
Niban1	T	C	1: 151,579,517 (GRCm39)	V412A	possibly damaging	Het
Ninj1	A	G	13: 49,348,463 (GRCm39)	N191S	probably damaging	Het
Nrap	T	C	19: 56,330,770 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j21	T	A	2: 36,683,491 (GRCm39)	M81K	probably damaging	Het
Or1n1b	T	C	2: 36,780,202 (GRCm39)	I219M	probably damaging	Het
Osbpl5	C	A	7: 143,248,053 (GRCm39)	V671L	probably benign	Het
Paics	T	C	5: 77,104,450 (GRCm39)	L25S	probably benign	Het
Pcmtd1	A	G	1: 7,190,591 (GRCm39)	E20G	probably damaging	Het
Pgbd5	G	A	8: 125,102,966 (GRCm39)	Q228*	probably null	Het
Pnpla7	T	C	2: 24,940,885 (GRCm39)	V1079A	probably damaging	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ppp1r14c	A	G	10: 3,413,416 (GRCm39)	I150V	possibly damaging	Het
Ppp1r2	A	G	16: 31,079,455 (GRCm39)	Y115H	possibly damaging	Het
Ptchd4	T	C	17: 42,813,668 (GRCm39)	V523A	probably benign	Het
Rabep1	G	C	11: 70,808,577 (GRCm39)	S468T	probably damaging	Het
Rgs6	T	A	12: 83,112,789 (GRCm39)	W200R	probably damaging	Het
Ryr3	C	T	2: 112,585,519 (GRCm39)		probably null	Het
Scamp2	A	T	9: 57,484,477 (GRCm39)	D20V	probably damaging	Het
Sec24d	G	A	3: 123,152,519 (GRCm39)	V844M	probably damaging	Het
Septin10	T	A	10: 59,028,151 (GRCm39)	N57Y	probably damaging	Het
Sis	T	C	3: 72,835,570 (GRCm39)	K931E	possibly damaging	Het
Slamf7	T	C	1: 171,463,934 (GRCm39)	T258A	probably benign	Het
Slc15a1	A	G	14: 121,724,441 (GRCm39)	S144P	probably damaging	Het
Slc6a7	A	T	18: 61,135,253 (GRCm39)	V425E	probably benign	Het
Syt7	C	T	19: 10,416,576 (GRCm39)	R253*	probably null	Het
Tm4sf1	A	T	3: 57,202,206 (GRCm39)	C2S	possibly damaging	Het
Trio	CCTTCTTCTTCT	CCTTCTTCT	15: 27,773,084 (GRCm39)		probably benign	Het
Trpm3	C	T	19: 22,879,506 (GRCm39)	H594Y	probably damaging	Het
Tshz1	A	T	18: 84,033,207 (GRCm39)	N400K	probably damaging	Het
Vat1	A	T	11: 101,351,441 (GRCm39)	M300K	probably benign	Het
Vmn1r70	C	A	7: 10,367,556 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,339 (GRCm39)	D410N	probably damaging	Het
Zbed6	A	G	1: 133,587,127 (GRCm39)	I70T	probably benign	Het
Zfp157	A	G	5: 138,455,191 (GRCm39)	Y463C	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
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'- TGGCTCCCTGCAGCTCTATAAC -3'
(R):5'- ACACTGTGTGCTTCAGTTGG -3'

Sequencing Primer
(F):5'- TGCAGCTCTATAACCACGTGAG -3'
(R):5'- GTATGGGTATAGCTACGCTCACAC -3'

Posted On

2015-09-24