Mutagenetix > Incidental Mutation

Incidental Mutation 'R1507:Yap1'

168000

Institutional Source

Beutler Lab

Gene Symbol

Yap1

Ensembl Gene

ENSMUSG00000053110

Gene Name

yes-associated protein 1

Synonyms

yorkie, Yki, Yap

MMRRC Submission

039555-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7932000-8004597 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 7953141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P46938

Predicted Effect

probably benign
Transcript: ENSMUST00000065353

SMART Domains

Protein: ENSMUSP00000069554
Gene: ENSMUSG00000053110

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 benign
Transcript: ENSMUST00000086580

SMART Domains

Protein: ENSMUSP00000083772
Gene: ENSMUSG00000053110

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

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

100% (66/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	T	G	2: 154,391,539 (GRCm39)	V102G	probably benign	Het
Adgrv1	T	C	13: 81,620,699 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,987,441 (GRCm39)	D2908E	probably damaging	Het
Aox1	A	G	1: 58,143,610 (GRCm39)	M1243V	probably benign	Het
Apobec2	T	C	17: 48,730,003 (GRCm39)	D221G	possibly damaging	Het
Bcas1	T	C	2: 170,208,348 (GRCm39)	D472G	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,437 (GRCm39)		noncoding transcript	Het
Cd209d	G	T	8: 3,928,453 (GRCm39)	Q11K	possibly damaging	Het
Cdc14a	G	A	3: 116,087,646 (GRCm39)	T455I	possibly damaging	Het
Cep120	A	G	18: 53,830,729 (GRCm39)	S843P	probably damaging	Het
Cped1	A	T	6: 22,122,260 (GRCm39)	H380L	probably damaging	Het
Derl2	A	T	11: 70,898,171 (GRCm39)	W233R	probably benign	Het
Drd5	A	T	5: 38,478,065 (GRCm39)	I353F	probably damaging	Het
E330034G19Rik	A	T	14: 24,357,055 (GRCm39)	Q197L	possibly damaging	Het
Edil3	T	A	13: 89,279,831 (GRCm39)	S170T	probably damaging	Het
Gldc	T	A	19: 30,096,038 (GRCm39)	T658S	probably damaging	Het
Gpr146	A	G	5: 139,379,124 (GRCm39)	M309V	probably benign	Het
H2bc18	A	G	3: 96,177,189 (GRCm39)	Y41C	probably damaging	Het
Hexim2	T	A	11: 103,029,147 (GRCm39)	C66*	probably null	Het
Htr2a	T	C	14: 74,943,419 (GRCm39)	V333A	probably damaging	Het
Igdcc4	A	G	9: 65,041,026 (GRCm39)	E1065G	probably damaging	Het
Katnip	T	A	7: 125,465,524 (GRCm39)	D1325E	probably damaging	Het
Kcnk9	T	A	15: 72,384,083 (GRCm39)	E365V	possibly damaging	Het
Kif28	T	A	1: 179,563,571 (GRCm39)	N135I	probably damaging	Het
Kmt2a	A	T	9: 44,729,700 (GRCm39)		probably benign	Het
Lamb2	A	T	9: 108,367,581 (GRCm39)	I1788F	probably damaging	Het
Lsm6	G	A	8: 79,539,608 (GRCm39)	R31*	probably null	Het
Mical3	T	A	6: 121,019,199 (GRCm39)	T8S	probably benign	Het
Ncapg2	T	C	12: 116,424,186 (GRCm39)	F1123S	probably benign	Het
Nprl2	A	G	9: 107,420,191 (GRCm39)	D30G	probably benign	Het
Or51l4	C	T	7: 103,404,228 (GRCm39)	R188H	probably benign	Het
Or5ac24	A	T	16: 59,165,856 (GRCm39)	D69E	probably damaging	Het
Or8b51	A	T	9: 38,569,310 (GRCm39)	I126N	probably damaging	Het
Parvg	T	A	15: 84,214,359 (GRCm39)	V181E	probably damaging	Het
Pfas	T	C	11: 68,880,860 (GRCm39)	T1106A	probably benign	Het
Plekhh1	A	T	12: 79,126,224 (GRCm39)	T1310S	probably damaging	Het
Potegl	A	G	2: 23,098,086 (GRCm39)	Y88C	probably damaging	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef2	A	T	3: 78,988,600 (GRCm39)		probably benign	Het
Rfx3	G	T	19: 27,745,913 (GRCm39)	T731K	probably benign	Het
Rnf31	A	T	14: 55,836,439 (GRCm39)	K634*	probably null	Het
Scp2	CACTTTAATAATACTTT	CACTTT	4: 107,944,209 (GRCm39)		probably null	Het
Set	A	G	2: 29,959,106 (GRCm39)	H101R	probably damaging	Het
Slc30a6	G	T	17: 74,715,857 (GRCm39)	V106F	probably damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Spaca3	G	A	11: 80,753,983 (GRCm39)	R40H	probably damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Tenm3	A	G	8: 48,740,857 (GRCm39)	S1209P	probably benign	Het
Tmprss11g	T	C	5: 86,647,470 (GRCm39)	T23A	probably benign	Het
Topors	A	G	4: 40,261,829 (GRCm39)	V485A	probably damaging	Het
Tpgs1	T	A	10: 79,511,620 (GRCm39)	L254Q	probably damaging	Het
Traf3	A	C	12: 111,227,194 (GRCm39)	T336P	probably benign	Het
Ttn	T	A	2: 76,710,934 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 37,981,114 (GRCm39)	R2388W	probably damaging	Het
Unc13a	A	G	8: 72,110,910 (GRCm39)	S434P	probably benign	Het
Usp33	A	G	3: 152,080,400 (GRCm39)	I510M	possibly damaging	Het
Vmn1r65	C	A	7: 6,012,108 (GRCm39)	G42V	probably benign	Het
Xab2	A	G	8: 3,666,031 (GRCm39)	L262S	possibly damaging	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfp609	A	G	9: 65,702,059 (GRCm39)	Y198H	possibly damaging	Het
Zfp629	T	A	7: 127,211,033 (GRCm39)	K259*	probably null	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
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
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'- AAGACAAAGGCTGCACTCTAACCTG -3'
(R):5'- GTACAACTTGCCGCTTTGATTCCTG -3'

Sequencing Primer
(F):5'- ACCTGCCGAAATAATTCCTGTTG -3'
(R):5'- CTGTTCTCTGATGCTACACAAG -3'

Posted On

2014-04-13