Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02129:Sh3yl1'

280992

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3yl1

Ensembl Gene

ENSMUSG00000020669

Gene Name

Sh3 domain YSC-like 1

Synonyms

Ray, YSC84

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02129

Quality Score

Status

Chromosome

Chromosomal Location

30961667-31010161 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 30992876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020997] [ENSMUST00000110880]

AlphaFold

O08641

Predicted Effect

probably benign
Transcript: ENSMUST00000020997

SMART Domains

Protein: ENSMUSP00000020997
Gene: ENSMUSG00000020669

Domain	Start	End	E-Value	Type
Pfam:Ysc84	86	209	1.9e-42	PFAM
SH3	284	340	9.6e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110880

SMART Domains

Protein: ENSMUSP00000106504
Gene: ENSMUSG00000020669

Domain	Start	End	E-Value	Type
Pfam:DUF500	47	172	2.9e-44	PFAM
SH3	246	302	9.6e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142693

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a3	T	A	7: 24,696,711 (GRCm39)	H293L	probably damaging	Het
AU040320	A	G	4: 126,717,485 (GRCm39)	Y354C	probably damaging	Het
Bag4	T	C	8: 26,258,113 (GRCm39)	T405A	probably damaging	Het
Best1	T	A	19: 9,970,285 (GRCm39)	Q109L	probably benign	Het
Bod1l	G	A	5: 41,979,193 (GRCm39)	T707I	probably benign	Het
Bora	G	A	14: 99,294,257 (GRCm39)		probably null	Het
Btnl9	A	C	11: 49,060,100 (GRCm39)	D464E	probably damaging	Het
Cebpe	T	A	14: 54,949,070 (GRCm39)	R116W	probably damaging	Het
Col6a6	T	C	9: 105,613,539 (GRCm39)		probably benign	Het
Copb2	T	C	9: 98,467,976 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,470,837 (GRCm39)	E3G	unknown	Het
Fam117b	A	G	1: 60,020,582 (GRCm39)	H484R	probably benign	Het
Fgb	T	A	3: 82,950,725 (GRCm39)	K343M	probably benign	Het
Fkbpl	C	T	17: 34,864,952 (GRCm39)	T240M	probably damaging	Het
Gemin6	T	C	17: 80,535,355 (GRCm39)	L105P	probably damaging	Het
Heatr3	T	C	8: 88,884,899 (GRCm39)		probably benign	Het
Itch	C	T	2: 155,059,908 (GRCm39)		probably benign	Het
Kank3	C	T	17: 34,036,465 (GRCm39)	P111L	probably benign	Het
Mthfsl	T	A	9: 88,597,589 (GRCm39)	I111F	probably damaging	Het
Mtor	A	T	4: 148,634,302 (GRCm39)	M2382L	possibly damaging	Het
Myh2	A	G	11: 67,076,084 (GRCm39)	D757G	probably benign	Het
Naa35	A	G	13: 59,757,339 (GRCm39)	D238G	probably damaging	Het
Nckap5	A	T	1: 125,955,432 (GRCm39)	Y373*	probably null	Het
Or5an10	T	A	19: 12,275,822 (GRCm39)	I225F	probably damaging	Het
Pigm	G	A	1: 172,205,434 (GRCm39)	W390*	probably null	Het
Plxnb2	A	G	15: 89,044,613 (GRCm39)	V1211A	probably benign	Het
Spg11	T	A	2: 121,926,167 (GRCm39)	Q709H	probably damaging	Het
Spr-ps1	A	G	6: 85,132,804 (GRCm39)		noncoding transcript	Het
Tc2n	T	C	12: 101,656,048 (GRCm39)	N208D	probably damaging	Het
Tdo2	C	T	3: 81,866,232 (GRCm39)	V344M	probably damaging	Het
Ttll1	G	A	15: 83,368,450 (GRCm39)	P403S	probably benign	Het
Usp20	T	C	2: 30,894,462 (GRCm39)	V126A	probably benign	Het
Zfp109	T	C	7: 23,936,054 (GRCm39)	T2A	possibly damaging	Het

Other mutations in Sh3yl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Sh3yl1	APN	12	30,989,563 (GRCm39)	splice site	probably benign
IGL02448:Sh3yl1	APN	12	30,989,666 (GRCm39)	missense	probably damaging	0.99
IGL03181:Sh3yl1	APN	12	30,991,979 (GRCm39)	missense	possibly damaging	0.74
IGL03381:Sh3yl1	APN	12	30,976,836 (GRCm39)	missense	possibly damaging	0.94
R1954:Sh3yl1	UTSW	12	30,972,332 (GRCm39)	missense	possibly damaging	0.57
R1955:Sh3yl1	UTSW	12	30,972,332 (GRCm39)	missense	possibly damaging	0.57
R1956:Sh3yl1	UTSW	12	30,992,787 (GRCm39)	critical splice acceptor site	probably null
R1957:Sh3yl1	UTSW	12	30,992,787 (GRCm39)	critical splice acceptor site	probably null
R2248:Sh3yl1	UTSW	12	30,992,869 (GRCm39)	critical splice donor site	probably null
R3430:Sh3yl1	UTSW	12	31,009,841 (GRCm39)	missense	probably benign	0.00
R4776:Sh3yl1	UTSW	12	30,990,313 (GRCm39)	missense	probably damaging	1.00
R5505:Sh3yl1	UTSW	12	30,992,072 (GRCm39)	missense	probably damaging	1.00
R6152:Sh3yl1	UTSW	12	30,992,034 (GRCm39)	missense	probably benign	0.01
R7075:Sh3yl1	UTSW	12	30,990,165 (GRCm39)	splice site	probably null
R7765:Sh3yl1	UTSW	12	31,008,868 (GRCm39)	missense	probably damaging	1.00
R7904:Sh3yl1	UTSW	12	30,991,995 (GRCm39)	missense	probably benign
R8036:Sh3yl1	UTSW	12	30,992,098 (GRCm39)	missense	possibly damaging	0.68
R8424:Sh3yl1	UTSW	12	30,974,862 (GRCm39)	missense	probably damaging	1.00
R8462:Sh3yl1	UTSW	12	30,992,072 (GRCm39)	missense	probably damaging	1.00
R9267:Sh3yl1	UTSW	12	30,972,335 (GRCm39)	missense	possibly damaging	0.80
R9454:Sh3yl1	UTSW	12	30,990,420 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16