Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01361:Sh3yl1'

75763

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 #

IGL01361

Quality Score

Status

Chromosome

Chromosomal Location

30961667-31010161 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 30989563 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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	T	A	11: 5,546,706 (GRCm39)		probably benign	Het
C1qtnf3	G	A	15: 10,960,768 (GRCm39)	G157D	probably damaging	Het
Cacna1b	T	C	2: 24,569,107 (GRCm39)	E940G	possibly damaging	Het
Camta1	A	G	4: 151,229,149 (GRCm39)	L561P	probably damaging	Het
Car15	T	C	16: 17,655,718 (GRCm39)	Y27C	probably damaging	Het
Catsper1	G	T	19: 5,389,507 (GRCm39)	S474I	probably damaging	Het
Cps1	A	G	1: 67,234,304 (GRCm39)	D897G	probably benign	Het
Crtc1	A	G	8: 70,840,253 (GRCm39)	L540P	probably damaging	Het
Fdps	A	G	3: 89,001,749 (GRCm39)		probably benign	Het
Gprc6a	A	G	10: 51,491,526 (GRCm39)	I741T	probably damaging	Het
Hdac7	A	C	15: 97,709,323 (GRCm39)	M47R	possibly damaging	Het
Kalrn	T	C	16: 33,996,092 (GRCm39)		probably benign	Het
Kat14	C	A	2: 144,248,540 (GRCm39)		probably null	Het
Kcnu1	T	C	8: 26,376,796 (GRCm39)	V390A	possibly damaging	Het
Kdm5a	T	A	6: 120,375,977 (GRCm39)	Y578N	probably damaging	Het
Lrp1b	T	C	2: 41,000,763 (GRCm39)		probably benign	Het
Mpc2	G	T	1: 165,307,092 (GRCm39)	A98S	probably benign	Het
Nek10	T	C	14: 14,850,957 (GRCm38)	I334T	probably damaging	Het
Nufip2	T	A	11: 77,583,196 (GRCm39)	V370E	possibly damaging	Het
Nup160	C	A	2: 90,514,356 (GRCm39)	Y101*	probably null	Het
Obscn	T	A	11: 58,919,715 (GRCm39)	Y6174F	probably damaging	Het
Omp	A	T	7: 97,794,489 (GRCm39)	I46N	probably benign	Het
Pcbp4	A	T	9: 106,340,448 (GRCm39)		probably null	Het
Pctp	A	G	11: 89,879,552 (GRCm39)	V103A	probably damaging	Het
Pla2r1	A	G	2: 60,309,814 (GRCm39)	Y590H	probably damaging	Het
Ppfibp2	T	C	7: 107,343,508 (GRCm39)		probably null	Het
Reln	G	A	5: 22,124,019 (GRCm39)	T2829M	probably benign	Het
Sipa1l3	A	T	7: 29,048,112 (GRCm39)	Y210N	probably damaging	Het
Slc33a1	C	A	3: 63,850,833 (GRCm39)	C497F	probably damaging	Het
Srp9	G	A	1: 181,958,902 (GRCm39)	C25Y	probably damaging	Het
Traf4	C	A	11: 78,056,226 (GRCm39)	R14L	possibly damaging	Het
Tut7	A	T	13: 59,933,614 (GRCm39)	I894K	probably damaging	Het
Usf3	C	A	16: 44,033,000 (GRCm39)		probably null	Het
Vmn2r85	T	C	10: 130,254,690 (GRCm39)	T665A	probably benign	Het
Vps13a	C	T	19: 16,720,371 (GRCm39)	A405T	probably damaging	Het
Zan	A	T	5: 137,412,604 (GRCm39)		probably benign	Het

Other mutations in Sh3yl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02129:Sh3yl1	APN	12	30,992,876 (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

2013-10-07