Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03381:Sh3yl1'

420695

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 #

IGL03381

Quality Score

Status

Chromosome

Chromosomal Location

30961667-31010161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30976836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 47 (I47T)

Ref Sequence

ENSEMBL: ENSMUSP00000106504 (fasta)

Gene Model

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

AlphaFold

O08641

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020997
AA Change: I85T

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020997
Gene: ENSMUSG00000020669
AA Change: I85T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110880
AA Change: I47T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106504
Gene: ENSMUSG00000020669
AA Change: I47T

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	T	C	17: 47,200,812 (GRCm39)		probably benign	Het
Abca16	T	C	7: 120,127,041 (GRCm39)	F1243S	probably benign	Het
Adgrv1	A	G	13: 81,666,086 (GRCm39)	V1990A	probably damaging	Het
Arhgdib	G	A	6: 136,909,314 (GRCm39)	T69I	probably benign	Het
Atf2	G	A	2: 73,659,012 (GRCm39)	A214V	probably benign	Het
Ccr2	G	A	9: 123,906,409 (GRCm39)	V230I	probably benign	Het
Cnksr1	T	C	4: 133,959,482 (GRCm39)	E384G	probably damaging	Het
Epha5	T	A	5: 84,479,191 (GRCm39)	D271V	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gpr15	A	G	16: 58,538,339 (GRCm39)	F250S	probably damaging	Het
Gzmf	A	T	14: 56,444,450 (GRCm39)	V41E	probably benign	Het
H2-T10	C	T	17: 36,430,246 (GRCm39)	D232N	probably benign	Het
H2-T10	T	A	17: 36,430,249 (GRCm39)	K231*	probably null	Het
Hsd3b6	A	G	3: 98,715,128 (GRCm39)	V88A	possibly damaging	Het
Kit	C	T	5: 75,767,788 (GRCm39)	T57M	probably benign	Het
Klhl22	A	G	16: 17,610,591 (GRCm39)	D614G	possibly damaging	Het
Matr3	T	A	18: 35,712,078 (GRCm39)		probably benign	Het
Mff	A	G	1: 82,719,661 (GRCm39)	Y213C	probably damaging	Het
Mrnip	A	G	11: 50,090,417 (GRCm39)	T194A	probably benign	Het
Msh6	T	C	17: 88,292,537 (GRCm39)	F431L	probably damaging	Het
Mttp	G	A	3: 137,810,704 (GRCm39)	R637C	probably damaging	Het
Nlrc3	A	G	16: 3,782,179 (GRCm39)	V410A	probably benign	Het
Or4c120	A	G	2: 89,001,523 (GRCm39)	I11T	possibly damaging	Het
Or52a5b	T	C	7: 103,417,044 (GRCm39)	I187V	probably benign	Het
Or5b108	T	A	19: 13,168,769 (GRCm39)	V246D	probably damaging	Het
Pramel21	T	C	4: 143,343,625 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,404,022 (GRCm39)	T2A	probably benign	Het
Rbm33	T	C	5: 28,599,390 (GRCm39)	F921L	unknown	Het
Rhbdl2	T	C	4: 123,716,610 (GRCm39)	V189A	possibly damaging	Het
Rpap2	C	T	5: 107,768,067 (GRCm39)	P302S	probably benign	Het
Sec23ip	T	A	7: 128,352,029 (GRCm39)	V32D	probably damaging	Het
Spmip4	T	C	6: 50,566,116 (GRCm39)	S120G	probably damaging	Het
Tenm2	A	C	11: 35,959,238 (GRCm39)	S1104A	probably benign	Het
Ufd1	A	G	16: 18,644,507 (GRCm39)	D190G	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,512 (GRCm39)	F224L	probably benign	Het
Utp20	G	T	10: 88,657,867 (GRCm39)	F64L	probably damaging	Het
Vmn1r198	A	G	13: 22,539,006 (GRCm39)	Y164C	probably benign	Het
Wdcp	T	A	12: 4,901,926 (GRCm39)	V594D	probably damaging	Het
Xirp2	A	C	2: 67,344,570 (GRCm39)	E2270D	probably benign	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
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
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

2016-08-02