Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03181:Sh3yl1'

412252

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: 0.068) question?

Stock #

IGL03181

Quality Score

Status

Chromosome

Chromosomal Location

30961667-31010161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30991979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 145 (D145N)

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: D183N

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020997
Gene: ENSMUSG00000020669
AA Change: D183N

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: D145N

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106504
Gene: ENSMUSG00000020669
AA Change: D145N

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,240,147 (GRCm39)	V1319A	possibly damaging	Het
Abcb11	T	A	2: 69,158,352 (GRCm39)		probably benign	Het
Acss3	G	T	10: 106,889,249 (GRCm39)	H190Q	probably damaging	Het
Adra2b	C	T	2: 127,205,903 (GRCm39)	T140I	probably benign	Het
Arl1	T	A	10: 88,578,921 (GRCm39)		probably benign	Het
Atp4a	T	G	7: 30,424,129 (GRCm39)	C968G	probably benign	Het
Clec4n	T	C	6: 123,207,474 (GRCm39)	C13R	possibly damaging	Het
Cnot3	T	C	7: 3,656,247 (GRCm39)	Y178H	probably damaging	Het
Col18a1	G	A	10: 76,891,532 (GRCm39)	R1560C	probably damaging	Het
Cyp2c66	T	C	19: 39,130,483 (GRCm39)	F106S	probably benign	Het
Dcn	A	C	10: 97,319,314 (GRCm39)	E30D	probably damaging	Het
Dennd5a	A	T	7: 109,532,865 (GRCm39)	F302I	probably damaging	Het
Dip2b	T	C	15: 100,113,088 (GRCm39)	V1501A	probably damaging	Het
Dnah10	C	T	5: 124,825,521 (GRCm39)	P687S	probably damaging	Het
Drc7	A	G	8: 95,794,755 (GRCm39)	T387A	probably benign	Het
Dusp7	T	A	9: 106,251,009 (GRCm39)	M378K	probably damaging	Het
Ftmt	T	C	18: 52,464,953 (GRCm39)	Y90H	probably damaging	Het
Glb1l3	T	C	9: 26,739,659 (GRCm39)		probably null	Het
Gpatch3	T	C	4: 133,305,433 (GRCm39)	F223L	probably damaging	Het
Gpr158	T	A	2: 21,787,972 (GRCm39)	F538I	probably benign	Het
Gucy2e	A	G	11: 69,121,008 (GRCm39)		probably benign	Het
Hadha	A	G	5: 30,326,524 (GRCm39)	V566A	probably benign	Het
Hectd4	A	T	5: 121,492,021 (GRCm39)	S3787C	possibly damaging	Het
Hnrnpk	A	T	13: 58,542,130 (GRCm39)	D265E	possibly damaging	Het
Hspbp1	G	A	7: 4,687,363 (GRCm39)	R83W	probably damaging	Het
Hspg2	T	A	4: 137,243,248 (GRCm39)	L758Q	probably damaging	Het
Ippk	A	G	13: 49,595,463 (GRCm39)	Y180C	probably damaging	Het
Itpr3	T	A	17: 27,330,242 (GRCm39)	M1620K	probably benign	Het
Klf7	T	C	1: 64,074,885 (GRCm39)	K298R	possibly damaging	Het
Ktn1	A	T	14: 47,970,741 (GRCm39)	T1229S	probably benign	Het
Lefty2	A	G	1: 180,725,115 (GRCm39)	N282D	probably damaging	Het
Lrrc37	A	T	11: 103,507,242 (GRCm39)		probably benign	Het
Nsd1	G	A	13: 55,394,858 (GRCm39)	E820K	probably damaging	Het
Obsl1	C	A	1: 75,469,228 (GRCm39)	A1238S	probably benign	Het
Odr4	G	T	1: 150,239,290 (GRCm39)	P378T	probably benign	Het
Pias2	T	C	18: 77,220,938 (GRCm39)	I391T	possibly damaging	Het
Ppp1r10	G	T	17: 36,241,516 (GRCm39)	G764*	probably null	Het
Ptpra	T	C	2: 130,359,707 (GRCm39)	F158L	probably damaging	Het
Recql	T	C	6: 142,323,918 (GRCm39)	S59G	probably benign	Het
Rrp1b	A	T	17: 32,276,150 (GRCm39)	I566F	probably benign	Het
Slc35f5	T	A	1: 125,512,922 (GRCm39)	I52N	probably damaging	Het
Slc51b	A	G	9: 65,322,447 (GRCm39)		probably null	Het
Smpd4	C	T	16: 17,443,671 (GRCm39)	Q72*	probably null	Het
Spata6	A	G	4: 111,679,963 (GRCm39)	D391G	probably benign	Het
Tnc	T	A	4: 63,885,543 (GRCm39)	D1853V	possibly damaging	Het
Tnks1bp1	C	T	2: 84,893,058 (GRCm39)	T333I	probably benign	Het
Vmn2r100	T	A	17: 19,752,207 (GRCm39)	I813N	probably damaging	Het
Vwa8	T	A	14: 79,246,690 (GRCm39)	H677Q	probably benign	Het
Washc4	T	C	10: 83,426,883 (GRCm39)	Y1064H	probably damaging	Het
Wdr82	T	A	9: 106,063,614 (GRCm39)	I272K	probably benign	Het
Zc3h12a	T	C	4: 125,013,097 (GRCm39)	Y589C	probably 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
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
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

2016-08-02