Mutagenetix > Incidental Mutation

Incidental Mutation 'R5505:Sh3yl1'

430893

Institutional Source

Beutler Lab

Gene Symbol

Sh3yl1

Ensembl Gene

ENSMUSG00000020669

Gene Name

Sh3 domain YSC-like 1

Synonyms

Ray, YSC84

MMRRC Submission

043066-MU

Accession Numbers

Essential gene?

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

Stock #

R5505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30961667-31010161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30992072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 176 (Y176N)

Ref Sequence

ENSEMBL: ENSMUSP00000106504 (fasta)

Gene Model

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

AlphaFold

O08641

Predicted Effect

probably damaging
Transcript: ENSMUST00000020997
AA Change: Y214N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020997
Gene: ENSMUSG00000020669
AA Change: Y214N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110880
AA Change: Y176N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106504
Gene: ENSMUSG00000020669
AA Change: Y176N

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

Meta Mutation Damage Score

0.3739

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.9%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	A	5: 24,606,036 (GRCm39)	D240E	probably damaging	Het
Alpk3	G	A	7: 80,728,309 (GRCm39)	E480K	possibly damaging	Het
Arhgap20	A	G	9: 51,750,248 (GRCm39)	E372G	probably damaging	Het
Atp23	G	T	10: 126,723,499 (GRCm39)	A201D	probably damaging	Het
Bpifb1	A	G	2: 154,046,699 (GRCm39)	D73G	probably benign	Het
Ccdc7a	A	G	8: 129,706,655 (GRCm39)	S325P	possibly damaging	Het
Cckar	A	G	5: 53,860,410 (GRCm39)	Y140H	probably damaging	Het
Cd46	A	T	1: 194,767,688 (GRCm39)	D124E	possibly damaging	Het
Cep290	T	C	10: 100,335,048 (GRCm39)		probably null	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Eif2ak1	T	C	5: 143,803,745 (GRCm39)	S34P	probably benign	Het
Enah	T	A	1: 181,734,018 (GRCm39)		probably benign	Het
Gad2	C	G	2: 22,514,845 (GRCm39)	L108V	probably benign	Het
Gpr22	T	C	12: 31,759,724 (GRCm39)	I133V	probably damaging	Het
Hdac4	T	C	1: 91,903,187 (GRCm39)	T13A	probably benign	Het
Ighv1-4	A	G	12: 114,451,057 (GRCm39)	V17A	possibly damaging	Het
Ints8	T	A	4: 11,221,143 (GRCm39)	Q744L	probably benign	Het
Lrit3	C	T	3: 129,585,087 (GRCm39)	V224I	possibly damaging	Het
Mgat4a	T	C	1: 37,535,035 (GRCm39)	I108V	probably benign	Het
Mmp9	T	C	2: 164,795,528 (GRCm39)	I682T	probably benign	Het
Myh7b	G	A	2: 155,474,592 (GRCm39)	A1742T	probably benign	Het
Nlrp12	C	T	7: 3,298,015 (GRCm39)	G52D	probably damaging	Het
Or5t9	T	C	2: 86,659,845 (GRCm39)	F250L	possibly damaging	Het
Pcnx1	T	C	12: 81,996,927 (GRCm39)	L941P	probably damaging	Het
Pla2g4e	T	C	2: 120,075,256 (GRCm39)	R45G	probably benign	Het
Plcz1	C	G	6: 139,961,942 (GRCm39)	G203A	probably damaging	Het
Poldip2	A	G	11: 78,406,001 (GRCm39)	T76A	probably benign	Het
Prdm15	T	A	16: 97,618,183 (GRCm39)	H325L	possibly damaging	Het
Ralyl	A	T	3: 13,841,980 (GRCm39)	I39F	probably damaging	Het
Rnf220	A	C	4: 117,153,288 (GRCm39)		probably benign	Het
Rnpc3	T	C	3: 113,409,102 (GRCm39)	K318E	probably damaging	Het
Rsbn1	T	A	3: 103,836,259 (GRCm39)	N432K	probably damaging	Het
Slc25a30	G	A	14: 76,000,789 (GRCm39)	L272F	probably damaging	Het
Spag1	T	C	15: 36,234,772 (GRCm39)	V844A	probably damaging	Het
Srsf5	T	C	12: 80,995,857 (GRCm39)		probably benign	Het
Tle2	T	A	10: 81,417,574 (GRCm39)	D223E	probably benign	Het
Tmem192	A	G	8: 65,416,898 (GRCm39)	E39G	possibly damaging	Het
Trpc6	T	A	9: 8,626,736 (GRCm39)	L362H	probably damaging	Het
Tuba4a	A	G	1: 75,193,060 (GRCm39)	Y185H	probably damaging	Het
Uba6	A	G	5: 86,268,405 (GRCm39)	V941A	probably benign	Het
Vmn2r35	A	T	7: 7,789,479 (GRCm39)	Y753N	probably damaging	Het
Zfp941	C	T	7: 140,391,830 (GRCm39)	V510I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATCATAAGATCGACTACACATG -3'
(R):5'- TCTACCTGCCAAACCTCTAGG -3'

Sequencing Primer
(F):5'- TGTGTGAATGTGCCATATTTCCC -3'
(R):5'- CCTCTAGGACATTTCTGAAGACG -3'

Posted On

2016-10-05