Mutagenetix > Incidental Mutation

Incidental Mutation 'R7765:Sh3yl1'

598198

Institutional Source

Beutler Lab

Gene Symbol

Sh3yl1

Ensembl Gene

ENSMUSG00000020669

Gene Name

Sh3 domain YSC-like 1

Synonyms

Ray, YSC84

MMRRC Submission

045821-MU

Accession Numbers

Essential gene?

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

Stock #

R7765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30961667-31010161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31008868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 266 (L266P)

Ref Sequence

ENSEMBL: ENSMUSP00000020997 (fasta)

Gene Model

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

AlphaFold

O08641

Predicted Effect

probably damaging
Transcript: ENSMUST00000020997
AA Change: L266P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020997
Gene: ENSMUSG00000020669
AA Change: L266P

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: L228P

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

SMART Domains

Protein: ENSMUSP00000106504
Gene: ENSMUSG00000020669
AA Change: L228P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,297,345 (GRCm39)	E187G	probably damaging	Het
Adam28	C	T	14: 68,846,555 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,559,160 (GRCm39)	T189M	probably damaging	Het
Apaf1	A	G	10: 90,859,644 (GRCm39)	Y845H	probably benign	Het
Asb14	G	T	14: 26,619,718 (GRCm39)	V55F	probably benign	Het
Brap	A	T	5: 121,800,192 (GRCm39)	D71V	probably damaging	Het
Ccdc93	T	G	1: 121,427,042 (GRCm39)	F610V	probably damaging	Het
Cfap46	T	G	7: 139,231,480 (GRCm39)	D911A		Het
Chn2	T	C	6: 54,275,137 (GRCm39)		probably null	Het
Cib3	A	G	8: 72,958,269 (GRCm39)	F156S	probably damaging	Het
Csnk2a1-ps3	G	A	1: 156,352,354 (GRCm39)	G185D	possibly damaging	Het
Ctif	A	T	18: 75,738,715 (GRCm39)	V164D	probably damaging	Het
Ddx27	T	A	2: 166,869,879 (GRCm39)	F405I	probably damaging	Het
Dnttip2	A	G	3: 122,069,594 (GRCm39)	T270A	probably benign	Het
Dst	T	A	1: 34,314,775 (GRCm39)	S4455T	probably damaging	Het
Efcab8	A	G	2: 153,685,110 (GRCm39)	K47R		Het
Efhd2	T	C	4: 141,601,886 (GRCm39)	E98G	probably damaging	Het
Fcmr	T	A	1: 130,802,025 (GRCm39)	L93Q	probably damaging	Het
Fhdc1	T	A	3: 84,351,906 (GRCm39)	E1106D	probably benign	Het
Gcnt1	C	T	19: 17,306,723 (GRCm39)	G334D	probably damaging	Het
Hltf	T	C	3: 20,145,647 (GRCm39)	F488L	probably benign	Het
Hmgxb4	C	A	8: 75,727,436 (GRCm39)	H140N	probably damaging	Het
Ifi214	A	T	1: 173,352,402 (GRCm39)	F342L	probably damaging	Het
Ip6k1	A	G	9: 107,909,288 (GRCm39)	D105G	possibly damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kif18a	G	A	2: 109,137,285 (GRCm39)	D506N	probably benign	Het
Klf17	T	A	4: 117,617,812 (GRCm39)	M182L	probably benign	Het
Kmt2d	A	G	15: 98,750,215 (GRCm39)	F2493L	unknown	Het
Lefty1	A	G	1: 180,764,112 (GRCm39)	E84G	probably damaging	Het
Lyst	T	G	13: 13,884,117 (GRCm39)	L2975R	possibly damaging	Het
Magea5	G	A	X: 153,837,174 (GRCm39)	P73S	possibly damaging	Het
Mctp2	T	C	7: 71,740,079 (GRCm39)		probably null	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Myh8	T	A	11: 67,194,481 (GRCm39)	I1564N	probably benign	Het
Npc1	A	T	18: 12,328,105 (GRCm39)	M1068K	probably benign	Het
Nr2e1	A	G	10: 42,450,433 (GRCm39)	C60R	probably benign	Het
Nrxn3	A	G	12: 89,780,254 (GRCm39)	I29V	probably benign	Het
Ntsr1	T	A	2: 180,180,610 (GRCm39)	H305Q	probably damaging	Het
Or2y1e	A	G	11: 49,218,571 (GRCm39)	E111G	probably damaging	Het
Or8g35	A	G	9: 39,381,612 (GRCm39)	S137P	probably benign	Het
Or8h10	T	A	2: 86,808,538 (GRCm39)	I201F	probably damaging	Het
Pate2	A	C	9: 35,581,197 (GRCm39)	E22D	probably benign	Het
Pcdhb22	A	G	18: 37,652,158 (GRCm39)	T209A	probably damaging	Het
Pdss2	C	T	10: 43,340,628 (GRCm39)	S352F	probably benign	Het
Pfn3	T	A	13: 55,562,900 (GRCm39)	D27V	probably damaging	Het
Pigg	T	G	5: 108,461,920 (GRCm39)	S84A	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Rad51b	T	C	12: 79,850,044 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,970 (GRCm39)	V1632A	possibly damaging	Het
Serpinb3d	T	G	1: 107,007,512 (GRCm39)	D158A	probably damaging	Het
Sidt2	A	T	9: 45,852,873 (GRCm39)		probably null	Het
Stox1	C	T	10: 62,501,778 (GRCm39)	V261M	probably benign	Het
Taf7l2	T	A	10: 115,949,158 (GRCm39)	K123*	probably null	Het
Tll1	A	G	8: 64,504,483 (GRCm39)	Y638H	probably damaging	Het
Tst	A	T	15: 78,289,816 (GRCm39)	M73K	possibly damaging	Het
Tuba4a	C	T	1: 75,193,003 (GRCm39)	V232M	probably benign	Het
Unk	T	A	11: 115,943,908 (GRCm39)	V343D	probably benign	Het
Usf3	T	C	16: 44,039,426 (GRCm39)	V1302A	probably benign	Het
Usp32	A	T	11: 84,885,234 (GRCm39)	L1271H	probably damaging	Het
Vwa5b2	C	T	16: 20,413,361 (GRCm39)	P192L	probably benign	Het
Zfp995	A	G	17: 22,100,984 (GRCm39)	Y38H	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
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
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'- ACAAGGTCAGGATTTGATGGTTT -3'
(R):5'- CAAAAGCATGCCTTGTCACT -3'

Sequencing Primer
(F):5'- AGCTGATTGTGAGCATCCAC -3'
(R):5'- GCATGCCTTGTCACTAAACAATATTC -3'

Posted On

2019-11-26