Mutagenetix > Incidental Mutation

Incidental Mutation 'R4128:Stac'

315480

Institutional Source

Beutler Lab

Gene Symbol

Stac

Ensembl Gene

ENSMUSG00000032502

Gene Name

src homology three (SH3) and cysteine rich domain

Synonyms

MMRRC Submission

041635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R4128 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

111390505-111519416 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 111433126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035083] [ENSMUST00000161995]

AlphaFold

P97306

Predicted Effect

probably null
Transcript: ENSMUST00000035083

SMART Domains

Protein: ENSMUSP00000035083
Gene: ENSMUSG00000032502

Domain	Start	End	E-Value	Type
low complexity region	78	93	N/A	INTRINSIC
C1	109	160	5.91e-13	SMART
low complexity region	213	232	N/A	INTRINSIC
SH3	289	344	3.45e-20	SMART
Pfam:SH3_2	349	401	6.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161995

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	C	T	3: 95,588,982 (GRCm39)	R483Q	probably benign	Het
Bbox1	A	G	2: 110,100,525 (GRCm39)	V224A	probably benign	Het
Cavin2	A	G	1: 51,340,581 (GRCm39)	*419W	probably null	Het
Cdk19	A	G	10: 40,270,391 (GRCm39)	I67V	probably benign	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Chn2	G	T	6: 54,249,963 (GRCm39)	R24M	probably damaging	Het
Csl	T	C	10: 99,594,462 (GRCm39)	D201G	probably benign	Het
Erap1	T	C	13: 74,814,315 (GRCm39)	I33T	probably damaging	Het
Ermap	T	C	4: 119,044,308 (GRCm39)	T163A	possibly damaging	Het
Gnas	A	G	2: 174,141,958 (GRCm39)	N709S	possibly damaging	Het
Hsd17b14	G	A	7: 45,212,432 (GRCm39)	V155M	probably damaging	Het
Igf2bp2	C	T	16: 21,897,371 (GRCm39)	V281I	probably benign	Het
Ighj4	T	C	12: 113,392,176 (GRCm39)		probably benign	Het
Ireb2	T	A	9: 54,788,716 (GRCm39)	D63E	probably benign	Het
Jarid2	T	C	13: 45,055,732 (GRCm39)	S313P	probably damaging	Het
Kcnj11	A	G	7: 45,749,143 (GRCm39)	F60S	probably damaging	Het
Lyplal1	A	G	1: 185,821,736 (GRCm39)	C129R	possibly damaging	Het
Mertk	C	T	2: 128,619,358 (GRCm39)	Q539*	probably null	Het
Myrip	C	A	9: 120,293,764 (GRCm39)	S753*	probably null	Het
Narf	G	A	11: 121,141,261 (GRCm39)		probably null	Het
Neb	C	A	2: 52,182,712 (GRCm39)	L1051F	probably damaging	Het
Nid1	T	C	13: 13,650,957 (GRCm39)	V498A	probably damaging	Het
Or10ab5	T	C	7: 108,245,633 (GRCm39)	N50S	probably benign	Het
Or14j8	A	G	17: 38,263,681 (GRCm39)	I78T	probably benign	Het
Pam	A	G	1: 97,762,193 (GRCm39)	Y691H	probably damaging	Het
Poln	A	G	5: 34,261,295 (GRCm39)	S561P	probably benign	Het
Rab39	T	A	9: 53,597,804 (GRCm39)	I154L	probably benign	Het
Rnf187	A	T	11: 58,824,883 (GRCm39)	S220T	probably benign	Het
Stxbp3	T	C	3: 108,702,147 (GRCm39)	Q553R	probably benign	Het
Tmem179	A	T	12: 112,477,461 (GRCm39)	F8I	possibly damaging	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Ubash3a	T	C	17: 31,456,249 (GRCm39)	Y506H	probably damaging	Het
Unc13c	C	A	9: 73,641,819 (GRCm39)	A1225S	probably damaging	Het
Zranb1	C	A	7: 132,568,281 (GRCm39)	S313*	probably null	Het

Other mutations in Stac

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Stac	APN	9	111,464,107 (GRCm39)	missense	probably damaging	1.00
IGL01870:Stac	APN	9	111,401,400 (GRCm39)	missense	probably benign	0.22
IGL02999:Stac	APN	9	111,433,198 (GRCm39)	missense	probably damaging	1.00
IGL03004:Stac	APN	9	111,431,608 (GRCm39)	missense	probably benign	0.00
R0240:Stac	UTSW	9	111,464,089 (GRCm39)	missense	probably damaging	0.99
R0240:Stac	UTSW	9	111,464,089 (GRCm39)	missense	probably damaging	0.99
R1777:Stac	UTSW	9	111,433,150 (GRCm39)	missense	possibly damaging	0.94
R2210:Stac	UTSW	9	111,431,638 (GRCm39)	missense	probably damaging	0.99
R2237:Stac	UTSW	9	111,519,190 (GRCm39)	start gained	probably benign
R2238:Stac	UTSW	9	111,519,190 (GRCm39)	start gained	probably benign
R2239:Stac	UTSW	9	111,519,190 (GRCm39)	start gained	probably benign
R4125:Stac	UTSW	9	111,433,126 (GRCm39)	critical splice donor site	probably null
R4126:Stac	UTSW	9	111,433,126 (GRCm39)	critical splice donor site	probably null
R7069:Stac	UTSW	9	111,401,394 (GRCm39)	missense	possibly damaging	0.89
R8248:Stac	UTSW	9	111,422,813 (GRCm39)	missense	probably benign	0.01
R9030:Stac	UTSW	9	111,519,320 (GRCm39)	unclassified	probably benign
R9562:Stac	UTSW	9	111,401,411 (GRCm39)	missense	probably benign	0.00
X0057:Stac	UTSW	9	111,401,401 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCAGAAACTGTGGGGCATTG -3'
(R):5'- CTCAAGGTGGAGATCTGGCTTC -3'

Sequencing Primer
(F):5'- AGCTAATGAGTTTGAGGGACCTGC -3'
(R):5'- CTTCCCAGGCCCGGTGG -3'

Posted On

2015-05-14