Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02999:Stac'

407251

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stac

Ensembl Gene

ENSMUSG00000032502

Gene Name

src homology three (SH3) and cysteine rich domain

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02999

Quality Score

Status

Chromosome

Chromosomal Location

111390505-111519416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111433198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 207 (G207C)

Ref Sequence

ENSEMBL: ENSMUSP00000035083 (fasta)

Gene Model

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

AlphaFold

P97306

Predicted Effect

probably damaging
Transcript: ENSMUST00000035083
AA Change: G207C

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

SMART Domains

Protein: ENSMUSP00000035083
Gene: ENSMUSG00000032502
AA Change: G207C

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,424 (GRCm39)	R297S	possibly damaging	Het
Abca13	G	A	11: 9,531,757 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,908,100 (GRCm39)	V94D	probably damaging	Het
Adgrv1	C	T	13: 81,726,973 (GRCm39)	A460T	probably benign	Het
Atp8a2	C	A	14: 60,162,571 (GRCm39)	E717*	probably null	Het
Brinp3	A	T	1: 146,577,587 (GRCm39)		probably null	Het
Camk1d	C	A	2: 5,359,516 (GRCm39)	V177L	probably benign	Het
Chst11	A	G	10: 83,027,538 (GRCm39)	I322V	possibly damaging	Het
Cobl	T	C	11: 12,293,869 (GRCm39)	T296A	possibly damaging	Het
Dcc	A	C	18: 71,511,749 (GRCm39)	F869V	possibly damaging	Het
Dock2	G	T	11: 34,583,086 (GRCm39)	T609K	probably damaging	Het
Ercc5	A	G	1: 44,206,814 (GRCm39)	T576A	probably benign	Het
Faf1	A	G	4: 109,719,090 (GRCm39)	I399V	probably benign	Het
Fndc3b	T	G	3: 27,592,388 (GRCm39)	E170A	probably damaging	Het
Ggt7	C	A	2: 155,344,633 (GRCm39)	V237L	probably benign	Het
Hectd1	G	T	12: 51,874,205 (GRCm39)	Q24K	possibly damaging	Het
Krt19	T	C	11: 100,032,235 (GRCm39)		probably benign	Het
Lilrb4a	T	C	10: 51,370,239 (GRCm39)	L259P	probably damaging	Het
Limd1	T	C	9: 123,345,864 (GRCm39)	Y548H	probably damaging	Het
Lingo2	A	G	4: 35,708,744 (GRCm39)	I412T	probably damaging	Het
Lrrc34	T	A	3: 30,688,782 (GRCm39)	Q173L	probably damaging	Het
Lrrn3	A	T	12: 41,502,750 (GRCm39)	N522K	probably benign	Het
Mgat4e	A	C	1: 134,468,928 (GRCm39)	L372R	probably damaging	Het
Nedd4l	A	G	18: 65,331,778 (GRCm39)	D638G	probably damaging	Het
Olfm3	T	C	3: 114,916,397 (GRCm39)	M423T	probably damaging	Het
Or8g54	T	C	9: 39,706,752 (GRCm39)	L27P	probably damaging	Het
Pcsk7	T	A	9: 45,838,897 (GRCm39)	I603N	possibly damaging	Het
Ptpn2	A	G	18: 67,814,580 (GRCm39)	V143A	probably damaging	Het
Rabgap1	C	A	2: 37,373,838 (GRCm39)	D283E	possibly damaging	Het
Reln	G	A	5: 22,200,363 (GRCm39)	S1379F	probably damaging	Het
Rpap2	T	A	5: 107,749,697 (GRCm39)	F74I	possibly damaging	Het
Sel1l2	T	C	2: 140,072,724 (GRCm39)	E637G	probably damaging	Het
Slc28a2b	T	C	2: 122,344,995 (GRCm39)		probably benign	Het
St18	T	A	1: 6,887,829 (GRCm39)	V466E	probably benign	Het
Stra6	T	A	9: 58,042,396 (GRCm39)	N8K	probably benign	Het
Sytl4	C	T	X: 132,838,727 (GRCm39)	R649Q	probably benign	Het
Tas1r3	A	G	4: 155,946,816 (GRCm39)	V263A	probably damaging	Het
Tprg1	T	C	16: 25,136,218 (GRCm39)	Y70H	probably damaging	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
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
R4128: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

Posted On

2016-08-02