Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01870:Stac'

178692

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 #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

111390505-111519416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111401400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 349 (I349V)

Ref Sequence

ENSEMBL: ENSMUSP00000035083 (fasta)

Gene Model

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

AlphaFold

P97306

Predicted Effect

probably benign
Transcript: ENSMUST00000035083
AA Change: I349V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035083
Gene: ENSMUSG00000032502
AA Change: I349V

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,310 (GRCm39)	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,438,604 (GRCm39)	K300E	probably damaging	Het
Cma2	C	A	14: 56,211,194 (GRCm39)	S162Y	probably benign	Het
Cntn4	A	G	6: 106,466,676 (GRCm39)	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,824,377 (GRCm39)	M556L	probably benign	Het
Dld	A	G	12: 31,385,466 (GRCm39)	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,009,552 (GRCm39)	D3746E	probably benign	Het
Eea1	A	G	10: 95,809,848 (GRCm39)	T9A	probably damaging	Het
Eeig1	T	C	2: 32,456,294 (GRCm39)	S319P	probably benign	Het
Gbf1	A	G	19: 46,274,108 (GRCm39)	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
H2-M1	A	T	17: 36,980,955 (GRCm39)	M327K	probably benign	Het
Ifnz	T	A	4: 88,701,548 (GRCm39)	S176T	possibly damaging	Het
Irak4	T	C	15: 94,445,751 (GRCm39)	Y10H	probably benign	Het
Irx5	T	C	8: 93,086,405 (GRCm39)	F163L	probably damaging	Het
Jak3	C	T	8: 72,133,434 (GRCm39)	P376S	probably damaging	Het
Lrrc25	T	C	8: 71,070,437 (GRCm39)	S73P	possibly damaging	Het
Macf1	C	T	4: 123,367,906 (GRCm39)	G2285D	probably damaging	Het
Muc4	A	T	16: 32,574,624 (GRCm39)	T1025S	probably benign	Het
Mylk2	A	G	2: 152,757,134 (GRCm39)	N303S	probably benign	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Pcnx1	T	C	12: 82,022,667 (GRCm39)	V1512A	probably benign	Het
Phlda3	A	G	1: 135,694,376 (GRCm39)	S64G	probably benign	Het
Pptc7	C	A	5: 122,451,665 (GRCm39)	S40R	probably damaging	Het
Pramel19	T	A	4: 101,797,887 (GRCm39)	L95H	probably benign	Het
Ptpn4	A	C	1: 119,603,277 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,007,302 (GRCm39)	M160V	probably benign	Het
Synm	A	G	7: 67,385,866 (GRCm39)	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,052,915 (GRCm39)	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,601,411 (GRCm39)	V883I	possibly damaging	Het
Upp1	T	C	11: 9,075,700 (GRCm39)		probably null	Het
Whamm	C	T	7: 81,245,722 (GRCm39)	T726I	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
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
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

2014-05-07