Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Stac2'

93036

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stac2

Ensembl Gene

ENSMUSG00000017400

Gene Name

SH3 and cysteine rich domain 2

Synonyms

24b2, 24b2/STAC2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

98036623-98053462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98041354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 241 (E241G)

Ref Sequence

ENSEMBL: ENSMUSP00000017544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017544]

AlphaFold

Q8R1B0

Predicted Effect

probably benign
Transcript: ENSMUST00000017544
AA Change: E241G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: E241G

Domain	Start	End	E-Value	Type
low complexity region	63	81	N/A	INTRINSIC
low complexity region	89	101	N/A	INTRINSIC
C1	111	161	1.73e-5	SMART
low complexity region	219	236	N/A	INTRINSIC
low complexity region	261	276	N/A	INTRINSIC
SH3	292	347	1.92e-18	SMART
Blast:SH3	352	407	1e-19	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000131519
AA Change: E66G

SMART Domains

Protein: ENSMUSP00000118164
Gene: ENSMUSG00000017400
AA Change: E66G

Domain	Start	End	E-Value	Type
Pfam:STAC2_u1	6	115	1.8e-32	PFAM
low complexity region	146	157	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Stac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Stac2	APN	11	98041179	missense	probably benign	0.00
IGL01148:Stac2	APN	11	98043561	nonsense	probably null
IGL01320:Stac2	APN	11	98040095	splice site	probably null
IGL01614:Stac2	APN	11	98052948	missense	probably benign	0.10
IGL02797:Stac2	APN	11	98043519	missense	possibly damaging	0.92
IGL03025:Stac2	APN	11	98043722	missense	probably damaging	0.97
IGL03386:Stac2	APN	11	98041140	missense	possibly damaging	0.52
R0699:Stac2	UTSW	11	98042785	missense	possibly damaging	0.92
R1664:Stac2	UTSW	11	98042594	missense	probably damaging	1.00
R1799:Stac2	UTSW	11	98039618	critical splice donor site	probably null
R1868:Stac2	UTSW	11	98052945	missense	probably benign	0.00
R4731:Stac2	UTSW	11	98039695	missense	probably damaging	1.00
R4748:Stac2	UTSW	11	98041372	missense	possibly damaging	0.59
R4943:Stac2	UTSW	11	98041572	missense	probably benign	0.04
R4955:Stac2	UTSW	11	98043548	missense	possibly damaging	0.69
R5171:Stac2	UTSW	11	98043498	missense	possibly damaging	0.75
R7345:Stac2	UTSW	11	98042613	missense	probably damaging	1.00
R7527:Stac2	UTSW	11	98039626	missense	probably damaging	1.00
R7963:Stac2	UTSW	11	98041577	missense	probably benign
R7982:Stac2	UTSW	11	98042553	missense	probably benign
R8878:Stac2	UTSW	11	98041547	missense	probably benign	0.00
R9790:Stac2	UTSW	11	98043623	missense	probably benign	0.02
R9791:Stac2	UTSW	11	98043623	missense	probably benign	0.02
Z1176:Stac2	UTSW	11	98043567	missense	probably benign

Posted On

2013-12-09