Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Stac2'

4510

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: 0.132) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

98036623-98053462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98041179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 265 (S265N)

Ref Sequence

ENSEMBL: ENSMUSP00000017544 (fasta)

Gene Model

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

AlphaFold

Q8R1B0

Predicted Effect

probably benign
Transcript: ENSMUST00000017544
AA Change: S265N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: S265N

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: S90N

SMART Domains

Protein: ENSMUSP00000118164
Gene: ENSMUSG00000017400
AA Change: S90N

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Stac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01637:Stac2	APN	11	98041354	missense	probably benign	0.00
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

2012-04-20