Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03025:Stac2'

408146

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stac2

Ensembl Gene

ENSMUSG00000017400

Gene Name

SH3 and cysteine rich domain 2

Synonyms

24b2/STAC2, 24b2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL03025

Quality Score

Status

Chromosome

Chromosomal Location

97927449-97944288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97934548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 52 (F52S)

Ref Sequence

ENSEMBL: ENSMUSP00000017544 (fasta)

Gene Model

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

AlphaFold

Q8R1B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000017544
AA Change: F52S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: F52S

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

probably benign
Transcript: ENSMUST00000131519

SMART Domains

Protein: ENSMUSP00000118164
Gene: ENSMUSG00000017400

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,315,405 (GRCm39)	N91S	possibly damaging	Het
Adora1	T	C	1: 134,130,807 (GRCm39)	Y288C	probably damaging	Het
Avil	A	T	10: 126,849,446 (GRCm39)	T581S	probably benign	Het
Cacna1h	C	T	17: 25,651,868 (GRCm39)	W92*	probably null	Het
Calr3	A	C	8: 73,188,735 (GRCm39)		probably benign	Het
Cdan1	T	C	2: 120,561,222 (GRCm39)	E181G	probably damaging	Het
Clca4a	T	C	3: 144,663,079 (GRCm39)	N590S	probably benign	Het
Cnga1	T	A	5: 72,762,756 (GRCm39)	I253F	probably benign	Het
Cngb3	T	G	4: 19,283,498 (GRCm39)		probably benign	Het
Cstf3	T	A	2: 104,439,276 (GRCm39)	Y30N	possibly damaging	Het
Cyp2a12	T	A	7: 26,730,631 (GRCm39)	S199T	probably benign	Het
Dlg1	A	G	16: 31,624,545 (GRCm39)	I412V	probably benign	Het
Fasn	C	T	11: 120,708,974 (GRCm39)	V570M	probably benign	Het
Fhit	A	G	14: 10,421,534 (GRCm38)	S85P	probably damaging	Het
Frmd5	T	A	2: 121,383,825 (GRCm39)	M369L	probably benign	Het
Ftdc2	A	C	16: 58,458,076 (GRCm39)	I75S	probably damaging	Het
Gatb	T	C	3: 85,483,181 (GRCm39)	W63R	probably damaging	Het
Gga1	G	T	15: 78,772,382 (GRCm39)	L227F	probably damaging	Het
Itgb1	A	G	8: 129,449,065 (GRCm39)	N557S	possibly damaging	Het
Ltf	T	C	9: 110,854,169 (GRCm39)	V328A	possibly damaging	Het
Nefh	T	C	11: 4,895,289 (GRCm39)	E300G	probably damaging	Het
Nrip1	A	G	16: 76,091,353 (GRCm39)	V68A	probably benign	Het
Or1m1	T	C	9: 18,666,665 (GRCm39)	N89D	probably benign	Het
Pcdhb13	T	G	18: 37,575,817 (GRCm39)	V65G	probably damaging	Het
Pcdhb4	A	T	18: 37,443,030 (GRCm39)	Y780F	possibly damaging	Het
Plcd3	C	T	11: 102,965,724 (GRCm39)	E503K	probably benign	Het
Rbm6	T	A	9: 107,651,918 (GRCm39)	D903V	possibly damaging	Het
Rnf133	A	G	6: 23,649,134 (GRCm39)	M265T	probably benign	Het
Sbf1	T	C	15: 89,173,848 (GRCm39)	T1775A	probably damaging	Het
Serpina1f	T	A	12: 103,659,805 (GRCm39)	D159V	probably damaging	Het
Skap1	C	A	11: 96,593,508 (GRCm39)	S118R	probably damaging	Het
Slc17a9	C	A	2: 180,381,609 (GRCm39)		probably null	Het
Slc30a5	A	G	13: 100,950,395 (GRCm39)	S231P	probably damaging	Het
Them7	T	C	2: 105,128,150 (GRCm39)	S44P	probably benign	Het
Tnmd	A	G	X: 132,766,162 (GRCm39)		probably benign	Het
Trdmt1	A	T	2: 13,528,246 (GRCm39)	I105N	probably damaging	Het
Trpc1	C	T	9: 95,592,313 (GRCm39)	G554E	probably damaging	Het
Vmn1r37	A	G	6: 66,708,740 (GRCm39)	Y85C	probably benign	Het
Zim1	T	C	7: 6,685,058 (GRCm39)	T131A	probably benign	Het

Other mutations in Stac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Stac2	APN	11	97,932,005 (GRCm39)	missense	probably benign	0.00
IGL01148:Stac2	APN	11	97,934,387 (GRCm39)	nonsense	probably null
IGL01320:Stac2	APN	11	97,930,921 (GRCm39)	splice site	probably null
IGL01614:Stac2	APN	11	97,943,774 (GRCm39)	missense	probably benign	0.10
IGL01637:Stac2	APN	11	97,932,180 (GRCm39)	missense	probably benign	0.00
IGL02797:Stac2	APN	11	97,934,345 (GRCm39)	missense	possibly damaging	0.92
IGL03386:Stac2	APN	11	97,931,966 (GRCm39)	missense	possibly damaging	0.52
R0699:Stac2	UTSW	11	97,933,611 (GRCm39)	missense	possibly damaging	0.92
R1664:Stac2	UTSW	11	97,933,420 (GRCm39)	missense	probably damaging	1.00
R1799:Stac2	UTSW	11	97,930,444 (GRCm39)	critical splice donor site	probably null
R1868:Stac2	UTSW	11	97,943,771 (GRCm39)	missense	probably benign	0.00
R4731:Stac2	UTSW	11	97,930,521 (GRCm39)	missense	probably damaging	1.00
R4748:Stac2	UTSW	11	97,932,198 (GRCm39)	missense	possibly damaging	0.59
R4943:Stac2	UTSW	11	97,932,398 (GRCm39)	missense	probably benign	0.04
R4955:Stac2	UTSW	11	97,934,374 (GRCm39)	missense	possibly damaging	0.69
R5171:Stac2	UTSW	11	97,934,324 (GRCm39)	missense	possibly damaging	0.75
R7345:Stac2	UTSW	11	97,933,439 (GRCm39)	missense	probably damaging	1.00
R7527:Stac2	UTSW	11	97,930,452 (GRCm39)	missense	probably damaging	1.00
R7963:Stac2	UTSW	11	97,932,403 (GRCm39)	missense	probably benign
R7982:Stac2	UTSW	11	97,933,379 (GRCm39)	missense	probably benign
R8878:Stac2	UTSW	11	97,932,373 (GRCm39)	missense	probably benign	0.00
R9790:Stac2	UTSW	11	97,934,449 (GRCm39)	missense	probably benign	0.02
R9791:Stac2	UTSW	11	97,934,449 (GRCm39)	missense	probably benign	0.02
Z1176:Stac2	UTSW	11	97,934,393 (GRCm39)	missense	probably benign

Posted On

2016-08-02