Mutagenetix > Incidental Mutation

Incidental Mutation 'R7963:Stac2'

650230

Institutional Source

Beutler Lab

Gene Symbol

Stac2

Ensembl Gene

ENSMUSG00000017400

Gene Name

SH3 and cysteine rich domain 2

Synonyms

24b2/STAC2, 24b2

MMRRC Submission

046006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R7963 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97927449-97944288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97932403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 197 (T197A)

Ref Sequence

ENSEMBL: ENSMUSP00000017544 (fasta)

Gene Model

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

AlphaFold

Q8R1B0

Predicted Effect

probably benign
Transcript: ENSMUST00000017544
AA Change: T197A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: T197A

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

SMART Domains

Protein: ENSMUSP00000118164
Gene: ENSMUSG00000017400
AA Change: T22A

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,340,673 (GRCm39)	K101E	probably benign	Het
4930407I10Rik	A	G	15: 81,948,137 (GRCm39)	K678R	possibly damaging	Het
Akr1b10	G	C	6: 34,364,643 (GRCm39)	A35P	possibly damaging	Het
Arhgef10l	T	C	4: 140,306,736 (GRCm39)	E106G	probably damaging	Het
Atp9a	T	C	2: 168,516,732 (GRCm39)	Y445C	probably damaging	Het
Btbd18	T	C	2: 84,498,239 (GRCm39)	S626P	probably benign	Het
Cdh23	A	T	10: 60,171,967 (GRCm39)	N1738K	probably damaging	Het
Cdv3	T	C	9: 103,241,210 (GRCm39)	D119G	probably damaging	Het
Cep295	A	G	9: 15,244,737 (GRCm39)	F1240L	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Ctsr	C	A	13: 61,310,276 (GRCm39)	V127L	probably damaging	Het
Dlg1	G	A	16: 31,609,119 (GRCm39)	R271Q	probably null	Het
Dnaaf11	A	T	15: 66,252,366 (GRCm39)	D433E	probably damaging	Het
Dnajc1	G	A	2: 18,227,535 (GRCm39)	T377I	possibly damaging	Het
F2rl3	T	C	8: 73,489,333 (GRCm39)	Y187H	probably damaging	Het
Fgf1	A	T	18: 38,980,167 (GRCm39)	V69E	probably damaging	Het
Garem1	T	C	18: 21,281,844 (GRCm39)	K171E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Il2ra	G	A	2: 11,679,235 (GRCm39)	R65H	probably benign	Het
Lrp1b	T	C	2: 40,817,947 (GRCm39)	I2428V		Het
Lrp3	G	A	7: 34,902,404 (GRCm39)	Q579*	probably null	Het
Ncoa6	G	A	2: 155,247,916 (GRCm39)	T1796I	probably benign	Het
Ncor1	T	C	11: 62,225,359 (GRCm39)	I747V	probably benign	Het
Nfkb2	C	T	19: 46,298,358 (GRCm39)	T554M	possibly damaging	Het
Nrde2	T	C	12: 100,116,127 (GRCm39)	D119G	probably damaging	Het
Odf2	C	A	2: 29,816,112 (GRCm39)	Q720K	probably benign	Het
Or4c52	T	C	2: 89,846,003 (GRCm39)	V243A	possibly damaging	Het
Or4k41	T	A	2: 111,279,971 (GRCm39)	L162Q	possibly damaging	Het
Or5w1b	C	T	2: 87,475,769 (GRCm39)	E233K	probably benign	Het
Or8k33	T	C	2: 86,383,639 (GRCm39)	I276M	possibly damaging	Het
Pcx	T	C	19: 4,652,034 (GRCm39)	V94A	probably damaging	Het
Pdxdc1	A	T	16: 13,694,030 (GRCm39)	Y131N	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plod2	A	G	9: 92,487,499 (GRCm39)	H606R	probably benign	Het
Ptp4a2	A	G	4: 129,733,237 (GRCm39)		probably benign	Het
Rsl1	A	G	13: 67,330,173 (GRCm39)	E207G	probably damaging	Het
Slc28a3	A	G	13: 58,724,580 (GRCm39)	Y225H	probably damaging	Het
Spag17	T	A	3: 99,929,954 (GRCm39)	M551K	probably benign	Het
Ssh2	C	A	11: 77,312,182 (GRCm39)	A231D	possibly damaging	Het
Stab2	A	G	10: 86,683,887 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,067,174 (GRCm39)	L4291Q	probably benign	Het
Vmn2r38	A	T	7: 9,095,854 (GRCm39)	D179E	probably benign	Het
Zfp597	T	C	16: 3,689,022 (GRCm39)	D51G	probably benign	Het
Zfp64	A	T	2: 168,793,538 (GRCm39)	F69L	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
IGL03025:Stac2	APN	11	97,934,548 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TCACTCTGGGGAGAAACAGG -3'
(R):5'- AGCTCTATGAGACACTGTCTTAAACC -3'

Sequencing Primer
(F):5'- AGGAGGATCAGCCCCTG -3'
(R):5'- TGAGACACTGTCTTAAACCAAATAC -3'

Posted On

2020-09-15