Mutagenetix > Incidental Mutation

Incidental Mutation 'R8690:Stac3'

668324

Institutional Source

Beutler Lab

Gene Symbol

Stac3

Ensembl Gene

ENSMUSG00000040287

Gene Name

SH3 and cysteine rich domain 3

Synonyms

MMRRC Submission

068544-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8690 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127337555-127344692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127339494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 130 (C130Y)

Ref Sequence

ENSEMBL: ENSMUSP00000048148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035839] [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000160019] [ENSMUST00000160610] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000169888] [ENSMUST00000170336]

AlphaFold

Q8BZ71

Predicted Effect

probably damaging
Transcript: ENSMUST00000035839
AA Change: C130Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048148
Gene: ENSMUSG00000040287
AA Change: C130Y

Domain	Start	End	E-Value	Type
low complexity region	35	46	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
C1	89	139	2.19e-7	SMART
low complexity region	199	213	N/A	INTRINSIC
low complexity region	220	238	N/A	INTRINSIC
SH3	246	301	1.41e-16	SMART
SH3	305	360	8.45e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064793

SMART Domains

Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	442	457	N/A	INTRINSIC
low complexity region	699	730	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077046

SMART Domains

Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	7.4e-14	PFAM
low complexity region	338	350	N/A	INTRINSIC
low complexity region	430	461	N/A	INTRINSIC
low complexity region	474	499	N/A	INTRINSIC
low complexity region	744	775	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105249

SMART Domains

Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.4e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	692	723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105250

SMART Domains

Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.6e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	456	481	N/A	INTRINSIC
low complexity region	726	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105251

SMART Domains

Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.6e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	456	481	N/A	INTRINSIC
low complexity region	726	757	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160019
AA Change: C130Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125124
Gene: ENSMUSG00000040287
AA Change: C130Y

Domain	Start	End	E-Value	Type
low complexity region	35	46	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
C1	89	139	2.19e-7	SMART
low complexity region	199	213	N/A	INTRINSIC
low complexity region	220	238	N/A	INTRINSIC
SH3	246	301	1.41e-16	SMART
SH3	305	360	8.45e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160610

Predicted Effect

probably benign
Transcript: ENSMUST00000164161

SMART Domains

Protein: ENSMUSP00000126185
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164831

SMART Domains

Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	678	709	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166820

SMART Domains

Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.7e-12	PFAM
low complexity region	338	350	N/A	INTRINSIC
low complexity region	430	461	N/A	INTRINSIC
low complexity region	474	499	N/A	INTRINSIC
low complexity region	744	775	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169888

SMART Domains

Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
Pfam:SUZ	7	54	4.7e-12	PFAM
low complexity region	71	83	N/A	INTRINSIC
low complexity region	163	194	N/A	INTRINSIC
low complexity region	443	474	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170336

SMART Domains

Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	442	467	N/A	INTRINSIC
low complexity region	712	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171426

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to neonatal lethality, abnormal posture, thin diaphragm muscle, abnormal skeletal muscle morphology characterized by centralized nuclei and disorganized myofibrils, and impaired skeletal muscle contractility due to defective excitation-contraction coupling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	T	A	12: 55,107,957 (GRCm39)	T81S	possibly damaging	Het
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Acbd5	T	A	2: 22,979,710 (GRCm39)	S210T	probably benign	Het
Adam10	T	A	9: 70,655,505 (GRCm39)	F324L	probably damaging	Het
Ak6	A	G	13: 100,791,857 (GRCm39)	N100S	possibly damaging	Het
Angptl3	G	T	4: 98,925,759 (GRCm39)	V362L	probably benign	Het
Ano9	C	A	7: 140,684,220 (GRCm39)	W514L	probably benign	Het
Asb8	T	C	15: 98,034,108 (GRCm39)	Y149C	probably damaging	Het
Bcl6b	C	A	11: 70,117,447 (GRCm39)	A392S	probably damaging	Het
Cad	T	A	5: 31,232,500 (GRCm39)	I1855N	possibly damaging	Het
Calm5	G	A	13: 3,904,277 (GRCm39)	G4R	probably damaging	Het
Carm1	T	C	9: 21,480,808 (GRCm39)	V94A	probably damaging	Het
Ccnl1	A	T	3: 65,855,165 (GRCm39)	S399R	possibly damaging	Het
Cdh17	T	A	4: 11,783,163 (GRCm39)	I168N	probably benign	Het
Ces2g	C	T	8: 105,693,605 (GRCm39)	R429C	probably benign	Het
Chd3	T	C	11: 69,246,648 (GRCm39)		probably benign	Het
Cmtr2	T	A	8: 110,948,977 (GRCm39)	M429K	probably benign	Het
Cnga1	T	G	5: 72,761,835 (GRCm39)	I560L	probably benign	Het
Col6a5	A	G	9: 105,759,796 (GRCm39)	Y1975H	probably damaging	Het
Copb1	T	C	7: 113,849,463 (GRCm39)	I47V	probably benign	Het
Crbn	G	A	6: 106,777,010 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,680,939 (GRCm39)	L324P	probably damaging	Het
Dhx57	A	G	17: 80,577,794 (GRCm39)		probably benign	Het
Dlgap2	A	T	8: 14,793,430 (GRCm39)	I475F	probably benign	Het
Dock2	T	A	11: 34,618,287 (GRCm39)	K110*	probably null	Het
Dpp7	T	C	2: 25,245,645 (GRCm39)	D147G	probably damaging	Het
Dync2h1	G	T	9: 7,075,824 (GRCm39)	D3014E	probably damaging	Het
Efcab5	A	T	11: 76,994,115 (GRCm39)	F1291I	probably damaging	Het
Endov	T	A	11: 119,382,736 (GRCm39)	V61D	probably benign	Het
Etv3	C	A	3: 87,443,786 (GRCm39)	P457T	possibly damaging	Het
Fam185a	T	A	5: 21,638,766 (GRCm39)	H199Q	probably benign	Het
Fat3	T	A	9: 15,878,397 (GRCm39)	E3361D	probably benign	Het
Fbn1	T	C	2: 125,186,015 (GRCm39)		probably benign	Het
Gm17079	A	T	14: 51,932,787 (GRCm39)	W37R		Het
Gpr68	T	C	12: 100,845,292 (GRCm39)	H84R	probably benign	Het
Gramd1b	A	T	9: 40,215,674 (GRCm39)	S725R	probably damaging	Het
Greb1	T	A	12: 16,746,548 (GRCm39)	T1241S	probably benign	Het
Hcn4	T	C	9: 58,751,193 (GRCm39)	M273T	probably benign	Het
Hdlbp	A	G	1: 93,341,640 (GRCm39)	V973A	probably damaging	Het
Ighv8-11	A	T	12: 115,531,164 (GRCm39)		probably benign	Het
Itpkb	A	T	1: 180,249,346 (GRCm39)	Q907L	probably benign	Het
Lmo7	T	A	14: 102,168,644 (GRCm39)	N1634K	unknown	Het
Lrrk1	C	A	7: 65,952,477 (GRCm39)	L486F	probably benign	Het
Mdfic	G	A	6: 15,799,653 (GRCm39)	C260Y	probably damaging	Het
Mdh2	T	C	5: 135,814,882 (GRCm39)	I140T	probably benign	Het
Myo9a	T	C	9: 59,782,657 (GRCm39)	V1775A	probably benign	Het
Or1j14	T	C	2: 36,418,207 (GRCm39)	V261A	probably benign	Het
Or51d1	C	A	7: 102,348,028 (GRCm39)	D194E	probably damaging	Het
Or52n3	T	C	7: 104,530,762 (GRCm39)	Y283H	probably damaging	Het
P2rx2	C	T	5: 110,490,380 (GRCm39)	V112I	probably damaging	Het
Psme4	T	A	11: 30,787,319 (GRCm39)	V1038E	probably benign	Het
Rab25	T	A	3: 88,452,388 (GRCm39)	R73S	probably damaging	Het
Rab8a	TA	TAA	8: 72,925,130 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,308,955 (GRCm39)	Y729H		Het
Rnf213	A	G	11: 119,332,038 (GRCm39)	T2417A		Het
Rnft2	C	A	5: 118,366,935 (GRCm39)	A268S	probably benign	Het
Samhd1	T	C	2: 156,971,794 (GRCm39)	D116G	probably benign	Het
Sema6d	T	A	2: 124,506,937 (GRCm39)	V915E	probably benign	Het
Sp140l2	G	A	1: 85,235,170 (GRCm39)	H130Y	probably benign	Het
Srcin1	C	A	11: 97,414,368 (GRCm39)	R1045L	probably damaging	Het
St18	T	A	1: 6,872,788 (GRCm39)	N174K	probably benign	Het
Stum	G	C	1: 180,310,740 (GRCm39)	P52R	probably damaging	Het
Tbc1d2	C	T	4: 46,615,106 (GRCm39)	E526K	possibly damaging	Het
Tiam1	A	G	16: 89,694,900 (GRCm39)	S186P	probably damaging	Het
Tiparp	G	C	3: 65,460,963 (GRCm39)	V651L	probably benign	Het
Tmem19	C	T	10: 115,179,765 (GRCm39)	G244S	probably damaging	Het
Trip11	A	T	12: 101,839,656 (GRCm39)	V1658D	possibly damaging	Het
Ttyh3	A	C	5: 140,612,944 (GRCm39)	Y453D	probably damaging	Het
Ttyh3	G	T	5: 140,612,945 (GRCm39)	S452R	probably benign	Het
Ube2h	C	T	6: 30,262,338 (GRCm39)		probably benign	Het
Zbtb4	T	C	11: 69,667,618 (GRCm39)	S308P	probably damaging	Het
Zfyve1	T	C	12: 83,597,681 (GRCm39)	E672G	probably damaging	Het
Zswim5	G	A	4: 116,842,002 (GRCm39)	D861N	probably damaging	Het

Other mutations in Stac3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Stac3	APN	10	127,339,533 (GRCm39)	missense	probably damaging	1.00
IGL02271:Stac3	APN	10	127,339,768 (GRCm39)	missense	probably benign	0.00
R0051:Stac3	UTSW	10	127,344,017 (GRCm39)	missense	probably damaging	0.98
R0090:Stac3	UTSW	10	127,339,799 (GRCm39)	unclassified	probably benign
R0131:Stac3	UTSW	10	127,339,519 (GRCm39)	missense	probably damaging	0.97
R0131:Stac3	UTSW	10	127,339,519 (GRCm39)	missense	probably damaging	0.97
R0132:Stac3	UTSW	10	127,339,519 (GRCm39)	missense	probably damaging	0.97
R0330:Stac3	UTSW	10	127,343,616 (GRCm39)	splice site	probably null
R0630:Stac3	UTSW	10	127,343,632 (GRCm39)	missense	probably damaging	1.00
R1132:Stac3	UTSW	10	127,343,128 (GRCm39)	missense	probably benign
R1450:Stac3	UTSW	10	127,340,754 (GRCm39)	missense	probably damaging	1.00
R1739:Stac3	UTSW	10	127,343,635 (GRCm39)	missense	probably benign	0.40
R2316:Stac3	UTSW	10	127,339,229 (GRCm39)	splice site	probably null
R2511:Stac3	UTSW	10	127,339,787 (GRCm39)	critical splice donor site	probably null
R3000:Stac3	UTSW	10	127,344,016 (GRCm39)	missense	probably benign	0.01
R4324:Stac3	UTSW	10	127,339,118 (GRCm39)	missense	probably damaging	0.99
R4758:Stac3	UTSW	10	127,339,214 (GRCm39)	missense	possibly damaging	0.95
R5040:Stac3	UTSW	10	127,343,993 (GRCm39)	missense	probably damaging	0.98
R6244:Stac3	UTSW	10	127,344,044 (GRCm39)	missense	probably damaging	1.00
R6275:Stac3	UTSW	10	127,343,615 (GRCm39)	nonsense	probably null
R7335:Stac3	UTSW	10	127,340,769 (GRCm39)	missense	probably benign	0.22
R8191:Stac3	UTSW	10	127,344,068 (GRCm39)	missense	probably damaging	1.00
R8290:Stac3	UTSW	10	127,339,229 (GRCm39)	splice site	probably null
R8410:Stac3	UTSW	10	127,339,199 (GRCm39)	missense	probably damaging	1.00
R8799:Stac3	UTSW	10	127,340,781 (GRCm39)	missense	probably damaging	0.98
R9008:Stac3	UTSW	10	127,339,454 (GRCm39)	missense	probably damaging	1.00
R9095:Stac3	UTSW	10	127,343,584 (GRCm39)	missense	probably damaging	1.00
R9594:Stac3	UTSW	10	127,338,654 (GRCm39)	start codon destroyed	probably null	0.53
R9759:Stac3	UTSW	10	127,344,083 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TATGAAAGCGCTGAGGTTGAC -3'
(R):5'- ACGGGTACTTACAGACAGCG -3'

Sequencing Primer
(F):5'- GCGCTGAGGTTGACAGTAG -3'
(R):5'- GCTATAGGCCCGACGGAAAC -3'

Posted On

2021-04-30