Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Stac3'

500137

Institutional Source

Beutler Lab

Gene Symbol

Stac3

Ensembl Gene

ENSMUSG00000040287

Gene Name

SH3 and cysteine rich domain 3

Synonyms

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0131 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

127337555-127344692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127339519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 138 (R138S)

Ref Sequence

ENSEMBL: ENSMUSP00000125124 (fasta)

Gene Model

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

AlphaFold

Q8BZ71

Predicted Effect

probably damaging
Transcript: ENSMUST00000035839
AA Change: R138S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048148
Gene: ENSMUSG00000040287
AA Change: R138S

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: R138S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125124
Gene: ENSMUSG00000040287
AA Change: R138S

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

noncoding transcript
Transcript: ENSMUST00000160760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162302

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: 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: 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: 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: ENSMUST00000171426

Meta Mutation Damage Score

0.1979

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,833,115 (GRCm39)	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,651,114 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bicd1	A	G	6: 149,414,445 (GRCm39)	E386G	probably damaging	Het
Bmal2	C	A	6: 146,729,601 (GRCm39)	H471N	probably benign	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cacna1c	T	C	6: 118,602,473 (GRCm39)	I1428V	probably damaging	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Cldnd1	T	C	16: 58,553,355 (GRCm39)	L232P	probably damaging	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Col3a1	T	A	1: 45,368,028 (GRCm39)		probably benign	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Cyc1	G	A	15: 76,229,159 (GRCm39)	V142I	probably benign	Het
Dapk3	A	G	10: 81,028,141 (GRCm39)	T265A	probably benign	Het
Ddx21	A	T	10: 62,420,531 (GRCm39)	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,188,717 (GRCm39)	L1735Q	probably damaging	Het
Dse	A	G	10: 34,029,660 (GRCm39)	Y341H	probably damaging	Het
Elmod2	A	G	8: 84,046,133 (GRCm39)	I148T	probably damaging	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659 (GRCm39)	D98G	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Fcrl2	A	G	3: 87,166,266 (GRCm39)	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,821,465 (GRCm39)	D5733N	probably benign	Het
Gbe1	T	C	16: 70,157,740 (GRCm39)		probably benign	Het
Gm6327	T	C	16: 12,578,909 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Idi2l	T	A	13: 8,990,563 (GRCm39)		probably benign	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Kmt2b	A	T	7: 30,283,346 (GRCm39)	C296S	probably damaging	Het
Lgals4	A	G	7: 28,533,657 (GRCm39)		probably null	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Mylk	T	C	16: 34,695,874 (GRCm39)	V203A	probably benign	Het
Myom2	A	G	8: 15,133,329 (GRCm39)	N407S	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2t6	T	C	14: 14,175,620 (GRCm38)	D154G	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pate3	A	G	9: 35,557,453 (GRCm39)	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,006,440 (GRCm39)	D106G	probably null	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Proc	C	T	18: 32,268,951 (GRCm39)	M11I	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Psg21	A	G	7: 18,388,793 (GRCm39)	Y100H	probably benign	Het
Pten	T	A	19: 32,753,469 (GRCm39)	V45E	probably benign	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rab7b	T	C	1: 131,626,293 (GRCm39)	L107P	probably damaging	Het
Rbm47	T	A	5: 66,183,872 (GRCm39)	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,496,170 (GRCm39)	G122C	probably damaging	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc12a3	G	A	8: 95,067,511 (GRCm39)		probably benign	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Spg11	T	C	2: 121,901,449 (GRCm39)	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Tet3	C	G	6: 83,345,770 (GRCm39)	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,280,682 (GRCm39)	S693P	probably benign	Het
Tmcc2	C	T	1: 132,308,444 (GRCm39)	G150D	probably benign	Het
Tmem216	T	C	19: 10,531,970 (GRCm39)	Y44C	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ubr4	A	G	4: 139,191,362 (GRCm39)	T4127A	possibly damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Wrnip1	G	A	13: 32,990,847 (GRCm39)	V369I	probably damaging	Het
Zc3h12c	T	A	9: 52,037,923 (GRCm39)	I305F	possibly damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	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
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
R8690:Stac3	UTSW	10	127,339,494 (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

Posted On

2017-12-01