Mutagenetix > Incidental Mutation

Incidental Mutation 'R8191:Stac3'

635170

Institutional Source

Beutler Lab

Gene Symbol

Stac3

Ensembl Gene

ENSMUSG00000040287

Gene Name

SH3 and cysteine rich domain 3

Synonyms

MMRRC Submission

067614-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8191 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127337555-127344692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127344068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 322 (I322N)

Ref Sequence

ENSEMBL: ENSMUSP00000048148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035839] [ENSMUST00000160019]

AlphaFold

Q8BZ71

Predicted Effect

probably damaging
Transcript: ENSMUST00000035839
AA Change: I322N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048148
Gene: ENSMUSG00000040287
AA Change: I322N

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 damaging
Transcript: ENSMUST00000160019
AA Change: I322N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125124
Gene: ENSMUSG00000040287
AA Change: I322N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	G	A	16: 3,724,918 (GRCm39)	R49W	probably damaging	Het
Adamts4	T	C	1: 171,080,292 (GRCm39)	S282P		Het
Aqp4	A	G	18: 15,531,222 (GRCm39)	S180P	probably benign	Het
Armc2	T	G	10: 41,839,747 (GRCm39)	E406A	probably benign	Het
Atp13a3	A	T	16: 30,168,598 (GRCm39)	Y464N	probably damaging	Het
B3gnt3	C	A	8: 72,146,122 (GRCm39)	V136L	probably benign	Het
Cacna1s	C	T	1: 136,035,893 (GRCm39)	H1378Y	probably damaging	Het
Ccnk	A	T	12: 108,159,933 (GRCm39)	E138D	probably benign	Het
Cenpe	A	G	3: 134,957,375 (GRCm39)	K1878E	probably benign	Het
Cep57l1	T	A	10: 41,616,955 (GRCm39)	I111L	probably damaging	Het
Cfap298	G	T	16: 90,727,889 (GRCm39)	N100K	probably damaging	Het
Copg2	T	C	6: 30,790,665 (GRCm39)	I509V	probably benign	Het
Cux2	T	A	5: 122,012,217 (GRCm39)	D406V	probably benign	Het
Cyp2a12	G	T	7: 26,730,529 (GRCm39)	A165S	probably benign	Het
Dnaaf5	T	G	5: 139,167,250 (GRCm39)	S719A	probably benign	Het
Dnah7c	A	G	1: 46,646,618 (GRCm39)	I1220V	possibly damaging	Het
Dnai3	G	T	3: 145,800,066 (GRCm39)	P158H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dusp10	T	A	1: 183,769,749 (GRCm39)	D238E	possibly damaging	Het
Dync1li1	C	A	9: 114,538,253 (GRCm39)	D203E	probably benign	Het
Ecpas	A	T	4: 58,872,587 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,075,283 (GRCm39)	S587P	probably damaging	Het
Ephb2	G	A	4: 136,386,256 (GRCm39)	T832I	probably damaging	Het
Exoc1	T	A	5: 76,707,674 (GRCm39)		probably null	Het
Fam193a	T	A	5: 34,597,917 (GRCm39)	N571K	probably damaging	Het
Fem1a	T	A	17: 56,565,356 (GRCm39)	I483N	probably damaging	Het
Fgf20	C	A	8: 40,761,361 (GRCm39)		probably benign	Het
Fkbp1a	C	T	2: 151,399,356 (GRCm39)	P98S		Het
Gpsm3	A	T	17: 34,809,451 (GRCm39)	D19V	probably benign	Het
Ido2	C	A	8: 25,023,696 (GRCm39)	G381W	probably damaging	Het
Ifi204	T	C	1: 173,579,226 (GRCm39)	T540A	possibly damaging	Het
Isl1	A	T	13: 116,441,954 (GRCm39)	M93K	probably benign	Het
Map3k10	T	A	7: 27,362,671 (GRCm39)	S472C	probably damaging	Het
Mcrs1	A	T	15: 99,141,206 (GRCm39)	V432E	probably damaging	Het
Metap2	A	G	10: 93,701,267 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,421,421 (GRCm39)	S4304G	probably benign	Het
Myef2l	G	T	3: 10,153,914 (GRCm39)	V228F	probably damaging	Het
Nell1	T	C	7: 50,098,622 (GRCm39)	V308A	unknown	Het
Or10g1b	A	G	14: 52,627,987 (GRCm39)	V81A	probably benign	Het
Or4d5	A	T	9: 40,012,767 (GRCm39)	H6Q	probably benign	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Pnpla6	T	C	8: 3,592,382 (GRCm39)	S1224P	probably benign	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rnpep	T	C	1: 135,200,172 (GRCm39)	E261G	possibly damaging	Het
Robo1	C	A	16: 72,730,142 (GRCm39)	S194R	probably damaging	Het
Rpusd1	C	G	17: 25,947,611 (GRCm39)	Y99*	probably null	Het
Scarf1	T	C	11: 75,413,065 (GRCm39)	M437T	probably benign	Het
Sh3tc2	G	T	18: 62,106,429 (GRCm39)	D153Y	probably damaging	Het
Siglec1	T	C	2: 130,927,599 (GRCm39)	Y69C	probably damaging	Het
Slc25a34	T	C	4: 141,347,895 (GRCm39)	Y262C	probably damaging	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
St6galnac2	T	C	11: 116,572,748 (GRCm39)	Y236C	probably damaging	Het
Tcaf1	T	C	6: 42,652,190 (GRCm39)	Q764R	probably damaging	Het
Tcf20	G	A	15: 82,737,606 (GRCm39)	R1282*	probably null	Het
Tlr2	T	A	3: 83,743,821 (GRCm39)	K754M	probably damaging	Het
Tlr2	T	G	3: 83,743,822 (GRCm39)	K754Q	probably damaging	Het
Tnn	C	T	1: 159,953,088 (GRCm39)	V651M	probably damaging	Het
Ttn	T	C	2: 76,701,083 (GRCm39)	H9622R	unknown	Het
Tubgcp6	C	T	15: 89,004,843 (GRCm39)	G259S	probably damaging	Het
Ubr5	C	A	15: 38,006,751 (GRCm39)	C1174F		Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vit	C	T	17: 78,853,828 (GRCm39)	H25Y	probably benign	Het
Vmn1r177	G	A	7: 23,565,736 (GRCm39)	Q47*	probably null	Het
Vmn2r104	A	T	17: 20,250,465 (GRCm39)	V602D	possibly damaging	Het
Vmn2r115	A	G	17: 23,578,530 (GRCm39)	T668A	probably damaging	Het
Vmn2r125	T	G	4: 156,703,709 (GRCm39)	C362W	probably damaging	Het
Vwa7	A	G	17: 35,238,712 (GRCm39)	T267A	probably damaging	Het
Xpa	C	A	4: 46,183,225 (GRCm39)	R188L	possibly damaging	Het
Zfp143	C	T	7: 109,676,364 (GRCm39)	T249I	probably damaging	Het
Zfp607a	A	G	7: 27,578,868 (GRCm39)	E646G	possibly damaging	Het
Zfp729a	A	T	13: 67,769,838 (GRCm39)	S130R	probably benign	Het
Zswim3	C	A	2: 164,662,128 (GRCm39)	Q203K	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
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

PCR Primer
(F):5'- TGGGCAGTCTAGAACCTGAG -3'
(R):5'- GTAGACCTTGACGTAACCACCAG -3'

Sequencing Primer
(F):5'- GGCAGTCTAGAACCTGAGATCTC -3'
(R):5'- CTGCACTACGATCTAGGGGTTTAAAG -3'

Posted On

2020-07-13