Mutagenetix > Incidental Mutation

Incidental Mutation 'R5330:Snta1'

423114

Institutional Source

Beutler Lab

Gene Symbol

Snta1

Ensembl Gene

ENSMUSG00000027488

Gene Name

syntrophin, acidic 1

Synonyms

alpha1-syntrophin, Snt1

MMRRC Submission

042912-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

R5330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154218234-154250004 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 154219940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 403 (E403*)

Ref Sequence

ENSEMBL: ENSMUSP00000105350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028991] [ENSMUST00000109728]

AlphaFold

Q61234

Predicted Effect

probably null
Transcript: ENSMUST00000028991
AA Change: E407*

SMART Domains

Protein: ENSMUSP00000028991
Gene: ENSMUSG00000027488
AA Change: E407*

Domain	Start	End	E-Value	Type
PH	7	265	1.24e0	SMART
PDZ	90	164	1.88e-19	SMART
PH	288	401	1.4e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109728
AA Change: E403*

SMART Domains

Protein: ENSMUSP00000105350
Gene: ENSMUSG00000027488
AA Change: E403*

Domain	Start	End	E-Value	Type
PH	7	265	1.24e0	SMART
PDZ	90	164	1.88e-19	SMART
PH	288	397	1.63e-4	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a targeted null allele display impaired astrocyte and neuromuscular synapse morphology. Mice homozygous for another targeted null allele show neither gross histological abnormalities in skeletal muscle nor significant changes in muscle contractile properties. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Abca16	T	A	7: 120,102,600 (GRCm39)	I833N	probably benign	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Aktip	A	T	8: 91,853,352 (GRCm39)	F122I	probably damaging	Het
Ankrd27	T	A	7: 35,315,351 (GRCm39)	L500*	probably null	Het
Blm	T	C	7: 80,108,684 (GRCm39)	E55G	possibly damaging	Het
Carmil1	A	T	13: 24,209,929 (GRCm39)		probably null	Het
Cdca7	T	C	2: 72,315,042 (GRCm39)	C311R	probably damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctnnd2	C	T	15: 30,332,261 (GRCm39)	T48I	probably damaging	Het
Cyp2b10	T	A	7: 25,613,414 (GRCm39)	Y203*	probably null	Het
Dchs1	A	T	7: 105,403,809 (GRCm39)	V2911E	probably damaging	Het
Dnah12	G	A	14: 26,495,787 (GRCm39)	E1472K	probably damaging	Het
Dnah3	T	C	7: 119,542,871 (GRCm39)	T3514A	probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm10313	T	A	8: 46,708,490 (GRCm39)		noncoding transcript	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377 (GRCm39)	T211A	probably benign	Het
Herc4	G	T	10: 63,143,578 (GRCm39)	E703*	probably null	Het
Hivep2	A	G	10: 14,007,164 (GRCm39)	K1254R	probably damaging	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Lct	A	T	1: 128,226,266 (GRCm39)	D1374E	probably benign	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mark4	G	A	7: 19,170,908 (GRCm39)	P321S	probably damaging	Het
Med18	A	G	4: 132,190,377 (GRCm39)		probably benign	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nob1	T	G	8: 108,142,881 (GRCm39)	T267P	probably damaging	Het
Nos3	A	G	5: 24,574,902 (GRCm39)	E307G	probably damaging	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Pcdh17	T	A	14: 84,770,486 (GRCm39)	V988E	probably damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Phlpp2	A	G	8: 110,660,667 (GRCm39)	D774G	probably damaging	Het
Pibf1	T	C	14: 99,378,082 (GRCm39)	Y403H	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Ptprk	A	T	10: 28,463,076 (GRCm39)	D189V	probably damaging	Het
Relb	C	T	7: 19,340,630 (GRCm39)	G509S	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Sel1l3	A	T	5: 53,343,351 (GRCm39)	Y314N	possibly damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Spata31d1a	A	T	13: 59,848,217 (GRCm39)	C1304S	possibly damaging	Het
Srebf2	T	A	15: 82,080,409 (GRCm39)	I834N	possibly damaging	Het
Steap1	G	T	5: 5,790,422 (GRCm39)	H175Q	probably damaging	Het
Sult2a8	T	C	7: 14,147,679 (GRCm39)	E204G	possibly damaging	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tecta	A	C	9: 42,249,152 (GRCm39)	D1903E	probably damaging	Het
Tmem222	A	C	4: 133,004,935 (GRCm39)	M34R	possibly damaging	Het
Tnik	A	G	3: 28,596,167 (GRCm39)	T187A	probably damaging	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,637,266 (GRCm39)	R358C	probably benign	Het
Ttll13	T	C	7: 79,910,257 (GRCm39)	V800A	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Vmn2r58	G	A	7: 41,513,384 (GRCm39)	Q420*	probably null	Het
Zranb3	G	A	1: 127,887,457 (GRCm39)	P990L	probably damaging	Het
Zswim9	T	A	7: 12,993,912 (GRCm39)	D748V	probably damaging	Het

Other mutations in Snta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02928:Snta1	APN	2	154,222,959 (GRCm39)	missense	probably benign
R0080:Snta1	UTSW	2	154,225,757 (GRCm39)	missense	probably benign	0.02
R0631:Snta1	UTSW	2	154,218,992 (GRCm39)	missense	probably benign	0.00
R0760:Snta1	UTSW	2	154,222,860 (GRCm39)	missense	probably damaging	0.97
R1545:Snta1	UTSW	2	154,218,926 (GRCm39)	critical splice donor site	probably null
R4584:Snta1	UTSW	2	154,220,035 (GRCm39)	missense	probably benign	0.00
R4910:Snta1	UTSW	2	154,218,938 (GRCm39)	nonsense	probably null
R6180:Snta1	UTSW	2	154,219,102 (GRCm39)	missense	probably benign	0.03
R6414:Snta1	UTSW	2	154,219,987 (GRCm39)	missense	possibly damaging	0.80
R6468:Snta1	UTSW	2	154,219,069 (GRCm39)	missense	probably damaging	0.99
R7070:Snta1	UTSW	2	154,222,979 (GRCm39)	missense	probably benign
R7394:Snta1	UTSW	2	154,218,780 (GRCm39)	missense	probably damaging	1.00
R7857:Snta1	UTSW	2	154,225,817 (GRCm39)	missense	probably benign	0.00
R8153:Snta1	UTSW	2	154,222,722 (GRCm39)	missense	probably damaging	0.98
R9013:Snta1	UTSW	2	154,245,809 (GRCm39)	missense	probably damaging	0.96
R9128:Snta1	UTSW	2	154,222,856 (GRCm39)	missense	probably benign	0.03
R9759:Snta1	UTSW	2	154,222,889 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAGAAGAAATGTCTCCCTTCCTC -3'
(R):5'- AAGGATGCAGGTCTTTGCCC -3'

Sequencing Primer
(F):5'- GAAATGTCTCCCTTCCTCCCAGAG -3'
(R):5'- ACACAGGCTGGTGCACTCAG -3'

Posted On

2016-08-04