Mutagenetix > Incidental Mutation

Incidental Mutation 'R6414:Snta1'

514843

Institutional Source

Beutler Lab

Gene Symbol

Snta1

Ensembl Gene

ENSMUSG00000027488

Gene Name

syntrophin, acidic 1

Synonyms

alpha1-syntrophin, Snt1

MMRRC Submission

044556-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.555) question?

Stock #

R6414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154218234-154250004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 154219987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 391 (T391S)

Ref Sequence

ENSEMBL: ENSMUSP00000028991 (fasta)

Gene Model

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

AlphaFold

Q61234

PDB Structure

Unexpected Modes of PDZ Domain Scaffolding Revealed by Structure of NNOS-Syntrophin Complex [X-RAY DIFFRACTION]
Solution structure of the PDZ domain of alpha-syntrophin [SOLUTION NMR]
solution structure of the split PH-PDZ Supramodule of alpha-Syntrophin [SOLUTION NMR]
solution structure of the joined PH domain of alpha1-syntrophin [SOLUTION NMR]
SOLUTION STRUCTURE OF THE SYNTROPHIN PDZ DOMAIN IN COMPLEX WITH THE PEPTIDE GVKESLV, NMR, 15 STRUCTURES [SOLUTION NMR]
Crystal structure of the computationally designed NNOS-Syntrophin complex [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028991
AA Change: T391S

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028991
Gene: ENSMUSG00000027488
AA Change: T391S

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

possibly damaging
Transcript: ENSMUST00000109728
AA Change: T387S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105350
Gene: ENSMUSG00000027488
AA Change: T387S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Alpk1	T	C	3: 127,473,858 (GRCm39)	D715G	probably benign	Het
Atg101	T	A	15: 101,188,341 (GRCm39)	C149S	probably benign	Het
Atp2c1	A	T	9: 105,343,855 (GRCm39)	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,710,056 (GRCm39)	A360E	probably damaging	Het
Chd3	A	T	11: 69,243,371 (GRCm39)		probably null	Het
Clcc1	G	A	3: 108,584,167 (GRCm39)	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,769,465 (GRCm39)		probably null	Het
Ctnna3	T	C	10: 64,096,644 (GRCm39)	V394A	probably benign	Het
Ctsll3	A	G	13: 60,948,113 (GRCm39)	F188S	probably damaging	Het
Cyth4	T	C	15: 78,492,346 (GRCm39)	V125A	probably damaging	Het
Ddx43	G	A	9: 78,308,218 (GRCm39)	V131I	probably benign	Het
Elp4	A	G	2: 105,734,788 (GRCm39)	S16P	possibly damaging	Het
Espl1	T	A	15: 102,223,995 (GRCm39)	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,223,935 (GRCm39)	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,748,014 (GRCm39)	V350D	probably damaging	Het
Frem1	A	G	4: 82,858,773 (GRCm39)	F1545S	probably damaging	Het
Gata3	T	A	2: 9,863,245 (GRCm39)	H423L	possibly damaging	Het
Golt1a	A	T	1: 133,248,032 (GRCm39)	M87L	probably damaging	Het
Gpr171	A	T	3: 59,005,544 (GRCm39)	V77E	probably damaging	Het
Hectd2	A	G	19: 36,596,186 (GRCm39)	D757G	probably benign	Het
Hmmr	A	G	11: 40,606,694 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,660,441 (GRCm39)	V635A	possibly damaging	Het
Lama1	T	C	17: 68,053,905 (GRCm39)		probably null	Het
Ltbp4	G	A	7: 27,010,140 (GRCm39)	P1140L	probably damaging	Het
Macf1	A	G	4: 123,386,988 (GRCm39)	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,158,830 (GRCm39)	M1L	probably benign	Het
Mex3d	A	G	10: 80,217,205 (GRCm39)	S671P	unknown	Het
Mrgprb2	C	T	7: 48,202,129 (GRCm39)	V199I	probably benign	Het
Mroh9	A	T	1: 162,902,271 (GRCm39)	V114E	probably damaging	Het
Muc5b	A	G	7: 141,412,834 (GRCm39)	K1927E	unknown	Het
Or4f52	A	C	2: 111,061,497 (GRCm39)		probably null	Het
Or6c35	T	A	10: 129,169,578 (GRCm39)	I276K	probably benign	Het
Otogl	C	T	10: 107,617,911 (GRCm39)	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,021,258 (GRCm39)	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,546,898 (GRCm39)	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 99,904,747 (GRCm39)	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,305,178 (GRCm39)		probably benign	Het
Rap1gap2	A	G	11: 74,296,616 (GRCm39)	L457P	probably damaging	Het
Rasef	C	T	4: 73,658,818 (GRCm39)	V463M	probably benign	Het
Rb1	T	C	14: 73,520,414 (GRCm39)	S42G	unknown	Het
Reep3	C	A	10: 66,875,356 (GRCm39)	V36F	probably damaging	Het
Rhcg	A	G	7: 79,248,716 (GRCm39)		probably null	Het
Sbno1	T	C	5: 124,533,994 (GRCm39)	S661G	probably benign	Het
Slc25a3	T	G	10: 90,958,190 (GRCm39)	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,228,008 (GRCm39)	I395F	probably benign	Het
Slc6a5	C	T	7: 49,559,991 (GRCm39)		probably benign	Het
Spata7	T	C	12: 98,629,479 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,158,809 (GRCm39)		probably null	Het
Terf2	A	T	8: 107,803,486 (GRCm39)	S365T	probably benign	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trim8	A	T	19: 46,491,346 (GRCm39)	H155L	probably benign	Het
Wipi2	T	A	5: 142,641,693 (GRCm39)	V83D	probably damaging	Het
Zbtb47	T	G	9: 121,592,725 (GRCm39)	D348E	probably benign	Het
Zfp316	C	A	5: 143,240,639 (GRCm39)	R460L	possibly damaging	Het
Zfp799	C	T	17: 33,039,259 (GRCm39)	V336M	probably damaging	Het
Zfp947	A	T	17: 22,365,395 (GRCm39)	I93N	probably damaging	Het
Zranb3	A	G	1: 127,968,694 (GRCm39)	Y74H	probably benign	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
R5330:Snta1	UTSW	2	154,219,940 (GRCm39)	nonsense	probably null
R6180:Snta1	UTSW	2	154,219,102 (GRCm39)	missense	probably benign	0.03
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'- TCCTCCCAGAGCATCTGCATAC -3'
(R):5'- GAAGGATGCAGGTCTTTGCC -3'

Sequencing Primer
(F):5'- GCATCTGCATACCCCAGATAGGG -3'
(R):5'- CAGGTCTTTGCCCCGGC -3'

Posted On

2018-05-04