Incidental Mutation 'R9128:Snta1'
ID 693384
Institutional Source Beutler Lab
Gene Symbol Snta1
Ensembl Gene ENSMUSG00000027488
Gene Name syntrophin, acidic 1
Synonyms alpha1-syntrophin, Snt1
MMRRC Submission 068927-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.555) question?
Stock # R9128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 154218234-154250004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154222856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 289 (K289R)
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 probably benign
Transcript: ENSMUST00000028991
AA Change: K289R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028991
Gene: ENSMUSG00000027488
AA Change: K289R

DomainStartEndE-ValueType
PH 7 265 1.24e0 SMART
PDZ 90 164 1.88e-19 SMART
PH 288 401 1.4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109728
AA Change: K289R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105350
Gene: ENSMUSG00000027488
AA Change: K289R

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,838,352 (GRCm39) V542A possibly damaging Het
Abhd8 G T 8: 71,914,389 (GRCm39) R80S probably benign Het
Actc1 T C 2: 113,880,946 (GRCm39) Y93C possibly damaging Het
Actn4 G T 7: 28,593,929 (GRCm39) D859E possibly damaging Het
Adcy2 C T 13: 68,773,927 (GRCm39) G1039R probably damaging Het
Als2 A G 1: 59,219,709 (GRCm39) M1202T probably benign Het
Aste1 T A 9: 105,273,908 (GRCm39) Y49* probably null Het
Atp8b4 T C 2: 126,234,750 (GRCm39) D422G probably benign Het
Bag6 T A 17: 35,363,688 (GRCm39) S791T probably damaging Het
Bivm T A 1: 44,167,949 (GRCm39) W222R probably null Het
Bod1l A C 5: 41,946,266 (GRCm39) V3003G probably benign Het
Bsn T C 9: 107,993,349 (GRCm39) D801G probably benign Het
Ccdc14 G A 16: 34,527,159 (GRCm39) D403N probably damaging Het
Cenpj T A 14: 56,780,319 (GRCm39) E964V probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Clca3a1 G A 3: 144,463,795 (GRCm39) R161W probably damaging Het
Dcxr A T 11: 120,617,372 (GRCm39) V57E Het
Dnah17 T G 11: 117,937,004 (GRCm39) N3400T possibly damaging Het
Dnaja3 C T 16: 4,520,164 (GRCm39) T444I possibly damaging Het
Dop1a T C 9: 86,395,208 (GRCm39) S772P probably benign Het
Ednrb T C 14: 104,080,528 (GRCm39) N129D probably damaging Het
Ep300 T A 15: 81,533,946 (GRCm39) M2001K unknown Het
Fam3b A G 16: 97,302,200 (GRCm39) I8T probably benign Het
Fam98c A T 7: 28,854,115 (GRCm39) S85T Het
Fat1 G A 8: 45,462,878 (GRCm39) V1232I probably benign Het
Fzd3 T A 14: 65,449,626 (GRCm39) Y484F probably damaging Het
H3f3a T C 1: 180,630,660 (GRCm39) I131M possibly damaging Het
Ifi206 A T 1: 173,299,022 (GRCm39) D861E unknown Het
Ihh T C 1: 74,985,498 (GRCm39) Y329C probably damaging Het
Jak2 A G 19: 29,278,462 (GRCm39) N909D probably damaging Het
Krtap12-1 C A 10: 77,556,623 (GRCm39) C55* probably null Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mreg T C 1: 72,231,216 (GRCm39) T81A probably benign Het
Muc16 T C 9: 18,558,878 (GRCm39) T2472A unknown Het
Nanos3 A T 8: 84,903,080 (GRCm39) D27E probably benign Het
Nox3 T G 17: 3,720,136 (GRCm39) S350R probably damaging Het
Or4m1 A G 14: 50,558,214 (GRCm39) V26A probably benign Het
Or8k18 T A 2: 86,086,022 (GRCm39) N5I probably damaging Het
Pafah2 C T 4: 134,147,281 (GRCm39) T310M probably damaging Het
Pals1 A G 12: 78,843,832 (GRCm39) E12G probably benign Het
Pianp A G 6: 124,977,658 (GRCm39) I185V probably benign Het
Pja2 T C 17: 64,616,470 (GRCm39) T142A probably benign Het
Poln G A 5: 34,171,658 (GRCm39) P747L probably damaging Het
Pramel25 T A 4: 143,520,178 (GRCm39) S141T probably benign Het
Rdx T A 9: 51,976,179 (GRCm39) L39* probably null Het
Rnf146 A G 10: 29,223,539 (GRCm39) W116R probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sec24d A G 3: 123,087,810 (GRCm39) T224A probably benign Het
Serpinb9 T A 13: 33,190,686 (GRCm39) I54K possibly damaging Het
Slc25a13 A T 6: 6,109,987 (GRCm39) L324Q probably null Het
Slc9c1 T C 16: 45,400,490 (GRCm39) L700P probably benign Het
Sppl2a A G 2: 126,765,393 (GRCm39) F243S probably damaging Het
Syne1 T C 10: 5,058,556 (GRCm39) E7319G probably benign Het
Taf5l G A 8: 124,730,014 (GRCm39) P225L probably benign Het
Tet2 A T 3: 133,175,374 (GRCm39) N1324K possibly damaging Het
Usp5 A T 6: 124,800,414 (GRCm39) probably null Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vps16 A G 2: 130,266,319 (GRCm39) D2G possibly damaging Het
Vwf T C 6: 125,619,693 (GRCm39) L1457P Het
Xpo1 A G 11: 23,235,058 (GRCm39) T576A probably damaging Het
Zdhhc6 A T 19: 55,301,680 (GRCm39) Y100* probably null Het
Zfp534 T A 4: 147,760,082 (GRCm39) R196* probably null Het
Zfp710 C T 7: 79,731,122 (GRCm39) R100W probably damaging Het
Zfp750 T C 11: 121,404,674 (GRCm39) K67R probably benign Het
Zmynd10 T C 9: 107,426,326 (GRCm39) S158P Het
Zmynd8 A T 2: 165,700,058 (GRCm39) M1K probably null Het
Other mutations in Snta1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9759:Snta1 UTSW 2 154,222,889 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCTCCTTCTCAGTCAGCAG -3'
(R):5'- ATGTGCCTGACTTGGATCTCAC -3'

Sequencing Primer
(F):5'- TTCTCAGTCAGCAGGGCCAG -3'
(R):5'- TACCTGGAGATCTGTGCAGC -3'
Posted On 2022-01-20