Incidental Mutation 'R7857:Snta1'
ID 607266
Institutional Source Beutler Lab
Gene Symbol Snta1
Ensembl Gene ENSMUSG00000027488
Gene Name syntrophin, acidic 1
Synonyms alpha1-syntrophin, Snt1
MMRRC Submission 045910-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.555) question?
Stock # R7857 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 154218234-154250004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 154225817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 189 (L189H)
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: L189H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028991
Gene: ENSMUSG00000027488
AA Change: L189H

DomainStartEndE-ValueType
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: L189H

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105350
Gene: ENSMUSG00000027488
AA Change: L189H

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: 99.7%
  • 20x: 99.2%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,454,104 (GRCm39) N307I probably benign Het
Ahnak G A 19: 8,984,832 (GRCm39) V2039M probably damaging Het
Arhgef40 T A 14: 52,226,212 (GRCm39) H85Q probably damaging Het
Ash1l T A 3: 88,891,616 (GRCm39) L1165* probably null Het
Cck A G 9: 121,322,514 (GRCm39) W100R probably damaging Het
Cdon A G 9: 35,367,908 (GRCm39) R268G possibly damaging Het
Cldn12 T C 5: 5,558,209 (GRCm39) T73A probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Ctnnd2 A T 15: 30,620,076 (GRCm39) T143S probably benign Het
Cyp2b13 T A 7: 25,788,153 (GRCm39) L427Q possibly damaging Het
Dnah3 A T 7: 119,550,927 (GRCm39) Y152N probably damaging Het
Dsg1b A T 18: 20,529,520 (GRCm39) M322L probably benign Het
Efhc1 T C 1: 21,045,226 (GRCm39) M414T probably benign Het
Elp3 G A 14: 65,800,759 (GRCm39) T302M probably benign Het
Entpd6 T C 2: 150,607,473 (GRCm39) probably null Het
Epb41l4a G T 18: 34,139,098 (GRCm39) C13* probably null Het
Ephb6 T C 6: 41,590,331 (GRCm39) S28P probably benign Het
Fbxo21 T C 5: 118,126,878 (GRCm39) S210P probably benign Het
Gapvd1 T A 2: 34,619,079 (GRCm39) E98V probably benign Het
Gcdh A G 8: 85,619,093 (GRCm39) V157A probably damaging Het
Gm10638 G T 8: 87,472,891 (GRCm39) R188L unknown Het
Grk3 T C 5: 113,109,427 (GRCm39) T177A unknown Het
Gsc T G 12: 104,438,424 (GRCm39) E148A probably damaging Het
Hacd4 C T 4: 88,355,702 (GRCm39) G61E probably damaging Het
Herc3 G A 6: 58,820,637 (GRCm39) W7* probably null Het
Il1rl2 T C 1: 40,366,642 (GRCm39) Y59H probably benign Het
Irag1 T A 7: 110,522,742 (GRCm39) K234* probably null Het
Kif1c A G 11: 70,619,103 (GRCm39) T913A probably benign Het
Lipg C T 18: 75,078,891 (GRCm39) G454R probably damaging Het
Lrrc74a A G 12: 86,788,485 (GRCm39) D155G probably benign Het
Ltf A T 9: 110,851,444 (GRCm39) I137F probably benign Het
Med19 T A 2: 84,515,969 (GRCm39) M166K probably damaging Het
Mei1 A T 15: 81,976,918 (GRCm39) Y167F not run Het
Ncaph A C 2: 126,946,165 (GRCm39) D724E probably damaging Het
Neb T A 2: 52,112,996 (GRCm39) D4266V probably damaging Het
Npffr1 G T 10: 61,449,765 (GRCm39) W13L probably benign Het
Or51b6 A T 7: 103,555,817 (GRCm39) H54L Het
Pcdha12 A T 18: 37,155,468 (GRCm39) D729V probably benign Het
Pcdha7 A T 18: 37,108,892 (GRCm39) E639V probably damaging Het
Pcdhb18 A T 18: 37,624,364 (GRCm39) M565L probably benign Het
Plcd3 A T 11: 102,968,760 (GRCm39) D310E probably benign Het
Pmm2 C G 16: 8,460,632 (GRCm39) Q29E probably benign Het
Poli T G 18: 70,642,225 (GRCm39) E658D probably benign Het
Prss22 G A 17: 24,212,853 (GRCm39) R295C probably damaging Het
Psg26 A G 7: 18,212,215 (GRCm39) I380T possibly damaging Het
Reep5 A T 18: 34,505,521 (GRCm39) V50E possibly damaging Het
Rfx7 A G 9: 72,500,605 (GRCm39) T122A possibly damaging Het
Robo1 A G 16: 72,767,099 (GRCm39) N424D probably damaging Het
Slc4a7 T C 14: 14,772,624 (GRCm38) V711A probably benign Het
Smc4 T C 3: 68,940,552 (GRCm39) V1162A possibly damaging Het
Tmem121 C T 12: 113,152,696 (GRCm39) R305C possibly damaging Het
Tmem68 A G 4: 3,551,825 (GRCm39) V271A probably damaging Het
Tmx4 T G 2: 134,481,582 (GRCm39) M114L probably benign Het
Trps1 T A 15: 50,524,401 (GRCm39) R1176S probably damaging Het
Usp21 A G 1: 171,114,335 (GRCm39) L63P probably benign Het
Vmn2r84 T A 10: 130,226,738 (GRCm39) M367L probably benign Het
Wbp2nl A G 15: 82,190,273 (GRCm39) N67S probably benign Het
Wdr35 T C 12: 9,058,113 (GRCm39) probably null Het
Zfp236 G A 18: 82,686,726 (GRCm39) Q271* probably null Het
Zfp831 T C 2: 174,547,035 (GRCm39) V1406A probably benign Het
Zfp934 G A 13: 62,665,361 (GRCm39) H459Y 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
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'- GATGCTGCCATCATGTTCATC -3'
(R):5'- CTCGCCAAAGACTTTAGCTTAG -3'

Sequencing Primer
(F):5'- TGCCATCATGTTCATCACTTAAATAC -3'
(R):5'- CGCCAAAGACTTTAGCTTAGAAATG -3'
Posted On 2019-12-20