Incidental Mutation 'R0760:Snta1'
ID 70035
Institutional Source Beutler Lab
Gene Symbol Snta1
Ensembl Gene ENSMUSG00000027488
Gene Name syntrophin, acidic 1
Synonyms alpha1-syntrophin, Snt1
MMRRC Submission 038940-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R0760 (G1)
Quality Score 177
Status Validated
Chromosome 2
Chromosomal Location 154218234-154250004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154222860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 288 (I288F)
Ref Sequence ENSEMBL: ENSMUSP00000105350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028991] [ENSMUST00000109728]
AlphaFold Q61234
Predicted Effect probably damaging
Transcript: ENSMUST00000028991
AA Change: I288F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028991
Gene: ENSMUSG00000027488
AA Change: I288F

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 damaging
Transcript: ENSMUST00000109728
AA Change: I288F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105350
Gene: ENSMUSG00000027488
AA Change: I288F

DomainStartEndE-ValueType
PH 7 265 1.24e0 SMART
PDZ 90 164 1.88e-19 SMART
PH 288 397 1.63e-4 SMART
Meta Mutation Damage Score 0.1699 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.8%
Validation Efficiency 95% (39/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,324,661 (GRCm39) V120A possibly damaging Het
Adamts2 T C 11: 50,666,153 (GRCm39) V383A probably damaging Het
Alcam C T 16: 52,116,035 (GRCm39) V180M probably benign Het
Catip A G 1: 74,402,118 (GRCm39) probably benign Het
Ccm2l A C 2: 152,914,104 (GRCm39) N298T probably damaging Het
Ccni A G 5: 93,331,188 (GRCm39) V261A possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyb5d1 A G 11: 69,285,999 (GRCm39) F41L probably benign Het
Fbxw8 A G 5: 118,203,966 (GRCm39) probably null Het
Garin2 A G 12: 78,761,927 (GRCm39) D197G probably damaging Het
Gpaa1 T C 15: 76,216,119 (GRCm39) I33T probably benign Het
Grip1 T A 10: 119,853,983 (GRCm39) S512T probably damaging Het
Gtpbp1 G A 15: 79,603,356 (GRCm39) G140E probably damaging Het
Hspa4l T A 3: 40,739,155 (GRCm39) L681* probably null Het
Hspg2 A G 4: 137,239,660 (GRCm39) T456A probably damaging Het
Igkv3-1 A T 6: 70,681,119 (GRCm39) D106V probably damaging Het
Inhbc C T 10: 127,193,237 (GRCm39) G260S probably damaging Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Kif5c T C 2: 49,578,765 (GRCm39) I131T probably damaging Het
Kmt2c A G 5: 25,558,315 (GRCm39) Y1133H possibly damaging Het
Lama2 A G 10: 26,920,429 (GRCm39) probably null Het
N4bp1 A G 8: 87,573,540 (GRCm39) Y744H probably damaging Het
Or14j7 C T 17: 38,235,005 (GRCm39) Q183* probably null Het
Or1n2 A G 2: 36,797,233 (GRCm39) S92G probably benign Het
Ovol2 A G 2: 144,173,679 (GRCm39) probably null Het
Pappa2 C A 1: 158,544,531 (GRCm39) probably null Het
Pcdh10 G A 3: 45,335,005 (GRCm39) E440K probably benign Het
Pcsk4 A G 10: 80,161,775 (GRCm39) probably benign Het
Plcl2 A G 17: 50,915,802 (GRCm39) N937S possibly damaging Het
Ppp6r1 A G 7: 4,642,722 (GRCm39) F541L probably benign Het
Rad54l2 A G 9: 106,596,805 (GRCm39) probably null Het
Ranbp2 C T 10: 58,312,613 (GRCm39) P1111L possibly damaging Het
Rasal3 A G 17: 32,611,146 (GRCm39) F929S probably benign Het
Rnf111 A G 9: 70,336,960 (GRCm39) V909A probably damaging Het
Rnf168 A G 16: 32,117,204 (GRCm39) probably null Het
Slc2a5 T C 4: 150,224,124 (GRCm39) L244P probably benign Het
Sv2a G A 3: 96,095,498 (GRCm39) C297Y probably damaging Het
Trim44 C T 2: 102,230,905 (GRCm39) probably benign Het
Uggt1 A T 1: 36,200,805 (GRCm39) I1164N possibly damaging 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
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
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'- AGCAGTAGAAGAGCAGCTCCTTCTC -3'
(R):5'- CTGACCAGTGATGTGCCTGACTTG -3'

Sequencing Primer
(F):5'- GAGCAGCTCCTTCTCAGTCAG -3'
(R):5'- ATGTGCCTGACTTGGATCTCAC -3'
Posted On 2013-09-30