Incidental Mutation 'R6468:Snta1'
ID 516406
Institutional Source Beutler Lab
Gene Symbol Snta1
Ensembl Gene ENSMUSG00000027488
Gene Name syntrophin, acidic 1
Synonyms alpha1-syntrophin, Snt1
MMRRC Submission 044601-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.555) question?
Stock # R6468 (G1)
Quality Score 175.009
Status Validated
Chromosome 2
Chromosomal Location 154218234-154250004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154219069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 422 (D422V)
Ref Sequence ENSEMBL: ENSMUSP00000105350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028990] [ENSMUST00000028991] [ENSMUST00000109728] [ENSMUST00000109730] [ENSMUST00000109731]
AlphaFold Q61234
Predicted Effect probably benign
Transcript: ENSMUST00000028990
SMART Domains Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487

DomainStartEndE-ValueType
Pfam:UPF0004 100 203 3.2e-31 PFAM
Elp3 247 486 4.83e-52 SMART
Pfam:TRAM 500 574 1.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000028991
AA Change: D426V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028991
Gene: ENSMUSG00000027488
AA Change: D426V

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: D422V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105350
Gene: ENSMUSG00000027488
AA Change: D422V

DomainStartEndE-ValueType
PH 7 265 1.24e0 SMART
PDZ 90 164 1.88e-19 SMART
PH 288 397 1.63e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109730
SMART Domains Protein: ENSMUSP00000105352
Gene: ENSMUSG00000027487

DomainStartEndE-ValueType
Pfam:UPF0004 100 181 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109731
SMART Domains Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487

DomainStartEndE-ValueType
Pfam:UPF0004 100 203 1.1e-31 PFAM
Elp3 247 486 4.83e-52 SMART
Pfam:TRAM 500 574 1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148289
Meta Mutation Damage Score 0.2501 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (57/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 A G 10: 80,177,747 (GRCm39) V305A possibly damaging Het
Adgrl4 A G 3: 151,198,012 (GRCm39) T91A probably benign Het
Ano6 A G 15: 95,865,595 (GRCm39) I860V probably benign Het
B3galnt1 A G 3: 69,482,866 (GRCm39) S132P probably damaging Het
Bltp1 T C 3: 37,062,592 (GRCm39) I3368T probably damaging Het
Btbd10 A T 7: 112,946,266 (GRCm39) V33E probably benign Het
Cacna1g A T 11: 94,330,548 (GRCm39) V989D probably damaging Het
Celsr3 A G 9: 108,712,989 (GRCm39) D1807G probably benign Het
Chd6 A G 2: 160,854,987 (GRCm39) M807T probably damaging Het
Cpxm2 T C 7: 131,672,589 (GRCm39) D320G probably damaging Het
Cryzl1 A C 16: 91,489,413 (GRCm39) probably null Het
Dcbld2 A T 16: 58,253,736 (GRCm39) K158* probably null Het
Depdc5 A G 5: 33,069,575 (GRCm39) N437S probably benign Het
Dock7 G A 4: 98,855,464 (GRCm39) S1496L probably benign Het
Eea1 T G 10: 95,864,274 (GRCm39) I931R probably benign Het
Eif2ak4 C A 2: 118,266,722 (GRCm39) L714I probably damaging Het
Enpep A G 3: 129,125,509 (GRCm39) probably null Het
Fam83b T A 9: 76,409,413 (GRCm39) K238* probably null Het
Fam83f A G 15: 80,576,312 (GRCm39) Y321C possibly damaging Het
Fanci A G 7: 79,067,687 (GRCm39) I42V probably benign Het
Flg2 A T 3: 93,121,728 (GRCm39) R1299S unknown Het
Gak G T 5: 108,771,202 (GRCm39) C102* probably null Het
Gcnt7 A G 2: 172,295,993 (GRCm39) L277P probably damaging Het
Gucy2d A G 7: 98,099,168 (GRCm39) E329G probably benign Het
Hacd1 T C 2: 14,040,755 (GRCm39) I167V probably damaging Het
Hdlbp T A 1: 93,345,389 (GRCm39) D662V possibly damaging Het
Hspa4 A T 11: 53,155,883 (GRCm39) V674E probably benign Het
Hunk A G 16: 90,290,320 (GRCm39) Q442R possibly damaging Het
Lce1j A T 3: 92,696,729 (GRCm39) C16* probably null Het
Lrat A T 3: 82,810,799 (GRCm39) M74K probably damaging Het
Lrig2 G A 3: 104,374,509 (GRCm39) R191C probably damaging Het
Lrrc37a A C 11: 103,351,666 (GRCm39) F2558L unknown Het
Mctp1 T A 13: 76,879,930 (GRCm39) probably null Het
Mecom T A 3: 30,194,535 (GRCm39) probably benign Het
Mgst1 A G 6: 138,118,585 (GRCm39) probably null Het
Ms4a15 T G 19: 10,970,534 (GRCm39) E3A probably benign Het
Myo1d T C 11: 80,448,300 (GRCm39) I942V probably benign Het
Neu2 A G 1: 87,524,600 (GRCm39) Y195C probably damaging Het
Nipa1 A T 7: 55,669,252 (GRCm39) V22E probably benign Het
Or4n4b A T 14: 50,535,924 (GRCm39) L281I probably benign Het
Or6c35 T C 10: 129,169,580 (GRCm39) S277P possibly damaging Het
Or8k25 T A 2: 86,244,381 (GRCm39) N5I probably damaging Het
Pik3r4 A G 9: 105,562,389 (GRCm39) T1223A possibly damaging Het
Ppl T C 16: 4,910,305 (GRCm39) D811G probably damaging Het
Prep T A 10: 44,991,203 (GRCm39) Y290N probably damaging Het
Ptk6 A T 2: 180,840,895 (GRCm39) H215Q probably benign Het
Rad50 A G 11: 53,582,971 (GRCm39) I474T possibly damaging Het
Rnf213 T A 11: 119,343,513 (GRCm39) V3626E possibly damaging Het
Scn4a C T 11: 106,236,502 (GRCm39) V253M probably damaging Het
Spata31h1 G T 10: 82,131,150 (GRCm39) T620K probably benign Het
Stk38 A G 17: 29,203,086 (GRCm39) L160P probably benign Het
Tapbp T C 17: 34,145,072 (GRCm39) F323S probably damaging Het
Uggt1 C T 1: 36,212,531 (GRCm39) R937Q probably benign Het
Vash2 G A 1: 190,710,484 (GRCm39) P57L probably damaging Het
Vmn1r4 G A 6: 56,933,852 (GRCm39) V119I probably benign Het
Vmn2r74 T C 7: 85,610,599 (GRCm39) D31G probably benign Het
Zfp114 T C 7: 23,877,206 (GRCm39) V16A 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
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
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'- GAAGGGTCAGGAATTCTGTCC -3'
(R):5'- TGTTCGGTGTCATGACAGAG -3'

Sequencing Primer
(F):5'- TCAGGAATTCTGTCCAGACTGGC -3'
(R):5'- TGTCATGACAGAGGGAGCC -3'
Posted On 2018-05-21