Incidental Mutation 'R1545:Snta1'
ID 172090
Institutional Source Beutler Lab
Gene Symbol Snta1
Ensembl Gene ENSMUSG00000027488
Gene Name syntrophin, acidic 1
Synonyms alpha1-syntrophin, Snt1
MMRRC Submission 039584-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.555) question?
Stock # R1545 (G1)
Quality Score 215
Status Not validated
Chromosome 2
Chromosomal Location 154218234-154250004 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 154218926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028990] [ENSMUST00000028991] [ENSMUST00000028991] [ENSMUST00000109728] [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 null
Transcript: ENSMUST00000028991
SMART Domains Protein: ENSMUSP00000028991
Gene: ENSMUSG00000027488

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 null
Transcript: ENSMUST00000028991
SMART Domains Protein: ENSMUSP00000028991
Gene: ENSMUSG00000027488

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 null
Transcript: ENSMUST00000109728
SMART Domains Protein: ENSMUSP00000105350
Gene: ENSMUSG00000027488

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 null
Transcript: ENSMUST00000109728
SMART Domains Protein: ENSMUSP00000105350
Gene: ENSMUSG00000027488

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,641 (GRCm39) R410H probably damaging Het
Abca2 T C 2: 25,332,370 (GRCm39) C1468R probably benign Het
Actl9 T A 17: 33,652,231 (GRCm39) I97N probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asb3 T A 11: 31,006,217 (GRCm39) M234K probably benign Het
Bax A C 7: 45,111,357 (GRCm39) H168Q probably null Het
Brinp1 A G 4: 68,681,192 (GRCm39) L446P possibly damaging Het
Cdc14a A G 3: 116,087,373 (GRCm39) probably null Het
Cfap299 C A 5: 98,477,291 (GRCm39) Q27K probably benign Het
Cpq A T 15: 33,250,146 (GRCm39) I168F probably damaging Het
Crkl A T 16: 17,301,556 (GRCm39) N270I probably damaging Het
Cul7 G A 17: 46,962,479 (GRCm39) E37K probably damaging Het
Eps15 C T 4: 109,169,526 (GRCm39) T112I probably benign Het
F5 C T 1: 164,036,529 (GRCm39) R1897* probably null Het
Fbxl5 A T 5: 43,928,140 (GRCm39) L40Q probably damaging Het
Fhip1a C T 3: 85,573,261 (GRCm39) S896N probably damaging Het
Gprc5a C A 6: 135,060,459 (GRCm39) T316K probably damaging Het
Hectd4 T A 5: 121,462,019 (GRCm39) L2299Q possibly damaging Het
Khdc3 C G 9: 73,010,942 (GRCm39) P240R probably benign Het
Kif20b A G 19: 34,906,318 (GRCm39) T69A probably damaging Het
Kptn C G 7: 15,857,888 (GRCm39) Q239E probably benign Het
Lep T C 6: 29,070,831 (GRCm39) S52P probably damaging Het
Lrig3 G A 10: 125,844,416 (GRCm39) V627M possibly damaging Het
Lrrc37 T C 11: 103,499,745 (GRCm39) K615E probably benign Het
Mdga1 G A 17: 30,061,876 (GRCm39) R792C probably damaging Het
Mink1 T C 11: 70,489,717 (GRCm39) V58A possibly damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nrg3 T A 14: 38,129,111 (GRCm39) I375F probably benign Het
Nup50 A G 15: 84,823,993 (GRCm39) T449A possibly damaging Het
Nup98 A G 7: 101,784,087 (GRCm39) S1082P possibly damaging Het
Or8b1b C A 9: 38,375,815 (GRCm39) H159Q probably benign Het
Otub1 T C 19: 7,176,571 (GRCm39) I188V probably benign Het
Pcdhac2 T C 18: 37,279,186 (GRCm39) I722T possibly damaging Het
Pcsk7 T A 9: 45,825,646 (GRCm39) D292E probably damaging Het
Peli2 T A 14: 48,490,174 (GRCm39) D215E probably benign Het
Ppp1r9a T C 6: 5,156,242 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,773,725 (GRCm39) K136R possibly damaging Het
Prpf3 T C 3: 95,755,115 (GRCm39) K157E probably damaging Het
Prss50 T C 9: 110,690,336 (GRCm39) S160P probably damaging Het
Ptprb T C 10: 116,216,774 (GRCm39) V2251A probably damaging Het
Rgs6 G A 12: 83,162,951 (GRCm39) E386K probably damaging Het
Rida A G 15: 34,495,250 (GRCm39) I5T probably benign Het
Rpe A G 1: 66,740,169 (GRCm39) H35R probably damaging Het
Sema4b T A 7: 79,868,771 (GRCm39) D321E probably benign Het
Slc22a13 G A 9: 119,038,113 (GRCm39) A5V probably benign Het
Spdye4c T A 2: 128,437,632 (GRCm39) N220K probably benign Het
Sult1c2 G T 17: 54,269,176 (GRCm39) A280E possibly damaging Het
Tfr2 A G 5: 137,581,561 (GRCm39) E579G probably benign Het
Tmem221 A G 8: 72,011,182 (GRCm39) L91P probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Vmn1r17 A G 6: 57,338,317 (GRCm39) V16A probably benign Het
Vmn1r188 A G 13: 22,272,603 (GRCm39) R186G probably damaging Het
Wfikkn1 A G 17: 26,097,565 (GRCm39) V253A probably 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
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'- TCTTGCCACTGACCCAGAAGACTC -3'
(R):5'- TGCACATCGACAAGGGCTTCAC -3'

Sequencing Primer
(F):5'- ATGAACGATCCTCTTCAGGGC -3'
(R):5'- ACAAGGGCTTCACCCTGTG -3'
Posted On 2014-04-13