Incidental Mutation 'R4370:Sntb1'
ID 325969
Institutional Source Beutler Lab
Gene Symbol Sntb1
Ensembl Gene ENSMUSG00000060429
Gene Name syntrophin, basic 1
Synonyms beta1-Syntrophin, 59-1 DAP
MMRRC Submission 041674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R4370 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 55499784-55770345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55655487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 243 (I243T)
Ref Sequence ENSEMBL: ENSMUSP00000105829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039769] [ENSMUST00000110200]
AlphaFold Q99L88
Predicted Effect probably damaging
Transcript: ENSMUST00000039769
AA Change: I243T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: I243T

DomainStartEndE-ValueType
PH 19 299 5.14e0 SMART
PDZ 120 194 4.5e-17 SMART
PH 322 434 2.81e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110200
AA Change: I243T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105829
Gene: ENSMUSG00000060429
AA Change: I243T

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
PDZ 120 194 4.5e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140574
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T A 2: 127,720,708 (GRCm39) D190E possibly damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Armc2 A T 10: 41,793,196 (GRCm39) N809K probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bmal2 A T 6: 146,711,149 (GRCm39) E51V probably damaging Het
Cage1 G A 13: 38,209,626 (GRCm39) S11F probably damaging Het
Car15 T C 16: 17,653,299 (GRCm39) I289M probably damaging Het
Cdhr18 C T 14: 13,862,375 (GRCm38) S393N probably benign Het
Cfap100 A T 6: 90,390,376 (GRCm39) I242N probably damaging Het
Dst GAA GA 1: 34,290,809 (GRCm39) probably null Het
Epdr1 C A 13: 19,803,576 (GRCm39) V53F probably benign Het
Igfn1 A G 1: 135,895,844 (GRCm39) M1574T probably benign Het
Kat6a T C 8: 23,401,945 (GRCm39) I438T possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krtap4-7 G A 11: 99,534,543 (GRCm39) P107S unknown Het
Lrp6 A C 6: 134,483,321 (GRCm39) Y461* probably null Het
Mecom T A 3: 30,011,504 (GRCm39) E723V probably damaging Het
Nsd3 T A 8: 26,138,524 (GRCm39) I258N probably benign Het
Or10q12 T C 19: 13,746,315 (GRCm39) V203A probably benign Het
Or5k8 T A 16: 58,644,956 (GRCm39) M39L probably benign Het
Or8k32 A T 2: 86,368,764 (GRCm39) I165N possibly damaging Het
Rb1cc1 A G 1: 6,318,771 (GRCm39) D730G probably damaging Het
Sacs A G 14: 61,449,758 (GRCm39) R3935G probably damaging Het
Setd5 A G 6: 113,098,766 (GRCm39) K800E probably damaging Het
Slc26a4 G T 12: 31,579,475 (GRCm39) Q596K probably benign Het
Slc38a4 T A 15: 96,906,965 (GRCm39) N258Y possibly damaging Het
Sspo A G 6: 48,443,282 (GRCm39) S2051G probably null Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tgm2 G A 2: 157,966,221 (GRCm39) R478* probably null Het
Tgm6 T C 2: 129,985,525 (GRCm39) Y443H probably benign Het
Tor2a T A 2: 32,648,870 (GRCm39) D113E probably benign Het
Trio C A 15: 27,748,423 (GRCm39) E1266* probably null Het
Usp40 T C 1: 87,925,597 (GRCm39) I211V probably benign Het
Zfp791 C T 8: 85,840,235 (GRCm39) V11M probably damaging Het
Other mutations in Sntb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02056:Sntb1 APN 15 55,511,435 (GRCm39) missense possibly damaging 0.93
IGL02732:Sntb1 APN 15 55,655,596 (GRCm39) missense possibly damaging 0.62
IGL02965:Sntb1 APN 15 55,506,081 (GRCm39) nonsense probably null
IGL03084:Sntb1 APN 15 55,655,487 (GRCm39) missense probably damaging 0.99
IGL03286:Sntb1 APN 15 55,655,442 (GRCm39) missense possibly damaging 0.59
R0117:Sntb1 UTSW 15 55,769,749 (GRCm39) missense probably benign
R0178:Sntb1 UTSW 15 55,769,540 (GRCm39) missense probably damaging 0.98
R0465:Sntb1 UTSW 15 55,612,672 (GRCm39) missense probably benign 0.02
R0626:Sntb1 UTSW 15 55,506,179 (GRCm39) missense probably benign 0.20
R0726:Sntb1 UTSW 15 55,539,752 (GRCm39) missense probably benign
R1125:Sntb1 UTSW 15 55,612,676 (GRCm39) missense probably benign
R1443:Sntb1 UTSW 15 55,511,351 (GRCm39) missense probably damaging 1.00
R1888:Sntb1 UTSW 15 55,612,745 (GRCm39) nonsense probably null
R1888:Sntb1 UTSW 15 55,612,745 (GRCm39) nonsense probably null
R2208:Sntb1 UTSW 15 55,769,714 (GRCm39) missense possibly damaging 0.79
R2426:Sntb1 UTSW 15 55,769,575 (GRCm39) missense probably damaging 1.00
R3721:Sntb1 UTSW 15 55,506,214 (GRCm39) missense probably benign 0.10
R4706:Sntb1 UTSW 15 55,612,670 (GRCm39) missense probably benign 0.09
R4883:Sntb1 UTSW 15 55,506,198 (GRCm39) nonsense probably null
R5223:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5242:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5270:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5313:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5314:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5316:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5336:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5337:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5396:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5398:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5427:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5428:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5429:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5431:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5594:Sntb1 UTSW 15 55,506,191 (GRCm39) missense probably damaging 1.00
R5658:Sntb1 UTSW 15 55,655,472 (GRCm39) missense probably damaging 1.00
R5665:Sntb1 UTSW 15 55,655,535 (GRCm39) missense probably benign 0.00
R6147:Sntb1 UTSW 15 55,511,406 (GRCm39) missense probably benign
R6159:Sntb1 UTSW 15 55,539,698 (GRCm39) critical splice donor site probably null
R6883:Sntb1 UTSW 15 55,769,719 (GRCm39) missense probably benign 0.38
R7008:Sntb1 UTSW 15 55,655,468 (GRCm39) nonsense probably null
R7168:Sntb1 UTSW 15 55,654,661 (GRCm39) missense probably benign 0.00
R7511:Sntb1 UTSW 15 55,511,347 (GRCm39) missense possibly damaging 0.71
R7600:Sntb1 UTSW 15 55,655,584 (GRCm39) missense possibly damaging 0.82
R8242:Sntb1 UTSW 15 55,655,629 (GRCm39) missense possibly damaging 0.95
R8804:Sntb1 UTSW 15 55,655,523 (GRCm39) missense probably benign 0.37
R9280:Sntb1 UTSW 15 55,769,771 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGTGGGAGGACCTTTCATTC -3'
(R):5'- ACATTGTATGCTGTACCACATATTG -3'

Sequencing Primer
(F):5'- GGAGGACCTTTCATTCTATTCATGAG -3'
(R):5'- TGGTATTCCTAAAAGTGTTTCTTGTC -3'
Posted On 2015-07-06