Incidental Mutation 'R5431:Sntb1'
ID 428069
Institutional Source Beutler Lab
Gene Symbol Sntb1
Ensembl Gene ENSMUSG00000060429
Gene Name syntrophin, basic 1
Synonyms beta1-Syntrophin, 59-1 DAP
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 55499784-55770345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 55506191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 461 (G461R)
Ref Sequence ENSEMBL: ENSMUSP00000041294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039769]
AlphaFold Q99L88
Predicted Effect probably damaging
Transcript: ENSMUST00000039769
AA Change: G461R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: G461R

DomainStartEndE-ValueType
PH 19 299 5.14e0 SMART
PDZ 120 194 4.5e-17 SMART
PH 322 434 2.81e-8 SMART
Meta Mutation Damage Score 0.7492 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly 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
R4370:Sntb1 UTSW 15 55,655,487 (GRCm39) missense probably damaging 0.99
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
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'- TAAGTAGTCAGGCCGCCTAC -3'
(R):5'- GTTAATAAGAAATTCGTGGCTGGGC -3'

Sequencing Primer
(F):5'- ACTTCCAAGTCATTGCACATG -3'
(R):5'- CTGGGCACTGGGTTGAAG -3'
Posted On 2016-09-01