Incidental Mutation 'R6883:Sntb1'
ID 536912
Institutional Source Beutler Lab
Gene Symbol Sntb1
Ensembl Gene ENSMUSG00000060429
Gene Name syntrophin, basic 1
Synonyms beta1-Syntrophin, 59-1 DAP
MMRRC Submission 044978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6883 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 55499784-55770345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55769719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 90 (V90A)
Ref Sequence ENSEMBL: ENSMUSP00000105829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039769] [ENSMUST00000110200]
AlphaFold Q99L88
Predicted Effect probably benign
Transcript: ENSMUST00000039769
AA Change: V90A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: V90A

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 benign
Transcript: ENSMUST00000110200
AA Change: V90A

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105829
Gene: ENSMUSG00000060429
AA Change: V90A

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
PDZ 120 194 4.5e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 92% (45/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A G 9: 118,985,728 (GRCm39) S66P possibly damaging Het
Adh7 A T 3: 137,929,825 (GRCm39) E167V probably damaging Het
Ano6 T C 15: 95,859,992 (GRCm39) S705P probably damaging Het
Arpc1b T C 5: 145,063,739 (GRCm39) V329A probably benign Het
Btla C T 16: 45,063,092 (GRCm39) H152Y probably benign Het
Cadps T C 14: 12,465,883 (GRCm38) E1009G probably damaging Het
Cttnbp2nl A G 3: 104,918,507 (GRCm39) probably null Het
Cyp4a12a G T 4: 115,159,221 (GRCm39) V164F probably damaging Het
Duox1 G T 2: 122,155,065 (GRCm39) probably null Het
Fcgbpl1 A T 7: 27,852,260 (GRCm39) H1261L possibly damaging Het
Fmo6 A G 1: 162,757,461 (GRCm39) I104T probably damaging Het
Fnbp4 T C 2: 90,576,172 (GRCm39) probably null Het
Garem1 T C 18: 21,262,769 (GRCm39) T682A probably benign Het
Gm49358 A G 10: 86,651,762 (GRCm39) E188G probably benign Het
Gm5773 T C 3: 93,681,162 (GRCm39) I278T probably benign Het
Ifi27l2a A G 12: 103,409,756 (GRCm39) probably benign Het
Inpp5d A C 1: 87,627,412 (GRCm39) K308T probably damaging Het
Irf6 A T 1: 192,849,774 (GRCm39) Y232F probably damaging Het
Kcnmb4 T C 10: 116,309,248 (GRCm39) Q60R probably benign Het
Klri2 T C 6: 129,709,985 (GRCm39) D205G probably benign Het
Mcm9 A T 10: 53,492,110 (GRCm39) W352R probably damaging Het
Nat8 A G 6: 85,807,650 (GRCm39) V161A possibly damaging Het
Nlrp9c A T 7: 26,077,556 (GRCm39) M742K probably benign Het
Or10ag58 C A 2: 87,265,623 (GRCm39) T264K probably damaging Het
Or13j1 T C 4: 43,705,723 (GRCm39) T282A possibly damaging Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Pcdha11 A T 18: 37,144,242 (GRCm39) D111V probably damaging Het
Pcdhb6 A T 18: 37,468,198 (GRCm39) D373V probably damaging Het
Pcolce2 A T 9: 95,560,396 (GRCm39) probably null Het
Pik3cb T C 9: 98,983,453 (GRCm39) M52V probably benign Het
Pipox T C 11: 77,774,729 (GRCm39) E118G probably benign Het
Pou4f2 T C 8: 79,162,307 (GRCm39) S99G probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Sim2 G T 16: 93,926,395 (GRCm39) A540S probably benign Het
Smg1 A T 7: 117,767,403 (GRCm39) probably benign Het
Spns2 T C 11: 72,347,196 (GRCm39) probably null Het
Syne1 G T 10: 5,181,704 (GRCm39) C4210* probably null Het
Tek T C 4: 94,725,426 (GRCm39) I564T possibly damaging Het
Tmem94 T G 11: 115,687,287 (GRCm39) C1135W probably damaging Het
Tnxb T A 17: 34,937,493 (GRCm39) D3827E probably damaging Het
Ttl A G 2: 128,923,992 (GRCm39) D235G possibly damaging Het
Tuba4a A G 1: 75,194,066 (GRCm39) S5P probably damaging Het
Uaca T A 9: 60,777,173 (GRCm39) V518D probably damaging Het
Unc80 A T 1: 66,685,563 (GRCm39) Q2229L probably benign Het
Unkl C T 17: 25,449,307 (GRCm39) A78V probably damaging Het
Uroc1 C T 6: 90,315,574 (GRCm39) Q152* probably null Het
Vmn2r51 G T 7: 9,834,025 (GRCm39) Q338K possibly damaging Het
Vps50 C T 6: 3,498,513 (GRCm39) probably benign 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
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
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'- TTCACCGACAGGATGGCATC -3'
(R):5'- GGGATCGCTGGCATAAAGTTCTG -3'

Sequencing Primer
(F):5'- ACATACAGGGCTTGGGTCTGATC -3'
(R):5'- TCTGGTGAACTTGAGCGAGGAC -3'
Posted On 2018-10-18