Incidental Mutation 'IGL03286:Sntb1'
ID 415727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sntb1
Ensembl Gene ENSMUSG00000060429
Gene Name syntrophin, basic 1
Synonyms beta1-Syntrophin, 59-1 DAP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL03286
Quality Score
Status
Chromosome 15
Chromosomal Location 55499784-55770345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55655442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 258 (D258G)
Ref Sequence ENSEMBL: ENSMUSP00000105829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039769] [ENSMUST00000110200]
AlphaFold Q99L88
Predicted Effect possibly damaging
Transcript: ENSMUST00000039769
AA Change: D258G

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: D258G

DomainStartEndE-ValueType
PH 19 299 5.14e0 SMART
PDZ 120 194 4.5e-17 SMART
PH 322 434 2.81e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110200
AA Change: D258G

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105829
Gene: ENSMUSG00000060429
AA Change: D258G

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
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
Aox1 G A 1: 58,088,543 (GRCm39) G110S probably benign Het
Arhgap32 T C 9: 32,170,816 (GRCm39) S1548P probably benign Het
Cacna1s A G 1: 136,005,397 (GRCm39) D147G probably benign Het
Calcoco2 A G 11: 95,994,098 (GRCm39) V116A possibly damaging Het
Chd5 A T 4: 152,469,952 (GRCm39) M1842L probably benign Het
Comt T C 16: 18,230,490 (GRCm39) D73G probably damaging Het
Ctnna1 A G 18: 35,308,206 (GRCm39) I175M probably benign Het
Dnah6 A T 6: 73,060,068 (GRCm39) Y2839N probably damaging Het
Dph7 T A 2: 24,856,628 (GRCm39) H193Q probably damaging Het
Eif2b5 A G 16: 20,321,012 (GRCm39) D258G probably damaging Het
Eml5 T C 12: 98,826,762 (GRCm39) D630G probably damaging Het
Ext2 C T 2: 93,537,617 (GRCm39) V590M probably damaging Het
Fchsd2 T C 7: 100,908,982 (GRCm39) probably null Het
Gm13272 A G 4: 88,698,586 (GRCm39) Q167R probably benign Het
Gm21834 A G 17: 58,048,922 (GRCm39) V98A possibly damaging Het
Grid1 T A 14: 35,242,642 (GRCm39) probably benign Het
H2-DMa T A 17: 34,356,083 (GRCm39) probably null Het
Ighv5-17 T G 12: 113,822,797 (GRCm39) E108A possibly damaging Het
Invs A G 4: 48,382,261 (GRCm39) T144A probably benign Het
Ipo9 A G 1: 135,334,816 (GRCm39) probably benign Het
Itga4 A T 2: 79,119,706 (GRCm39) Y504F probably damaging Het
Krt5 A G 15: 101,615,983 (GRCm39) F544S unknown Het
Larp4 A G 15: 99,883,967 (GRCm39) Y67C probably damaging Het
Msh2 T C 17: 87,990,095 (GRCm39) M261T possibly damaging Het
Nav1 A T 1: 135,382,274 (GRCm39) C1367S probably benign Het
Nox4 T A 7: 87,019,349 (GRCm39) probably benign Het
Noxa1 A G 2: 24,975,732 (GRCm39) probably null Het
Or5b98 A C 19: 12,931,532 (GRCm39) Y193S probably benign Het
Or6p1 A C 1: 174,258,743 (GRCm39) I250L probably benign Het
Pde4d T A 13: 110,091,040 (GRCm39) probably benign Het
Pdlim2 C T 14: 70,411,925 (GRCm39) G36S possibly damaging Het
Plekhm2 A G 4: 141,361,658 (GRCm39) S262P possibly damaging Het
Pnpla6 C A 8: 3,581,473 (GRCm39) T582K probably damaging Het
Rap1b A T 10: 117,654,480 (GRCm39) L120* probably null Het
Rft1 C T 14: 30,383,323 (GRCm39) T121I probably benign Het
Scn1a A G 2: 66,107,920 (GRCm39) I1613T probably damaging Het
Slc47a2 T G 11: 61,233,293 (GRCm39) E79A possibly damaging Het
Slc9a4 A G 1: 40,619,928 (GRCm39) I85V probably null Het
Slfn8 A T 11: 82,904,294 (GRCm39) F365L probably damaging Het
Smcr8 T A 11: 60,668,853 (GRCm39) probably benign Het
Sorbs1 A G 19: 40,332,858 (GRCm39) I520T probably damaging Het
Sptbn2 T C 19: 4,797,860 (GRCm39) S1896P probably damaging Het
Sptlc3 G A 2: 139,431,579 (GRCm39) G367D probably damaging Het
Stab1 C T 14: 30,881,283 (GRCm39) probably benign Het
Tars2 T C 3: 95,662,067 (GRCm39) probably benign Het
Tchhl1 C T 3: 93,378,430 (GRCm39) A378V probably benign Het
Tet3 A T 6: 83,352,760 (GRCm39) F1012Y probably damaging Het
Tuba8 A G 6: 121,199,913 (GRCm39) D199G possibly damaging Het
Vmn2r110 T A 17: 20,804,468 (GRCm39) T151S possibly damaging Het
Xirp2 T C 2: 67,346,654 (GRCm39) I2965T probably damaging Het
Zfp688 T A 7: 127,018,703 (GRCm39) M141L 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
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
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
Posted On 2016-08-02