Incidental Mutation 'IGL02427:Dtna'
ID 292967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtna
Ensembl Gene ENSMUSG00000024302
Gene Name dystrobrevin alpha
Synonyms a-DB-1, A0, alpha-dystrobrevin, 2210407P21Rik, 87K protein, Dtn, adbn
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # IGL02427
Quality Score
Status
Chromosome 18
Chromosomal Location 23548192-23792772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23784595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 705 (Y705H)
Ref Sequence ENSEMBL: ENSMUSP00000152288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000222726]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000115832
AA Change: Y641H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: Y641H

DomainStartEndE-ValueType
Pfam:EF-hand_2 16 140 1.7e-37 PFAM
Pfam:EF-hand_3 144 232 1.6e-32 PFAM
ZnF_ZZ 237 282 1.29e-17 SMART
SCOP:d1eq1a_ 361 494 5e-3 SMART
low complexity region 499 514 N/A INTRINSIC
coiled coil region 650 677 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220789
Predicted Effect possibly damaging
Transcript: ENSMUST00000220904
AA Change: Y705H

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000222726
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutants exhibit skeletal and cardiac myopathies. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik C T 5: 99,381,829 (GRCm39) G311D probably damaging Het
Ablim1 A T 19: 57,068,312 (GRCm39) probably benign Het
Adgrg2 T C X: 159,274,400 (GRCm39) F863S probably damaging Het
B3galt2 A T 1: 143,522,254 (GRCm39) H130L probably benign Het
Bbs2 G A 8: 94,807,746 (GRCm39) P378S possibly damaging Het
Ccdc154 A T 17: 25,390,731 (GRCm39) probably null Het
Ccdc88c C T 12: 100,887,851 (GRCm39) C1543Y probably damaging Het
Cdcp3 T A 7: 130,846,517 (GRCm39) V647E probably damaging Het
Cfap77 A T 2: 28,845,592 (GRCm39) C258* probably null Het
Cpsf4l T G 11: 113,600,324 (GRCm39) probably benign Het
Csrnp3 G A 2: 65,708,380 (GRCm39) probably benign Het
Cul9 G A 17: 46,813,558 (GRCm39) T2305I possibly damaging Het
Cwf19l1 G A 19: 44,121,462 (GRCm39) Q29* probably null Het
Cwf19l2 G T 9: 3,456,817 (GRCm39) V717L probably benign Het
Cyp1a1 A G 9: 57,607,858 (GRCm39) Y162C probably damaging Het
Dlg5 T C 14: 24,216,275 (GRCm39) D589G probably damaging Het
Dmbt1 G T 7: 130,689,815 (GRCm39) probably null Het
Fancd2 T A 6: 113,526,313 (GRCm39) probably null Het
Frem2 T A 3: 53,443,184 (GRCm39) N2527Y probably damaging Het
Gm7694 T C 1: 170,130,113 (GRCm39) D95G probably benign Het
Haus5 T C 7: 30,361,196 (GRCm39) T115A probably benign Het
Kdm3a A T 6: 71,569,184 (GRCm39) probably benign Het
Klra6 T C 6: 129,993,680 (GRCm39) D197G possibly damaging Het
Lap3 T C 5: 45,668,475 (GRCm39) V429A probably damaging Het
Mroh2b G T 15: 4,981,042 (GRCm39) probably benign Het
Myh9 T A 15: 77,660,004 (GRCm39) Q88L probably damaging Het
Myo5a T C 9: 75,083,900 (GRCm39) probably benign Het
Negr1 C T 3: 156,267,827 (GRCm39) probably benign Het
Niban1 A T 1: 151,593,025 (GRCm39) D570V probably damaging Het
Nlrp9b T G 7: 19,776,426 (GRCm39) C337W probably damaging Het
Obscn A T 11: 58,957,988 (GRCm39) C3780S probably damaging Het
Or1e19 A T 11: 73,316,487 (GRCm39) F107L probably damaging Het
Piwil2 T A 14: 70,635,583 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,516,580 (GRCm39) S213G probably null Het
Pxdn T A 12: 30,034,531 (GRCm39) C39S probably damaging Het
Raf1 T C 6: 115,608,288 (GRCm39) N241S probably benign Het
Rapgef3 A T 15: 97,645,017 (GRCm39) probably null Het
Rhox2h C T X: 36,854,526 (GRCm39) G72D probably benign Het
Sbf1 T C 15: 89,190,188 (GRCm39) probably benign Het
Sema5a T C 15: 32,673,690 (GRCm39) probably benign Het
Setbp1 T C 18: 78,900,688 (GRCm39) D993G probably damaging Het
Slc5a4b A T 10: 75,894,713 (GRCm39) C598S possibly damaging Het
Sorl1 T C 9: 41,952,986 (GRCm39) D685G probably damaging Het
Sulf2 C T 2: 165,931,218 (GRCm39) R263H probably damaging Het
Tbx22 C A X: 106,724,777 (GRCm39) P17T probably damaging Het
Tspoap1 A T 11: 87,653,341 (GRCm39) T136S probably benign Het
Tyw5 T C 1: 57,427,884 (GRCm39) E240G possibly damaging Het
Umodl1 C T 17: 31,187,415 (GRCm39) probably benign Het
Vmn1r60 T C 7: 5,547,780 (GRCm39) T107A probably damaging Het
Zbbx T C 3: 75,046,905 (GRCm39) T121A probably benign Het
Zbtb11 A G 16: 55,802,713 (GRCm39) D241G possibly damaging Het
Zfp445 T C 9: 122,681,295 (GRCm39) H882R probably benign Het
Zscan30 T C 18: 24,104,533 (GRCm39) noncoding transcript Het
Other mutations in Dtna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Dtna APN 18 23,730,545 (GRCm39) missense probably benign 0.22
IGL01620:Dtna APN 18 23,758,144 (GRCm39) missense probably damaging 1.00
IGL01705:Dtna APN 18 23,678,788 (GRCm39) missense probably damaging 1.00
IGL01914:Dtna APN 18 23,730,516 (GRCm39) missense possibly damaging 0.62
IGL02388:Dtna APN 18 23,730,571 (GRCm39) missense probably benign 0.00
IGL03074:Dtna APN 18 23,735,662 (GRCm39) missense possibly damaging 0.74
R0041:Dtna UTSW 18 23,779,932 (GRCm39) unclassified probably benign
R0041:Dtna UTSW 18 23,779,932 (GRCm39) unclassified probably benign
R0078:Dtna UTSW 18 23,754,499 (GRCm39) missense probably damaging 1.00
R0390:Dtna UTSW 18 23,730,558 (GRCm39) missense probably damaging 1.00
R1808:Dtna UTSW 18 23,702,697 (GRCm39) missense probably damaging 1.00
R1872:Dtna UTSW 18 23,730,617 (GRCm39) critical splice donor site probably null
R2095:Dtna UTSW 18 23,702,805 (GRCm39) missense probably damaging 1.00
R2216:Dtna UTSW 18 23,702,622 (GRCm39) missense probably damaging 1.00
R2295:Dtna UTSW 18 23,764,469 (GRCm39) missense probably damaging 1.00
R2402:Dtna UTSW 18 23,728,535 (GRCm39) nonsense probably null
R2846:Dtna UTSW 18 23,784,560 (GRCm39) splice site probably null
R3836:Dtna UTSW 18 23,758,159 (GRCm39) missense probably damaging 1.00
R4764:Dtna UTSW 18 23,668,206 (GRCm39) splice site probably null
R4893:Dtna UTSW 18 23,702,724 (GRCm39) missense probably damaging 0.99
R5194:Dtna UTSW 18 23,723,302 (GRCm39) nonsense probably null
R5373:Dtna UTSW 18 23,784,670 (GRCm39) missense probably damaging 1.00
R5374:Dtna UTSW 18 23,784,670 (GRCm39) missense probably damaging 1.00
R5526:Dtna UTSW 18 23,779,287 (GRCm39) missense probably damaging 0.99
R5755:Dtna UTSW 18 23,754,520 (GRCm39) missense probably benign
R5769:Dtna UTSW 18 23,784,611 (GRCm39) missense probably benign 0.27
R6062:Dtna UTSW 18 23,755,113 (GRCm39) missense possibly damaging 0.87
R6413:Dtna UTSW 18 23,755,071 (GRCm39) missense probably damaging 1.00
R6876:Dtna UTSW 18 23,744,167 (GRCm39) missense probably benign 0.00
R7103:Dtna UTSW 18 23,786,436 (GRCm39) critical splice donor site probably null
R7711:Dtna UTSW 18 23,758,253 (GRCm39) critical splice donor site probably null
R7804:Dtna UTSW 18 23,728,666 (GRCm39) missense probably damaging 0.97
R8156:Dtna UTSW 18 23,723,388 (GRCm39) nonsense probably null
R8437:Dtna UTSW 18 23,723,398 (GRCm39) nonsense probably null
R8786:Dtna UTSW 18 23,716,190 (GRCm39) missense probably benign 0.10
R9038:Dtna UTSW 18 23,743,553 (GRCm39) missense probably benign
R9268:Dtna UTSW 18 23,702,643 (GRCm39) missense possibly damaging 0.93
R9416:Dtna UTSW 18 23,780,112 (GRCm39) critical splice donor site probably null
R9578:Dtna UTSW 18 23,728,612 (GRCm39) missense probably damaging 0.98
R9605:Dtna UTSW 18 23,764,454 (GRCm39) missense probably damaging 1.00
R9638:Dtna UTSW 18 23,744,122 (GRCm39) missense probably benign
X0063:Dtna UTSW 18 23,776,225 (GRCm39) missense probably damaging 0.98
X0066:Dtna UTSW 18 23,726,038 (GRCm39) missense probably benign 0.38
Posted On 2015-04-16