Incidental Mutation 'IGL03074:Dtna'
ID 417604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtna
Ensembl Gene ENSMUSG00000024302
Gene Name dystrobrevin alpha
Synonyms alpha-dystrobrevin, adbn, Dtn, a-DB-1, A0, 87K protein, 2210407P21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # IGL03074
Quality Score
Status
Chromosome 18
Chromosomal Location 23415135-23659715 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23602605 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 339 (V339A)
Ref Sequence ENSEMBL: ENSMUSP00000152288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047954] [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000221880]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047954
AA Change: V339A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302
AA Change: V339A

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 4.9e-43 PFAM
Pfam:EF-hand_3 144 232 7.8e-38 PFAM
ZnF_ZZ 237 282 1.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115832
AA Change: V339A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: V339A

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 possibly damaging
Transcript: ENSMUST00000220904
AA Change: V339A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000221880
AA Change: V339A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,310,275 Y433F probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anks4b A T 7: 120,181,917 D57V probably damaging Het
Brwd1 A G 16: 96,011,850 V1486A probably benign Het
Cd163 A G 6: 124,317,986 T670A probably benign Het
Dmtf1 T C 5: 9,124,435 probably benign Het
Dnajc22 T A 15: 99,101,522 L196Q probably damaging Het
Dock9 A G 14: 121,607,270 L1097P possibly damaging Het
Dysf T A 6: 84,188,226 S1646T probably benign Het
Ermp1 A T 19: 29,612,535 Y893N probably damaging Het
Etv6 A T 6: 134,222,925 N76I probably damaging Het
Farp2 T C 1: 93,560,327 V92A probably benign Het
Fgf21 T C 7: 45,614,181 T158A probably benign Het
Gcm1 T C 9: 78,064,775 S333P possibly damaging Het
Grm7 T A 6: 111,495,643 probably null Het
Itgae T C 11: 73,125,310 F782L probably benign Het
Kbtbd8 A G 6: 95,122,352 T204A probably damaging Het
Kcp A G 6: 29,496,631 C627R probably damaging Het
Loxhd1 T C 18: 77,441,784 V2041A possibly damaging Het
Mcm5 T C 8: 75,119,301 M379T possibly damaging Het
Mcu A G 10: 59,467,758 S86P probably damaging Het
Naa25 T C 5: 121,408,337 probably null Het
Olfr1129 T A 2: 87,575,336 L84H possibly damaging Het
Olfr1472 A G 19: 13,454,053 S155P probably damaging Het
Osbpl9 T C 4: 109,071,961 H400R probably damaging Het
Pip5kl1 A G 2: 32,580,341 N278D probably damaging Het
Ppp1r12b T C 1: 134,836,020 T759A probably benign Het
Psg27 T C 7: 18,560,529 T318A probably benign Het
Rtkn2 T G 10: 68,041,721 L537R probably damaging Het
Sdr39u1 C T 14: 55,899,646 probably null Het
Slc38a1 A T 15: 96,592,524 I124N possibly damaging Het
Sumf2 T A 5: 129,859,833 probably benign Het
Thsd7a A G 6: 12,324,681 Y1464H probably damaging Het
Unc80 C T 1: 66,671,718 probably benign Het
Zfp366 A G 13: 99,246,405 D692G probably benign Het
Other mutations in Dtna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Dtna APN 18 23597488 missense probably benign 0.22
IGL01620:Dtna APN 18 23625087 missense probably damaging 1.00
IGL01705:Dtna APN 18 23545731 missense probably damaging 1.00
IGL01914:Dtna APN 18 23597459 missense possibly damaging 0.62
IGL02388:Dtna APN 18 23597514 missense probably benign 0.00
IGL02427:Dtna APN 18 23651538 missense possibly damaging 0.95
R0041:Dtna UTSW 18 23646875 unclassified probably benign
R0041:Dtna UTSW 18 23646875 unclassified probably benign
R0078:Dtna UTSW 18 23621442 missense probably damaging 1.00
R0390:Dtna UTSW 18 23597501 missense probably damaging 1.00
R1808:Dtna UTSW 18 23569640 missense probably damaging 1.00
R1872:Dtna UTSW 18 23597560 critical splice donor site probably null
R2095:Dtna UTSW 18 23569748 missense probably damaging 1.00
R2216:Dtna UTSW 18 23569565 missense probably damaging 1.00
R2295:Dtna UTSW 18 23631412 missense probably damaging 1.00
R2402:Dtna UTSW 18 23595478 nonsense probably null
R2846:Dtna UTSW 18 23651503 splice site probably null
R3836:Dtna UTSW 18 23625102 missense probably damaging 1.00
R4764:Dtna UTSW 18 23535149 splice site probably null
R4893:Dtna UTSW 18 23569667 missense probably damaging 0.99
R5194:Dtna UTSW 18 23590245 nonsense probably null
R5373:Dtna UTSW 18 23651613 missense probably damaging 1.00
R5374:Dtna UTSW 18 23651613 missense probably damaging 1.00
R5526:Dtna UTSW 18 23646230 missense probably damaging 0.99
R5755:Dtna UTSW 18 23621463 missense probably benign
R5769:Dtna UTSW 18 23651554 missense probably benign 0.27
R6062:Dtna UTSW 18 23622056 missense possibly damaging 0.87
R6413:Dtna UTSW 18 23622014 missense probably damaging 1.00
R6876:Dtna UTSW 18 23611110 missense probably benign 0.00
R7103:Dtna UTSW 18 23653379 critical splice donor site probably null
R7711:Dtna UTSW 18 23625196 critical splice donor site probably null
R7804:Dtna UTSW 18 23595609 missense probably damaging 0.97
R8156:Dtna UTSW 18 23590331 nonsense probably null
R8437:Dtna UTSW 18 23590341 nonsense probably null
R8786:Dtna UTSW 18 23583133 missense probably benign 0.10
R9038:Dtna UTSW 18 23610496 missense probably benign
R9268:Dtna UTSW 18 23569586 missense possibly damaging 0.93
R9416:Dtna UTSW 18 23647055 critical splice donor site probably null
R9578:Dtna UTSW 18 23595555 missense probably damaging 0.98
R9605:Dtna UTSW 18 23631397 missense probably damaging 1.00
R9638:Dtna UTSW 18 23611065 missense probably benign
X0063:Dtna UTSW 18 23643168 missense probably damaging 0.98
X0066:Dtna UTSW 18 23592981 missense probably benign 0.38
Posted On 2016-08-02