Incidental Mutation 'IGL02388:Dtna'
ID 291643
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 # IGL02388
Quality Score
Chromosome 18
Chromosomal Location 23548192-23792772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23730571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 319 (M319I)
Ref Sequence ENSEMBL: ENSMUSP00000111498 (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: M319I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302
AA Change: M319I

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: M319I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: M319I

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 probably benign
Transcript: ENSMUST00000220904
AA Change: M319I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000221880
AA Change: M319I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930597O21Rik A T 6: 66,873,097 (GRCm39) probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Asphd1 A T 7: 126,545,884 (GRCm39) probably benign Het
Ccdc77 G A 6: 120,308,858 (GRCm39) A301V probably benign Het
Cep350 G T 1: 155,829,499 (GRCm39) T135K probably benign Het
Chrna7 A T 7: 62,757,439 (GRCm39) D153E probably damaging Het
Clec4b2 G T 6: 123,179,187 (GRCm39) probably null Het
Cyp2c67 T C 19: 39,631,799 (GRCm39) N133D probably benign Het
Dglucy T C 12: 100,823,257 (GRCm39) I484T probably damaging Het
E2f5 T A 3: 14,653,340 (GRCm39) M152K probably benign Het
Emsy A T 7: 98,290,873 (GRCm39) M58K probably damaging Het
Epha1 A G 6: 42,341,950 (GRCm39) Y367H probably damaging Het
Etv1 A G 12: 38,831,798 (GRCm39) S32G possibly damaging Het
Fam114a1 A T 5: 65,166,323 (GRCm39) probably benign Het
Fbxo30 T A 10: 11,166,122 (GRCm39) N281K probably benign Het
Galnt12 G T 4: 47,117,941 (GRCm39) R412L probably damaging Het
Gm5786 T A 12: 59,128,382 (GRCm39) noncoding transcript Het
Gm9845 T C 3: 39,412,616 (GRCm39) noncoding transcript Het
Hecw2 A G 1: 53,964,858 (GRCm39) V656A probably benign Het
Hpse2 A T 19: 43,282,692 (GRCm39) V187D probably damaging Het
Itsn2 T A 12: 4,679,557 (GRCm39) M122K possibly damaging Het
Kcnj11 A G 7: 45,749,213 (GRCm39) S37P probably benign Het
Kif13b T C 14: 65,037,807 (GRCm39) I1491T probably damaging Het
Krt36 T A 11: 99,995,990 (GRCm39) K145* probably null Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mical2 C A 7: 111,934,620 (GRCm39) H880N probably benign Het
Myo1d A T 11: 80,528,823 (GRCm39) C666* probably null Het
Nlrx1 C T 9: 44,175,302 (GRCm39) R158H probably benign Het
Or10ag53 T A 2: 87,082,295 (GRCm39) Y5N probably benign Het
Or10q1 C A 19: 13,726,994 (GRCm39) H175N possibly damaging Het
Or13a17 A G 7: 140,271,024 (GRCm39) T69A probably benign Het
Or1e21 A T 11: 73,344,106 (GRCm39) L311I probably benign Het
Or4a78 T C 2: 89,497,316 (GRCm39) S305G probably benign Het
Pdgfrl A G 8: 41,430,094 (GRCm39) R154G probably benign Het
Pitpnb T C 5: 111,478,699 (GRCm39) F7S possibly damaging Het
Ppm1n G A 7: 19,013,097 (GRCm39) R285C probably damaging Het
Prdm11 A T 2: 92,805,957 (GRCm39) I331N possibly damaging Het
Ptprb C T 10: 116,203,426 (GRCm39) P2066L probably damaging Het
Ric8b T C 10: 84,828,135 (GRCm39) probably benign Het
Setx A G 2: 29,063,665 (GRCm39) I2320M probably damaging Het
Skil C A 3: 31,165,787 (GRCm39) S368* probably null Het
Slc1a5 G T 7: 16,519,644 (GRCm39) probably null Het
Trpm7 A C 2: 126,661,811 (GRCm39) V1079G possibly damaging Het
Tulp1 A G 17: 28,577,633 (GRCm39) F2L probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Zbtb17 A G 4: 141,189,224 (GRCm39) Y48C probably damaging Het
Zfp605 T A 5: 110,275,506 (GRCm39) I208N possibly damaging 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
IGL02427:Dtna APN 18 23,784,595 (GRCm39) missense possibly damaging 0.95
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