Incidental Mutation 'R9638:Dtna'
ID 725854
Institutional Source Beutler Lab
Gene Symbol Dtna
Ensembl Gene ENSMUSG00000024302
Gene Name dystrobrevin alpha
Synonyms a-DB-1, A0, alpha-dystrobrevin, 2210407P21Rik, 87K protein, Dtn, adbn
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R9638 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 23548192-23792772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23744122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 389 (I389L)
Ref Sequence ENSEMBL: ENSMUSP00000152288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000221880]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000115832
SMART Domains Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302

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: I389L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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
Abca1 T G 4: 53,092,806 (GRCm39) E326A probably damaging Het
Aldh1a1 T A 19: 20,614,100 (GRCm39) N423K probably benign Het
Aldh4a1 T A 4: 139,371,427 (GRCm39) I447N probably damaging Het
Atg9b T C 5: 24,596,406 (GRCm39) D170G possibly damaging Het
Bnc2 C T 4: 84,332,492 (GRCm39) V75M probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Ccdc162 C A 10: 41,437,159 (GRCm39) C1750F probably benign Het
Cdh10 T A 15: 18,964,301 (GRCm39) N154K probably damaging Het
Cdh22 T C 2: 164,988,687 (GRCm39) I223V probably damaging Het
Ces1b T A 8: 93,806,534 (GRCm39) H4L probably benign Het
Cfap46 A T 7: 139,209,763 (GRCm39) F1806I unknown Het
Cwh43 T A 5: 73,565,486 (GRCm39) V17D possibly damaging Het
Ddx3y C T Y: 1,263,599 (GRCm39) G623D probably benign Het
F830016B08Rik A G 18: 60,432,956 (GRCm39) D13G probably benign Het
Fam161b T C 12: 84,403,187 (GRCm39) I148V probably benign Het
Fhip1a T A 3: 85,568,391 (GRCm39) N1043Y probably damaging Het
Fli1 T C 9: 32,388,020 (GRCm39) Y23C probably damaging Het
Gimap6 A G 6: 48,679,424 (GRCm39) V204A probably benign Het
Ighv4-1 T G 12: 113,911,904 (GRCm39) R116S probably damaging Het
Isx T C 8: 75,619,566 (GRCm39) L239P probably damaging Het
Krt81 T C 15: 101,358,856 (GRCm39) T299A probably benign Het
Lrrc30 A G 17: 67,939,226 (GRCm39) L118P probably damaging Het
Mapk8ip3 T C 17: 25,118,023 (GRCm39) T1290A probably benign Het
Mef2b ACCCTCACCC ACC 8: 70,619,506 (GRCm39) probably null Het
Meltf G A 16: 31,706,409 (GRCm39) E298K possibly damaging Het
Muc16 T A 9: 18,550,626 (GRCm39) E5222D probably benign Het
Nin T C 12: 70,067,618 (GRCm39) N2003S Het
Or1e23 A G 11: 73,407,875 (GRCm39) I50T probably benign Het
Or2b4 G A 17: 38,116,509 (GRCm39) V158M probably damaging Het
Or51f1d T C 7: 102,701,018 (GRCm39) L171P probably damaging Het
Palld A G 8: 62,002,788 (GRCm39) V826A unknown Het
Paxbp1 C A 16: 90,831,881 (GRCm39) V336L probably benign Het
Paxbp1 T A 16: 90,831,882 (GRCm39) E335D probably benign Het
Por C A 5: 135,754,615 (GRCm39) Q12K unknown Het
Pot1a G A 6: 25,750,106 (GRCm39) Q519* probably null Het
Psd GCC GC 19: 46,301,841 (GRCm39) probably null Het
Ptger4 A G 15: 5,264,693 (GRCm39) F321S probably damaging Het
Ptk7 A G 17: 46,890,519 (GRCm39) Y438H possibly damaging Het
Rimklb A T 6: 122,433,558 (GRCm39) N254K probably benign Het
Rpn2 A T 2: 157,125,566 (GRCm39) T26S probably benign Het
Rtn4rl2 A T 2: 84,710,760 (GRCm39) L168H probably damaging Het
Scel G T 14: 103,779,409 (GRCm39) A127S possibly damaging Het
Sema4a T A 3: 88,357,066 (GRCm39) N302Y probably damaging Het
Supt3 A G 17: 45,234,133 (GRCm39) T50A possibly damaging Het
Upf3a G A 8: 13,848,343 (GRCm39) A380T probably benign Het
Zbtb14 G A 17: 69,695,375 (GRCm39) E358K probably damaging Het
Zfp677 A T 17: 21,618,056 (GRCm39) H371L probably 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
IGL02388:Dtna APN 18 23,730,571 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-09-12