Incidental Mutation 'IGL00780:Dag1'
ID10056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dag1
Ensembl Gene ENSMUSG00000039952
Gene Namedystroglycan 1
SynonymsD9Wsu13e, dystrophin associated glycoprotein 1, beta-dystroglycan, DG, alpha-dystroglycan
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock #IGL00780
Quality Score
Status
Chromosome9
Chromosomal Location108204634-108263958 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108209619 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 108 (W108R)
Ref Sequence ENSEMBL: ENSMUSP00000142109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080435] [ENSMUST00000166905] [ENSMUST00000171412] [ENSMUST00000191899]
Predicted Effect probably damaging
Transcript: ENSMUST00000080435
AA Change: W108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: W108R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CADG 60 161 1.43e-11 SMART
low complexity region 338 351 N/A INTRINSIC
low complexity region 409 465 N/A INTRINSIC
CADG 496 600 4.74e-26 SMART
Pfam:DAG1 604 893 1.1e-159 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166905
AA Change: W108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: W108R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CADG 60 161 1.43e-11 SMART
low complexity region 338 351 N/A INTRINSIC
low complexity region 409 465 N/A INTRINSIC
CADG 496 600 4.74e-26 SMART
Pfam:DAG1 604 893 1.5e-159 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171412
AA Change: W108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: W108R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CADG 60 161 1.43e-11 SMART
low complexity region 338 351 N/A INTRINSIC
low complexity region 409 465 N/A INTRINSIC
CADG 496 600 4.74e-26 SMART
Pfam:DAG1 604 893 1.1e-159 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191899
AA Change: W108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: W108R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CADG 60 161 1.43e-11 SMART
low complexity region 338 351 N/A INTRINSIC
low complexity region 409 465 N/A INTRINSIC
CADG 496 600 4.74e-26 SMART
Pfam:DAG1 604 893 1.1e-159 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. A complete lack of the encoded protein in mice results in embryonic lethality due to the disorganization of Reichert's membrane. Chimeric mice deficient in the encoded protein overcome embryonic lethality but develop a progressive muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mutant embryos show gross abnormalities, particularly defective Reichert's membrane by 6.5 days, indicating a possible role for this gene product in basement membrane organization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,422,367 T355A probably damaging Het
Abi3bp A G 16: 56,602,805 D440G probably null Het
Acvrl1 T A 15: 101,137,367 F258Y probably damaging Het
Ano1 A G 7: 144,655,630 S278P probably damaging Het
AW146154 T C 7: 41,480,459 Y411C probably damaging Het
Blnk T A 19: 40,934,446 K412M probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Dach1 A T 14: 97,901,422 N528K possibly damaging Het
Fbn2 T C 18: 58,095,988 T717A probably damaging Het
Fnbp1l T C 3: 122,549,249 D394G possibly damaging Het
Gaa T A 11: 119,274,291 probably null Het
Gpr158 A T 2: 21,826,818 K910* probably null Het
Grb14 G A 2: 64,914,718 P99S probably damaging Het
Gtf2h2 T C 13: 100,479,221 D264G probably benign Het
Heatr3 A G 8: 88,170,940 I667V probably benign Het
Hsp90ab1 T C 17: 45,569,564 N407S probably damaging Het
Htr2a A T 14: 74,706,205 L408F possibly damaging Het
Itgb5 G A 16: 33,884,975 V212I probably damaging Het
Kmt2c G A 5: 25,311,051 T2598I probably benign Het
Lcorl T C 5: 45,747,295 N137S probably damaging Het
Lef1 T C 3: 131,193,130 F212L possibly damaging Het
Map2k5 T C 9: 63,281,077 probably benign Het
Med15 G A 16: 17,653,487 T642I probably damaging Het
Nasp C A 4: 116,603,999 E274* probably null Het
Nup210l A T 3: 90,190,849 probably benign Het
Pgghg T C 7: 140,945,351 probably null Het
Plpp1 A G 13: 112,851,506 I54M probably damaging Het
Poldip3 C T 15: 83,138,479 G35R probably damaging Het
Ppig A T 2: 69,732,924 E81D possibly damaging Het
Ptpn21 G T 12: 98,680,371 T999K probably damaging Het
Rad9b T C 5: 122,344,247 I142V probably benign Het
Ralgps1 A T 2: 33,273,627 H139Q probably damaging Het
Rdh16f2 T C 10: 127,875,092 probably null Het
Sema3d G A 5: 12,524,326 R265Q probably damaging Het
Svs1 A G 6: 48,987,739 D227G probably damaging Het
Tdp1 T C 12: 99,893,648 V198A possibly damaging Het
Trim43c A T 9: 88,841,856 D145V probably benign Het
Trpc4 C T 3: 54,302,175 P654S probably damaging Het
Yy1 T G 12: 108,815,537 I376S probably damaging Het
Zfp773 T A 7: 7,133,114 Q161L probably benign Het
Other mutations in Dag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Dag1 APN 9 108209288 missense probably damaging 0.99
IGL01488:Dag1 APN 9 108208303 missense probably benign 0.33
IGL01843:Dag1 APN 9 108208082 missense possibly damaging 0.92
IGL02140:Dag1 APN 9 108218192 missense probably damaging 1.00
IGL02980:Dag1 UTSW 9 108218038 missense probably benign 0.02
R0037:Dag1 UTSW 9 108207353 missense probably damaging 0.99
R0172:Dag1 UTSW 9 108208832 missense possibly damaging 0.58
R0513:Dag1 UTSW 9 108208485 missense possibly damaging 0.93
R1715:Dag1 UTSW 9 108208715 missense possibly damaging 0.92
R2328:Dag1 UTSW 9 108209252 missense probably damaging 0.99
R2337:Dag1 UTSW 9 108207397 nonsense probably null
R3765:Dag1 UTSW 9 108208199 missense probably damaging 1.00
R4478:Dag1 UTSW 9 108208730 missense probably damaging 1.00
R5000:Dag1 UTSW 9 108208017 missense probably benign
R5127:Dag1 UTSW 9 108207572 missense possibly damaging 0.86
R5235:Dag1 UTSW 9 108207698 missense probably damaging 0.98
R5265:Dag1 UTSW 9 108207699 missense possibly damaging 0.93
R5315:Dag1 UTSW 9 108209117 missense probably damaging 1.00
R5620:Dag1 UTSW 9 108209015 missense probably damaging 1.00
R5696:Dag1 UTSW 9 108209447 missense probably benign 0.09
R5731:Dag1 UTSW 9 108218111 missense probably benign
R6382:Dag1 UTSW 9 108208137 missense possibly damaging 0.83
R6652:Dag1 UTSW 9 108209090 missense probably damaging 1.00
R6757:Dag1 UTSW 9 108218017 missense probably damaging 0.99
R6870:Dag1 UTSW 9 108209258 missense probably damaging 1.00
Z1088:Dag1 UTSW 9 108208668 missense possibly damaging 0.85
Posted On2012-12-06