Incidental Mutation 'IGL00164:Dag1'
ID1275
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 #IGL00164
Quality Score
Status
Chromosome9
Chromosomal Location108204634-108263958 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108209288 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 218 (V218A)
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: V218A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: V218A

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: V218A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: V218A

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: V218A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: V218A

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: V218A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: V218A

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,323,358 probably benign Het
Abcg4 A G 9: 44,275,142 probably benign Het
Actr2 A G 11: 20,080,015 probably benign Het
Adgrb3 A G 1: 25,228,500 L843P probably benign Het
Cdk19 G A 10: 40,436,165 D137N probably benign Het
Cuedc2 T A 19: 46,331,920 I71F probably damaging Het
Dlg5 A C 14: 24,158,464 S868R possibly damaging Het
Ecsit C T 9: 22,073,014 G340D probably benign Het
Fkbp8 A G 8: 70,534,561 M358V probably damaging Het
Gckr G A 5: 31,299,576 V79M probably damaging Het
Gpd1 C A 15: 99,720,651 D172E probably benign Het
Josd2 T C 7: 44,471,316 probably benign Het
Kcna2 T C 3: 107,104,630 S176P probably damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Notch1 G A 2: 26,460,046 R2361W probably damaging Het
Olfr1134 T C 2: 87,656,238 M228V probably benign Het
Palb2 A C 7: 122,121,048 probably benign Het
Pan2 C T 10: 128,312,926 Q452* probably null Het
Pcnx T C 12: 81,895,101 V91A probably damaging Het
Rgs22 T A 15: 36,099,931 I213F possibly damaging Het
Serpina3b G T 12: 104,138,787 W407C probably benign Het
Sf3b2 T C 19: 5,279,587 D687G probably benign Het
Slc8a3 T C 12: 81,314,569 E492G probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Surf1 C T 2: 26,913,572 probably null Het
Tmem190 T C 7: 4,782,999 probably benign Het
Zfhx2 A G 14: 55,065,026 S1834P possibly damaging Het
Zfp607a G A 7: 27,877,789 E95K possibly damaging Het
Other mutations in Dag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Dag1 APN 9 108209619 missense probably damaging 1.00
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 On2011-07-12