Incidental Mutation 'R5265:Dag1'
ID 401666
Institutional Source Beutler Lab
Gene Symbol Dag1
Ensembl Gene ENSMUSG00000039952
Gene Name dystroglycan 1
Synonyms beta-dystroglycan, dystrophin associated glycoprotein 1, DG, alpha-dystroglycan, D9Wsu13e
MMRRC Submission 042833-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108082060-108141176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108084898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 748 (Y748H)
Ref Sequence ENSEMBL: ENSMUSP00000142109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080435] [ENSMUST00000166905] [ENSMUST00000171412] [ENSMUST00000191899]
AlphaFold Q62165
Predicted Effect possibly damaging
Transcript: ENSMUST00000080435
AA Change: Y748H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: Y748H

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 possibly damaging
Transcript: ENSMUST00000166905
AA Change: Y748H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: Y748H

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 possibly damaging
Transcript: ENSMUST00000171412
AA Change: Y748H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: Y748H

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 possibly damaging
Transcript: ENSMUST00000191899
AA Change: Y748H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: Y748H

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
Meta Mutation Damage Score 0.8315 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging Het
Other mutations in Dag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Dag1 APN 9 108,086,487 (GRCm39) missense probably damaging 0.99
IGL00780:Dag1 APN 9 108,086,818 (GRCm39) missense probably damaging 1.00
IGL01488:Dag1 APN 9 108,085,502 (GRCm39) missense probably benign 0.33
IGL01843:Dag1 APN 9 108,085,281 (GRCm39) missense possibly damaging 0.92
IGL02140:Dag1 APN 9 108,095,391 (GRCm39) missense probably damaging 1.00
IGL02980:Dag1 UTSW 9 108,095,237 (GRCm39) missense probably benign 0.02
R0037:Dag1 UTSW 9 108,084,552 (GRCm39) missense probably damaging 0.99
R0172:Dag1 UTSW 9 108,086,031 (GRCm39) missense possibly damaging 0.58
R0513:Dag1 UTSW 9 108,085,684 (GRCm39) missense possibly damaging 0.93
R1715:Dag1 UTSW 9 108,085,914 (GRCm39) missense possibly damaging 0.92
R2328:Dag1 UTSW 9 108,086,451 (GRCm39) missense probably damaging 0.99
R2337:Dag1 UTSW 9 108,084,596 (GRCm39) nonsense probably null
R3765:Dag1 UTSW 9 108,085,398 (GRCm39) missense probably damaging 1.00
R4478:Dag1 UTSW 9 108,085,929 (GRCm39) missense probably damaging 1.00
R5000:Dag1 UTSW 9 108,085,216 (GRCm39) missense probably benign
R5127:Dag1 UTSW 9 108,084,771 (GRCm39) missense possibly damaging 0.86
R5235:Dag1 UTSW 9 108,084,897 (GRCm39) missense probably damaging 0.98
R5315:Dag1 UTSW 9 108,086,316 (GRCm39) missense probably damaging 1.00
R5620:Dag1 UTSW 9 108,086,214 (GRCm39) missense probably damaging 1.00
R5696:Dag1 UTSW 9 108,086,646 (GRCm39) missense probably benign 0.09
R5731:Dag1 UTSW 9 108,095,310 (GRCm39) missense probably benign
R6382:Dag1 UTSW 9 108,085,336 (GRCm39) missense possibly damaging 0.83
R6652:Dag1 UTSW 9 108,086,289 (GRCm39) missense probably damaging 1.00
R6757:Dag1 UTSW 9 108,095,216 (GRCm39) missense probably damaging 0.99
R6870:Dag1 UTSW 9 108,086,457 (GRCm39) missense probably damaging 1.00
R7316:Dag1 UTSW 9 108,086,701 (GRCm39) missense probably benign 0.00
R7343:Dag1 UTSW 9 108,086,292 (GRCm39) missense possibly damaging 0.88
R7543:Dag1 UTSW 9 108,095,280 (GRCm39) missense probably benign
R7733:Dag1 UTSW 9 108,086,047 (GRCm39) missense probably benign 0.33
R9127:Dag1 UTSW 9 108,085,734 (GRCm39) nonsense probably null
R9193:Dag1 UTSW 9 108,085,467 (GRCm39) missense possibly damaging 0.96
Z1088:Dag1 UTSW 9 108,085,867 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGAGTCATCCAGCTCATCCG -3'
(R):5'- AGCAGATCATAGGGCTGAGC -3'

Sequencing Primer
(F):5'- TCATCCGCAAAGATGATAGGC -3'
(R):5'- AAATGGGAAGCCTCGTCCTG -3'
Posted On 2016-07-06