Incidental Mutation 'R0172:Dag1'
ID 24281
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 038444-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R0172 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 108082060-108141176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108086031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 370 (T370M)
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: T370M

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: T370M

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: T370M

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: T370M

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: T370M

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: T370M

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: T370M

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: T370M

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 82% (40/49)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,645,578 (GRCm39) C488S probably damaging Het
Abca12 T G 1: 71,318,561 (GRCm39) D1814A probably damaging Het
Acp7 T C 7: 28,314,549 (GRCm39) N272S possibly damaging Het
Ank3 T C 10: 69,811,888 (GRCm39) V1145A probably damaging Het
Ap1m2 A T 9: 21,209,628 (GRCm39) probably null Het
Atp12a T C 14: 56,610,301 (GRCm39) V224A probably damaging Het
Cdh23 T C 10: 60,155,411 (GRCm39) E2253G probably damaging Het
Cep350 T C 1: 155,829,193 (GRCm39) N237S probably benign Het
Crispld2 T C 8: 120,752,810 (GRCm39) V286A possibly damaging Het
Cyp2c65 G T 19: 39,076,100 (GRCm39) V351L possibly damaging Het
D130043K22Rik T C 13: 25,056,389 (GRCm39) F574L probably benign Het
Dmwd C T 7: 18,814,267 (GRCm39) R306C probably damaging Het
Dnah11 T C 12: 117,951,188 (GRCm39) Y3040C probably damaging Het
Dst C A 1: 34,309,935 (GRCm39) H1536Q probably damaging Het
Eif3j1 A G 2: 121,882,246 (GRCm39) I202V probably benign Het
Epg5 T A 18: 78,070,574 (GRCm39) V2283D probably benign Het
Evi5 T C 5: 107,938,328 (GRCm39) N625S probably benign Het
Exosc10 T C 4: 148,649,814 (GRCm39) S415P probably benign Het
F830016B08Rik G T 18: 60,433,036 (GRCm39) D40Y possibly damaging Het
Fam118a A G 15: 84,929,951 (GRCm39) I60V probably benign Het
Fam186a A T 15: 99,852,768 (GRCm39) M150K unknown Het
Fam193a C T 5: 34,622,957 (GRCm39) R1182W probably damaging Het
Fastkd2 T A 1: 63,771,187 (GRCm39) I181K possibly damaging Het
Hip1r T A 5: 124,135,003 (GRCm39) Y380N possibly damaging Het
Hivep2 C A 10: 14,015,218 (GRCm39) P1795Q probably damaging Het
Hnrnpab T C 11: 51,493,494 (GRCm39) E238G probably damaging Het
Kcnma1 C T 14: 23,853,234 (GRCm39) A172T probably damaging Het
Lipg G T 18: 75,081,245 (GRCm39) H279N possibly damaging Het
Lrrc9 A G 12: 72,510,260 (GRCm39) D453G possibly damaging Het
Map1s T A 8: 71,367,612 (GRCm39) M839K probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myo1h T A 5: 114,467,225 (GRCm39) probably null Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nrn1 T C 13: 36,914,544 (GRCm39) R19G probably benign Het
Nwd2 T C 5: 63,963,712 (GRCm39) Y1099H probably benign Het
Nxpe2 G A 9: 48,231,209 (GRCm39) R387C possibly damaging Het
Or2a25 T C 6: 42,888,913 (GRCm39) V152A probably benign Het
Pappa2 C T 1: 158,682,419 (GRCm39) probably null Het
Pcdhb13 A T 18: 37,575,990 (GRCm39) I123L probably benign Het
Plcg2 A G 8: 118,306,521 (GRCm39) T292A probably benign Het
Pnpla8 T A 12: 44,358,111 (GRCm39) V469D probably damaging Het
Pop4 T C 7: 37,962,679 (GRCm39) Y195C probably damaging Het
Rbsn A T 6: 92,188,588 (GRCm39) D42E probably damaging Het
Sclt1 A T 3: 41,672,222 (GRCm39) I123N possibly damaging Het
Slc22a27 C A 19: 7,843,201 (GRCm39) G393* probably null Het
Smu1 C T 4: 40,738,439 (GRCm39) V432I probably benign Het
Sohlh1 A G 2: 25,736,215 (GRCm39) probably null Het
Spta1 T A 1: 174,058,352 (GRCm39) I1940K probably damaging Het
Sufu G T 19: 46,385,563 (GRCm39) V8F possibly damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem184b A G 15: 79,262,740 (GRCm39) V39A possibly damaging Het
Tmem236 A G 2: 14,223,694 (GRCm39) D161G probably benign Het
Ufl1 T C 4: 25,280,685 (GRCm39) K54R probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign 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
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
R5265:Dag1 UTSW 9 108,084,898 (GRCm39) missense possibly damaging 0.93
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'- CACCTACTAACTGCTGCTCTCGAAG -3'
(R):5'- CTACACCTGTTACTGCCATTGGACC -3'

Sequencing Primer
(F):5'- AGGCATCTACCCTGTCAATGTG -3'
(R):5'- TGCCATTGGACCCCCAAC -3'
Posted On 2013-04-16