Incidental Mutation 'R5696:Dag1'
ID 450680
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108082060-108141176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108086646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 165 (V165E)
Ref Sequence ENSEMBL: ENSMUSP00000142109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080435] [ENSMUST00000166905] [ENSMUST00000171412] [ENSMUST00000191899]
AlphaFold Q62165
Predicted Effect probably benign
Transcript: ENSMUST00000080435
AA Change: V165E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: V165E

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 benign
Transcript: ENSMUST00000166905
AA Change: V165E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: V165E

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 benign
Transcript: ENSMUST00000171412
AA Change: V165E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: V165E

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 benign
Transcript: ENSMUST00000191899
AA Change: V165E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: V165E

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y 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
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
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'- TCTATTATTCACTACAGGCACCAAC -3'
(R):5'- AAGGAGGCCTTACCGTCTTG -3'

Sequencing Primer
(F):5'- TATTCACTACAGGCACCAACTTCATG -3'
(R):5'- TACCGTCTTGGCTACACTGGG -3'
Posted On 2017-01-03