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: 0.931)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |