Incidental Mutation 'R5127:Dag1'
| ID |
394822 |
| 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 |
042715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R5127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108082060-108141176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108084771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 790
(I790N)
|
| 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: I790N
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: I790N
| 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: I790N
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: I790N
| 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: I790N
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: I790N
| 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: I790N
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: I790N
| 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 |
0.7053 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
93% (42/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,902,826 (GRCm39) |
K497E |
probably damaging |
Het |
| 4933413J09Rik |
A |
G |
14: 26,097,462 (GRCm39) |
|
noncoding transcript |
Het |
| Aox1 |
A |
T |
1: 58,069,185 (GRCm39) |
I4F |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,148 (GRCm39) |
N300Y |
probably damaging |
Het |
| B530045E10Rik |
A |
G |
10: 99,257,983 (GRCm39) |
|
noncoding transcript |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,875,073 (GRCm39) |
E285G |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,722,249 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,696,067 (GRCm39) |
C2667R |
unknown |
Het |
| Cts8 |
C |
T |
13: 61,401,149 (GRCm39) |
V126M |
probably damaging |
Het |
| Ddit4 |
A |
G |
10: 59,786,491 (GRCm39) |
I186T |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,054,271 (GRCm39) |
|
probably benign |
Het |
| Farsa |
A |
G |
8: 85,595,593 (GRCm39) |
D495G |
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,957,567 (GRCm39) |
I157N |
probably damaging |
Het |
| Gm5773 |
T |
A |
3: 93,680,735 (GRCm39) |
W136R |
probably benign |
Het |
| Hpse |
C |
A |
5: 100,867,403 (GRCm39) |
A20S |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,887,634 (GRCm39) |
Y2477H |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 74,944,858 (GRCm39) |
V797A |
probably benign |
Het |
| Kptn |
T |
A |
7: 15,859,710 (GRCm39) |
C311* |
probably null |
Het |
| Lpcat2 |
A |
T |
8: 93,635,819 (GRCm39) |
N407I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,375,503 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
C |
T |
2: 144,159,780 (GRCm39) |
C120Y |
probably damaging |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,352 (GRCm39) |
E111* |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,809,713 (GRCm39) |
P106S |
probably benign |
Het |
| Plet1 |
C |
T |
9: 50,415,595 (GRCm39) |
T155I |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,671,621 (GRCm39) |
K444R |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,415 (GRCm39) |
I397N |
unknown |
Het |
| Ranbp1 |
A |
G |
16: 18,065,151 (GRCm39) |
|
probably null |
Het |
| Raver2 |
T |
C |
4: 100,960,182 (GRCm39) |
C221R |
probably damaging |
Het |
| Reps1 |
A |
G |
10: 17,969,628 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a16 |
G |
A |
10: 40,449,953 (GRCm39) |
V130I |
probably benign |
Het |
| Stmnd1 |
G |
A |
13: 46,453,071 (GRCm39) |
S249N |
probably benign |
Het |
| Styx |
A |
G |
14: 45,610,961 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
T |
G |
5: 87,669,407 (GRCm39) |
N147T |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,633,639 (GRCm39) |
|
probably benign |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,256,010 (GRCm39) |
E423G |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,654 (GRCm39) |
I66V |
probably benign |
Het |
| Wfdc10 |
C |
T |
2: 164,499,060 (GRCm39) |
Q57* |
probably null |
Het |
| Zeb1os1 |
T |
C |
18: 5,567,390 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp369 |
A |
T |
13: 65,426,847 (GRCm39) |
|
probably benign |
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 |
|
|
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'- GTGTGTACTCTCCCACAGTGTC -3'
(R):5'- AGTTTATCCCTGTGGCACC -3'
Sequencing Primer
(F):5'- CACAGTGTCCTGGTTCAGAG -3'
(R):5'- TCTCCTGGAAGCTCAGCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation