Incidental Mutation 'R5172:Dmpk'
| ID |
398809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmpk
|
| Ensembl Gene |
ENSMUSG00000030409 |
| Gene Name |
dystrophia myotonica-protein kinase |
| Synonyms |
Dm15, DM |
| MMRRC Submission |
042752-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.421)
|
| Stock # |
R5172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18817774-18827746 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 18821944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 301
(L301V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032568]
[ENSMUST00000108473]
[ENSMUST00000108474]
[ENSMUST00000122999]
[ENSMUST00000154199]
|
| AlphaFold |
P54265 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032568
AA Change: L301V
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000032568
Gene: ENSMUSG00000030409
AA Change: L301V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
339 |
6.5e-87 |
SMART |
|
S_TK_X
|
340 |
407 |
3.6e-11 |
SMART |
|
Pfam:DMPK_coil
|
472 |
532 |
2.8e-25 |
PFAM |
|
low complexity region
|
590 |
613 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108473
AA Change: L301V
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104113
Gene: ENSMUSG00000030409
AA Change: L301V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
339 |
1.36e-84 |
SMART |
|
S_TK_X
|
340 |
407 |
7.5e-9 |
SMART |
|
Pfam:DMPK_coil
|
472 |
532 |
2.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108474
AA Change: L301V
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104114
Gene: ENSMUSG00000030409
AA Change: L301V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
336 |
2.57e-76 |
SMART |
|
Pfam:DMPK_coil
|
446 |
506 |
2.4e-28 |
PFAM |
|
low complexity region
|
564 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122999
|
| SMART Domains |
Protein: ENSMUSP00000123516
Gene: ENSMUSG00000030409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
PDB:2VD5|B
|
32 |
139 |
3e-62 |
PDB |
|
SCOP:d1koba_
|
44 |
139 |
3e-21 |
SMART |
|
Blast:S_TKc
|
71 |
139 |
7e-36 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137219
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154199
AA Change: L301V
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118459
Gene: ENSMUSG00000030409
AA Change: L301V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
339 |
1.36e-84 |
SMART |
|
S_TK_X
|
340 |
402 |
5.3e-9 |
SMART |
|
Pfam:DMPK_coil
|
467 |
527 |
2.3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174918
|
| Meta Mutation Damage Score |
0.0903 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a serine/threonine protein kinase that contains coiled-coil and C-terminal membrane association domains. In the embryonic mouse, it is found in cardiac and skeletal myocytes where it appears to play a role in myogenesis. In adults, the transcript is localized to several tissues including brain, heart, and skeletal and smooth muscle, and a function in cytoskeletal remodeling has been described. Transcripts with expanded CUG repeats in the 3' untranslated region mediate alternative splicing of several genes and sequester RNA binding proteins and RNA transcripts that contain CAG repeats, resulting in myotonic dystrophy, an autosomal dominant neuromuscular disorder. Alternative splicing results in multiple protein coding and non-coding transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a null mutation exhibit abnormal sodium channel gating in cardiac myocytes, cardiac conduction defects, and late-onset progressive skeletal myopathy. Homozygotes for a second null mutation do not develop skeletal myopathy but do have abnormal muscle intracellular calcium levels. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,266,434 (GRCm39) |
Y52C |
probably damaging |
Het |
| Acmsd |
C |
T |
1: 127,681,585 (GRCm39) |
R183* |
probably null |
Het |
| Anxa2 |
T |
A |
9: 69,392,533 (GRCm39) |
D127E |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,673,945 (GRCm39) |
Y593* |
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,933,098 (GRCm39) |
|
probably null |
Het |
| Ccl6 |
A |
T |
11: 83,480,169 (GRCm39) |
Y66N |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,642,113 (GRCm39) |
V223A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,269,556 (GRCm39) |
Y1187H |
probably benign |
Het |
| Cfc1 |
A |
T |
1: 34,575,011 (GRCm39) |
I10F |
probably benign |
Het |
| Chrne |
T |
A |
11: 70,506,352 (GRCm39) |
T365S |
probably benign |
Het |
| Clec4b1 |
G |
T |
6: 123,048,414 (GRCm39) |
R183L |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,371,190 (GRCm39) |
Q1926P |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,563 (GRCm39) |
Q570L |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,797,690 (GRCm39) |
Q507L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,339,195 (GRCm39) |
V496A |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,259,016 (GRCm39) |
D589E |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,206,631 (GRCm39) |
E4G |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,569,508 (GRCm39) |
D796G |
possibly damaging |
Het |
| Lemd2 |
G |
T |
17: 27,414,356 (GRCm39) |
S326* |
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,163,982 (GRCm39) |
S1177P |
probably benign |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,083 (GRCm39) |
F78S |
probably damaging |
Het |
| Mmgt2 |
T |
A |
11: 62,555,954 (GRCm39) |
F101I |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,924 (GRCm39) |
L785P |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,139,026 (GRCm39) |
Q33K |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,734,884 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,699,171 (GRCm39) |
T279A |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,818,202 (GRCm39) |
C112* |
probably null |
Het |
| Pcmtd1 |
T |
A |
1: 7,233,485 (GRCm39) |
M23K |
probably benign |
Het |
| Rere |
A |
T |
4: 150,654,726 (GRCm39) |
R419S |
unknown |
Het |
| Rpf1 |
T |
C |
3: 146,218,050 (GRCm39) |
R155G |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,961 (GRCm39) |
T421A |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,231,741 (GRCm39) |
S323P |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,764,147 (GRCm39) |
E180G |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,615 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sult6b2 |
A |
T |
6: 142,743,657 (GRCm39) |
V123D |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,536,951 (GRCm39) |
|
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,761 (GRCm39) |
N38I |
probably damaging |
Het |
| Wdr93 |
T |
A |
7: 79,402,241 (GRCm39) |
I180N |
probably damaging |
Het |
| Ythdf3 |
C |
T |
3: 16,258,198 (GRCm39) |
T119I |
probably damaging |
Het |
| Zc3h18 |
T |
G |
8: 123,134,159 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dmpk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02198:Dmpk
|
APN |
7 |
18,822,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02874:Dmpk
|
APN |
7 |
18,820,926 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02942:Dmpk
|
APN |
7 |
18,826,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03081:Dmpk
|
APN |
7 |
18,821,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03258:Dmpk
|
APN |
7 |
18,826,131 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03302:Dmpk
|
APN |
7 |
18,820,411 (GRCm39) |
splice site |
probably benign |
|
|
P0008:Dmpk
|
UTSW |
7 |
18,821,987 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0388:Dmpk
|
UTSW |
7 |
18,818,002 (GRCm39) |
unclassified |
probably benign |
|
|
R0961:Dmpk
|
UTSW |
7 |
18,821,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3103:Dmpk
|
UTSW |
7 |
18,821,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Dmpk
|
UTSW |
7 |
18,826,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3158:Dmpk
|
UTSW |
7 |
18,826,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3159:Dmpk
|
UTSW |
7 |
18,826,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3498:Dmpk
|
UTSW |
7 |
18,820,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:Dmpk
|
UTSW |
7 |
18,822,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Dmpk
|
UTSW |
7 |
18,821,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4991:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5156:Dmpk
|
UTSW |
7 |
18,818,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5170:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5171:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5198:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5200:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5202:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5205:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5383:Dmpk
|
UTSW |
7 |
18,821,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5449:Dmpk
|
UTSW |
7 |
18,824,916 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5639:Dmpk
|
UTSW |
7 |
18,826,525 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5874:Dmpk
|
UTSW |
7 |
18,826,007 (GRCm39) |
intron |
probably benign |
|
|
R6939:Dmpk
|
UTSW |
7 |
18,822,149 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7133:Dmpk
|
UTSW |
7 |
18,821,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Dmpk
|
UTSW |
7 |
18,819,997 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8032:Dmpk
|
UTSW |
7 |
18,821,978 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8234:Dmpk
|
UTSW |
7 |
18,822,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8886:Dmpk
|
UTSW |
7 |
18,825,886 (GRCm39) |
unclassified |
probably benign |
|
|
R9052:Dmpk
|
UTSW |
7 |
18,821,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9235:Dmpk
|
UTSW |
7 |
18,822,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Dmpk
|
UTSW |
7 |
18,824,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTAGTGGCTTGTGCTCC -3'
(R):5'- CTCGAAGTCTGGTGTAAAGGGG -3'
Sequencing Primer
(F):5'- TAGTGGCTTGTGCTCCCAGAC -3'
(R):5'- GGGTACACTGTCTCGGAGACC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation