Incidental Mutation 'R5780:Dmkn'
| ID |
446933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmkn
|
| Ensembl Gene |
ENSMUSG00000060962 |
| Gene Name |
dermokine |
| Synonyms |
dermokine, sk30, sk89, Dmkn, cI-36, 1110014F24Rik |
| MMRRC Submission |
043205-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5780 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30463181-30480488 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30477040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 227
(D227G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041703]
[ENSMUST00000054427]
[ENSMUST00000085688]
[ENSMUST00000085691]
[ENSMUST00000165887]
[ENSMUST00000188578]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041703
AA Change: D28G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042300
Gene: ENSMUSG00000060962
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054427
AA Change: D441G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060362
Gene: ENSMUSG00000060962
AA Change: D441G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
22 |
50 |
5.96e-5 |
PROSPERO |
|
internal_repeat_2
|
25 |
53 |
3.87e-5 |
PROSPERO |
|
internal_repeat_2
|
45 |
73 |
3.87e-5 |
PROSPERO |
|
internal_repeat_3
|
65 |
94 |
5.96e-5 |
PROSPERO |
|
low complexity region
|
123 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
359 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
387 |
414 |
3.28e-7 |
PROSPERO |
|
internal_repeat_1
|
422 |
449 |
3.28e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085688
AA Change: D417G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000082831
Gene: ENSMUSG00000060962
AA Change: D417G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
22 |
50 |
6.61e-5 |
PROSPERO |
|
internal_repeat_2
|
25 |
53 |
4.31e-5 |
PROSPERO |
|
internal_repeat_2
|
45 |
73 |
4.31e-5 |
PROSPERO |
|
internal_repeat_3
|
65 |
94 |
6.61e-5 |
PROSPERO |
|
low complexity region
|
123 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
363 |
390 |
3.84e-7 |
PROSPERO |
|
internal_repeat_1
|
398 |
425 |
3.84e-7 |
PROSPERO |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085691
AA Change: D432G
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082834
Gene: ENSMUSG00000060962
AA Change: D432G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
22 |
50 |
6.12e-5 |
PROSPERO |
|
internal_repeat_2
|
25 |
53 |
3.97e-5 |
PROSPERO |
|
internal_repeat_2
|
45 |
73 |
3.97e-5 |
PROSPERO |
|
internal_repeat_3
|
65 |
94 |
6.12e-5 |
PROSPERO |
|
low complexity region
|
123 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
378 |
405 |
3.43e-7 |
PROSPERO |
|
internal_repeat_1
|
413 |
440 |
3.43e-7 |
PROSPERO |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165887
AA Change: D448G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129031
Gene: ENSMUSG00000060962
AA Change: D448G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
25 |
53 |
9.56e-5 |
PROSPERO |
|
internal_repeat_2
|
45 |
73 |
9.56e-5 |
PROSPERO |
|
low complexity region
|
123 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
394 |
421 |
1.01e-6 |
PROSPERO |
|
internal_repeat_1
|
429 |
456 |
1.01e-6 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188578
AA Change: D227G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140196
Gene: ENSMUSG00000060962
AA Change: D227G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
173 |
200 |
3.77e-7 |
PROSPERO |
|
internal_repeat_1
|
208 |
235 |
3.77e-7 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
C |
T |
1: 85,646,039 (GRCm39) |
A189T |
probably benign |
Het |
| Acsm4 |
A |
G |
7: 119,293,068 (GRCm39) |
E66G |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,699,290 (GRCm39) |
E578G |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,397,310 (GRCm39) |
D291E |
probably benign |
Het |
| Apoa4 |
A |
G |
9: 46,153,890 (GRCm39) |
M164V |
possibly damaging |
Het |
| Atp6v1a |
A |
T |
16: 43,935,006 (GRCm39) |
M61K |
probably benign |
Het |
| Avp |
A |
G |
2: 130,422,629 (GRCm39) |
S159P |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,713,679 (GRCm39) |
L841Q |
possibly damaging |
Het |
| Cdk5rap1 |
CTT |
CT |
2: 154,187,788 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
G |
9: 113,679,220 (GRCm39) |
L246R |
probably damaging |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,522,478 (GRCm39) |
A2920V |
probably benign |
Het |
| Epb41l1 |
C |
T |
2: 156,338,445 (GRCm39) |
R163W |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,657 (GRCm39) |
Y99N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,104 (GRCm39) |
Y2919H |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,643 (GRCm39) |
D234E |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,868,652 (GRCm39) |
D1443G |
probably benign |
Het |
| Fscn2 |
A |
C |
11: 120,257,494 (GRCm39) |
E285A |
probably benign |
Het |
| Hmga2 |
T |
A |
10: 120,298,583 (GRCm39) |
R79* |
probably null |
Het |
| Hrh3 |
A |
T |
2: 179,742,608 (GRCm39) |
V308E |
probably damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,248,787 (GRCm39) |
G93D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,312,712 (GRCm39) |
F4151S |
probably damaging |
Het |
| Ica1l |
C |
A |
1: 60,067,374 (GRCm39) |
E5D |
probably benign |
Het |
| Kcnma1 |
C |
A |
14: 23,436,419 (GRCm39) |
E640* |
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,722,950 (GRCm39) |
H2422Y |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,299,269 (GRCm39) |
T47A |
probably damaging |
Het |
| Mmp13 |
T |
G |
9: 7,278,952 (GRCm39) |
F348V |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,181 (GRCm39) |
D675G |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,860,410 (GRCm39) |
C1610R |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,686,804 (GRCm39) |
Q68L |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,280,178 (GRCm39) |
D231V |
probably benign |
Het |
| Or6c208 |
T |
C |
10: 129,223,939 (GRCm39) |
S146P |
probably damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,793 (GRCm39) |
M127K |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,174,997 (GRCm39) |
I751N |
probably damaging |
Het |
| Pramel19 |
C |
T |
4: 101,798,724 (GRCm39) |
L232F |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,435,593 (GRCm39) |
T3A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,070,953 (GRCm39) |
C34S |
probably damaging |
Het |
| Sema3f |
A |
G |
9: 107,559,788 (GRCm39) |
L702P |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,774,695 (GRCm39) |
L116Q |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,877 (GRCm39) |
V3378A |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,282,976 (GRCm39) |
I158V |
possibly damaging |
Het |
| Tbc1d10b |
G |
A |
7: 126,797,925 (GRCm39) |
R739W |
possibly damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Ube4b |
C |
T |
4: 149,415,821 (GRCm39) |
R1091Q |
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,983 (GRCm39) |
P481Q |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,139 (GRCm39) |
M33K |
probably benign |
Het |
|
| Other mutations in Dmkn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00908:Dmkn
|
APN |
7 |
30,477,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03084:Dmkn
|
APN |
7 |
30,470,481 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03376:Dmkn
|
APN |
7 |
30,470,667 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0077:Dmkn
|
UTSW |
7 |
30,464,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Dmkn
|
UTSW |
7 |
30,464,211 (GRCm39) |
unclassified |
probably benign |
|
|
R0892:Dmkn
|
UTSW |
7 |
30,466,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Dmkn
|
UTSW |
7 |
30,464,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Dmkn
|
UTSW |
7 |
30,463,990 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2915:Dmkn
|
UTSW |
7 |
30,464,741 (GRCm39) |
missense |
unknown |
|
|
R4705:Dmkn
|
UTSW |
7 |
30,463,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Dmkn
|
UTSW |
7 |
30,470,667 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4921:Dmkn
|
UTSW |
7 |
30,470,658 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5031:Dmkn
|
UTSW |
7 |
30,463,661 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5056:Dmkn
|
UTSW |
7 |
30,463,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5577:Dmkn
|
UTSW |
7 |
30,463,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Dmkn
|
UTSW |
7 |
30,479,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6504:Dmkn
|
UTSW |
7 |
30,475,854 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7383:Dmkn
|
UTSW |
7 |
30,464,793 (GRCm39) |
missense |
unknown |
|
|
R7526:Dmkn
|
UTSW |
7 |
30,477,076 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7667:Dmkn
|
UTSW |
7 |
30,477,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Dmkn
|
UTSW |
7 |
30,463,449 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9792:Dmkn
|
UTSW |
7 |
30,464,845 (GRCm39) |
missense |
unknown |
|
|
RF007:Dmkn
|
UTSW |
7 |
30,469,129 (GRCm39) |
splice site |
probably null |
|
|
RF022:Dmkn
|
UTSW |
7 |
30,466,600 (GRCm39) |
small insertion |
probably benign |
|
|
RF027:Dmkn
|
UTSW |
7 |
30,466,619 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Dmkn
|
UTSW |
7 |
30,466,607 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Dmkn
|
UTSW |
7 |
30,466,607 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Dmkn
|
UTSW |
7 |
30,466,619 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Dmkn
|
UTSW |
7 |
30,466,598 (GRCm39) |
small insertion |
probably benign |
|
|
RF054:Dmkn
|
UTSW |
7 |
30,466,613 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Dmkn
|
UTSW |
7 |
30,466,616 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Dmkn
|
UTSW |
7 |
30,466,632 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Dmkn
|
UTSW |
7 |
30,466,613 (GRCm39) |
small insertion |
probably benign |
|
|
RF062:Dmkn
|
UTSW |
7 |
30,466,600 (GRCm39) |
small insertion |
probably benign |
|
|
X0067:Dmkn
|
UTSW |
7 |
30,477,652 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Dmkn
|
UTSW |
7 |
30,475,922 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1186:Dmkn
|
UTSW |
7 |
30,466,596 (GRCm39) |
small insertion |
probably benign |
|
|
Z1186:Dmkn
|
UTSW |
7 |
30,464,826 (GRCm39) |
small deletion |
probably benign |
|
|
Z1186:Dmkn
|
UTSW |
7 |
30,464,818 (GRCm39) |
small deletion |
probably benign |
|
|
Z1186:Dmkn
|
UTSW |
7 |
30,466,602 (GRCm39) |
small insertion |
probably benign |
|
|
Z1186:Dmkn
|
UTSW |
7 |
30,466,599 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATATCTGTCTGGGCCATTGG -3'
(R):5'- GCTCTTGCCTTGGATGAGTCAG -3'
Sequencing Primer
(F):5'- GCCATTGGCTTCCTCCAGG -3'
(R):5'- CAGCTGAAAGATCTTGTCTTGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation