Incidental Mutation 'IGL02138:Dolk'
| ID |
281422 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dolk
|
| Ensembl Gene |
ENSMUSG00000075419 |
| Gene Name |
dolichol kinase |
| Synonyms |
Tmem15 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02138
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30174243-30176346 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30175991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 18
(V18A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064447]
[ENSMUST00000091132]
[ENSMUST00000100219]
[ENSMUST00000113634]
[ENSMUST00000113643]
[ENSMUST00000113645]
[ENSMUST00000127689]
[ENSMUST00000139454]
[ENSMUST00000138666]
[ENSMUST00000148969]
[ENSMUST00000154647]
[ENSMUST00000150695]
[ENSMUST00000138254]
[ENSMUST00000133877]
|
| AlphaFold |
Q8R2Y3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064447
|
| SMART Domains |
Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup188
|
31 |
941 |
9.3e-213 |
PFAM |
|
low complexity region
|
1020 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1307 |
1320 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1696 |
1709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091132
|
| SMART Domains |
Protein: ENSMUSP00000088663
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
32 |
279 |
2.7e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100219
AA Change: V18A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: V18A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
108 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
134 |
153 |
N/A |
INTRINSIC |
|
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
transmembrane domain
|
252 |
274 |
N/A |
INTRINSIC |
|
transmembrane domain
|
294 |
313 |
N/A |
INTRINSIC |
|
transmembrane domain
|
333 |
350 |
N/A |
INTRINSIC |
|
transmembrane domain
|
355 |
377 |
N/A |
INTRINSIC |
|
transmembrane domain
|
398 |
418 |
N/A |
INTRINSIC |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
transmembrane domain
|
476 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113634
|
| SMART Domains |
Protein: ENSMUSP00000109264
Gene: ENSMUSG00000052533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup188
|
27 |
128 |
1.2e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113643
|
| SMART Domains |
Protein: ENSMUSP00000109273
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
238 |
9e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113645
|
| SMART Domains |
Protein: ENSMUSP00000109275
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
259 |
1.4e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127689
|
| SMART Domains |
Protein: ENSMUSP00000119543
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
150 |
7.5e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156023
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143119
|
| SMART Domains |
Protein: ENSMUSP00000125607
Gene: ENSMUSG00000098794
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3OBZ|A
|
1 |
31 |
4e-9 |
PDB |
|
Pfam:Nup188
|
47 |
126 |
2.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139454
|
| SMART Domains |
Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3733
|
1 |
65 |
3.3e-32 |
PFAM |
|
Pfam:DUF3733
|
97 |
156 |
2e-22 |
PFAM |
|
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
461 |
526 |
7.6e-5 |
PROSPERO |
|
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
|
LRR
|
590 |
613 |
5.41e0 |
SMART |
|
LRR
|
614 |
636 |
3.18e2 |
SMART |
|
LRR
|
638 |
660 |
6.78e1 |
SMART |
|
LRR_TYP
|
661 |
684 |
1.06e-4 |
SMART |
|
LRR
|
685 |
706 |
1.15e1 |
SMART |
|
LRR_TYP
|
707 |
730 |
1.92e-2 |
SMART |
|
LRR
|
731 |
751 |
1.81e2 |
SMART |
|
LRR
|
753 |
776 |
2.02e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138666
|
| SMART Domains |
Protein: ENSMUSP00000122398
Gene: ENSMUSG00000052533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup188
|
27 |
118 |
1.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148969
|
| SMART Domains |
Protein: ENSMUSP00000121742
Gene: ENSMUSG00000052533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup188
|
27 |
115 |
1.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147204
|
| SMART Domains |
Protein: ENSMUSP00000122095
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3OBZ|A
|
2 |
42 |
4e-18 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154647
|
| SMART Domains |
Protein: ENSMUSP00000121371
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
259 |
1.4e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150695
|
| SMART Domains |
Protein: ENSMUSP00000121995
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
107 |
1.1e-16 |
PFAM |
|
Pfam:PhyH
|
104 |
212 |
7.2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138254
|
| SMART Domains |
Protein: ENSMUSP00000116062
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
157 |
2.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133877
|
| SMART Domains |
Protein: ENSMUSP00000117643
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
8 |
249 |
9.3e-70 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozyogus for a targeted null mutation exhibit lethality. Heterozygous mice show decreased depressive-like responses, hyperalgesia, and altered sensitivity to novelty-induced stress/anxiety. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
G |
14: 32,384,672 (GRCm39) |
D431A |
possibly damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,401,631 (GRCm39) |
M209T |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,937,486 (GRCm39) |
H86R |
probably damaging |
Het |
| Camk1d |
G |
T |
2: 5,449,895 (GRCm39) |
Y87* |
probably null |
Het |
| Capza3 |
A |
G |
6: 139,987,872 (GRCm39) |
D157G |
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,947 (GRCm39) |
D124E |
probably benign |
Het |
| Col14a1 |
C |
A |
15: 55,284,231 (GRCm39) |
Q831K |
unknown |
Het |
| Copb2 |
C |
T |
9: 98,469,605 (GRCm39) |
P829S |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,208,419 (GRCm39) |
V929A |
probably benign |
Het |
| Ecm2 |
G |
T |
13: 49,676,304 (GRCm39) |
L340F |
probably damaging |
Het |
| Hacl1 |
A |
G |
14: 31,352,940 (GRCm39) |
L149P |
probably benign |
Het |
| Higd2a |
A |
T |
13: 54,738,235 (GRCm39) |
|
probably null |
Het |
| Hspa12a |
A |
T |
19: 58,816,730 (GRCm39) |
S28R |
probably benign |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,435 (GRCm39) |
Y70H |
probably damaging |
Het |
| Iho1 |
G |
A |
9: 108,283,820 (GRCm39) |
T208I |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,141,284 (GRCm39) |
S696P |
probably damaging |
Het |
| Kng1 |
A |
T |
16: 22,886,558 (GRCm39) |
N168Y |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,625,264 (GRCm39) |
D473G |
probably damaging |
Het |
| Lipt1 |
G |
A |
1: 37,914,867 (GRCm39) |
E308K |
possibly damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,194,792 (GRCm39) |
F76Y |
probably benign |
Het |
| Mapk1 |
A |
G |
16: 16,841,316 (GRCm39) |
I163V |
probably benign |
Het |
| Matn3 |
A |
G |
12: 9,017,638 (GRCm39) |
E430G |
possibly damaging |
Het |
| Med13 |
A |
T |
11: 86,177,591 (GRCm39) |
S1502T |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,307,046 (GRCm39) |
H237L |
probably benign |
Het |
| Mss51 |
A |
C |
14: 20,534,923 (GRCm39) |
Y282* |
probably null |
Het |
| Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
| Or1p1c |
A |
T |
11: 74,160,544 (GRCm39) |
M110L |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,196 (GRCm39) |
S188T |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
| Ppme1 |
C |
T |
7: 99,983,139 (GRCm39) |
M335I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sntg2 |
T |
A |
12: 30,357,230 (GRCm39) |
|
probably null |
Het |
| Spryd3 |
T |
C |
15: 102,027,354 (GRCm39) |
|
probably benign |
Het |
| Srpx |
A |
G |
X: 9,933,662 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
G |
T |
6: 142,909,504 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,865,470 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,000,047 (GRCm39) |
S976R |
probably benign |
Het |
| Sycp2 |
T |
A |
2: 178,043,783 (GRCm39) |
K108* |
probably null |
Het |
| Tagap1 |
T |
C |
17: 7,223,485 (GRCm39) |
T404A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,589,082 (GRCm39) |
T21I |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,759,202 (GRCm39) |
Y665F |
probably damaging |
Het |
| Tmc8 |
T |
G |
11: 117,682,081 (GRCm39) |
S525A |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,810 (GRCm39) |
D364E |
probably benign |
Het |
| Trim44 |
T |
C |
2: 102,211,253 (GRCm39) |
I236V |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,226 (GRCm39) |
|
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,347,300 (GRCm39) |
R3180S |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,735,724 (GRCm39) |
C1077R |
probably damaging |
Het |
|
| Other mutations in Dolk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Dolk
|
APN |
2 |
30,174,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Dolk
|
APN |
2 |
30,175,749 (GRCm39) |
missense |
probably benign |
|
|
IGL01893:Dolk
|
APN |
2 |
30,175,926 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02392:Dolk
|
APN |
2 |
30,175,740 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03247:Dolk
|
APN |
2 |
30,175,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Dolk
|
UTSW |
2 |
30,175,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0243:Dolk
|
UTSW |
2 |
30,176,031 (GRCm39) |
missense |
probably benign |
|
|
R1330:Dolk
|
UTSW |
2 |
30,175,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Dolk
|
UTSW |
2 |
30,175,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2314:Dolk
|
UTSW |
2 |
30,175,497 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4299:Dolk
|
UTSW |
2 |
30,175,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Dolk
|
UTSW |
2 |
30,175,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7520:Dolk
|
UTSW |
2 |
30,174,555 (GRCm39) |
missense |
probably benign |
|
|
R7890:Dolk
|
UTSW |
2 |
30,174,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Dolk
|
UTSW |
2 |
30,175,961 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8849:Dolk
|
UTSW |
2 |
30,174,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Dolk
|
UTSW |
2 |
30,174,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9197:Dolk
|
UTSW |
2 |
30,174,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Dolk
|
UTSW |
2 |
30,176,016 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation