Incidental Mutation 'R5526:Dolk'
| ID |
431836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dolk
|
| Ensembl Gene |
ENSMUSG00000075419 |
| Gene Name |
dolichol kinase |
| Synonyms |
Tmem15 |
| MMRRC Submission |
043084-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5526 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30174243-30176346 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30175820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 75
(A75V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064447]
[ENSMUST00000091132]
[ENSMUST00000100219]
[ENSMUST00000113634]
[ENSMUST00000113643]
[ENSMUST00000113645]
[ENSMUST00000127689]
[ENSMUST00000154647]
[ENSMUST00000133877]
[ENSMUST00000138666]
[ENSMUST00000138254]
[ENSMUST00000150695]
[ENSMUST00000139454]
[ENSMUST00000148969]
|
| 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 damaging
Transcript: ENSMUST00000100219
AA Change: A75V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: A75V
| 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: ENSMUST00000156023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133603
|
| 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: 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: ENSMUST00000133877
|
| SMART Domains |
Protein: ENSMUSP00000117643
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
8 |
249 |
9.3e-70 |
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: 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: 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: 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: 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: ENSMUST00000148969
|
| SMART Domains |
Protein: ENSMUSP00000121742
Gene: ENSMUSG00000052533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup188
|
27 |
115 |
1.1e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,331,605 (GRCm39) |
M1315K |
probably benign |
Het |
| Abcc4 |
C |
T |
14: 118,868,449 (GRCm39) |
V168I |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Angpt1 |
A |
G |
15: 42,375,737 (GRCm39) |
L173P |
probably damaging |
Het |
| Crls1 |
T |
A |
2: 132,703,165 (GRCm39) |
M205K |
possibly damaging |
Het |
| Cspg4b |
T |
C |
13: 113,504,427 (GRCm39) |
V1852A |
probably benign |
Het |
| Dhtkd1 |
A |
T |
2: 5,916,662 (GRCm39) |
N671K |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,642,920 (GRCm39) |
D246V |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,779,287 (GRCm39) |
V623E |
probably damaging |
Het |
| Elavl3 |
T |
C |
9: 21,947,622 (GRCm39) |
T106A |
probably benign |
Het |
| Ergic1 |
T |
C |
17: 26,843,652 (GRCm39) |
C41R |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,160,187 (GRCm39) |
I3309F |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,207,559 (GRCm39) |
R978L |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,559 (GRCm39) |
S242C |
possibly damaging |
Het |
| Galntl6 |
T |
A |
8: 58,926,004 (GRCm39) |
H87L |
probably benign |
Het |
| Gatad2a |
T |
C |
8: 70,388,591 (GRCm39) |
E32G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm11541 |
G |
T |
11: 94,594,944 (GRCm39) |
H41Q |
unknown |
Het |
| Has3 |
A |
G |
8: 107,600,579 (GRCm39) |
T14A |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,869 (GRCm39) |
L1377P |
probably damaging |
Het |
| Lcorl |
T |
C |
5: 45,891,069 (GRCm39) |
N428S |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,445,284 (GRCm39) |
V95D |
unknown |
Het |
| Lrp1 |
A |
T |
10: 127,391,593 (GRCm39) |
V2942D |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,143 (GRCm39) |
S2082P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,890,723 (GRCm39) |
S852G |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,316,147 (GRCm39) |
L13* |
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,081,791 (GRCm39) |
N645I |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,778,003 (GRCm39) |
L302Q |
unknown |
Het |
| Or12e7 |
T |
C |
2: 87,288,109 (GRCm39) |
I200T |
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,235,383 (GRCm39) |
*309K |
probably null |
Het |
| Or7e166 |
C |
A |
9: 19,624,994 (GRCm39) |
Y290* |
probably null |
Het |
| Or8g52 |
A |
T |
9: 39,630,892 (GRCm39) |
Y123F |
possibly damaging |
Het |
| Pex12 |
A |
G |
11: 83,187,090 (GRCm39) |
V286A |
possibly damaging |
Het |
| Phax |
C |
T |
18: 56,717,382 (GRCm39) |
T275I |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,676,006 (GRCm39) |
V335A |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,083,273 (GRCm39) |
L173H |
probably damaging |
Het |
| Rab3ip |
T |
C |
10: 116,754,834 (GRCm39) |
T209A |
possibly damaging |
Het |
| Ralgapb |
T |
C |
2: 158,274,705 (GRCm39) |
V202A |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,165,187 (GRCm39) |
L611P |
probably damaging |
Het |
| Runx2 |
T |
G |
17: 45,035,749 (GRCm39) |
T148P |
probably damaging |
Het |
| Sbpl |
C |
A |
17: 24,173,623 (GRCm39) |
D50Y |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,350,237 (GRCm39) |
P879L |
probably damaging |
Het |
| Sfn |
T |
C |
4: 133,328,915 (GRCm39) |
R56G |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,972,125 (GRCm39) |
V486A |
possibly damaging |
Het |
| Tas2r138 |
C |
T |
6: 40,589,914 (GRCm39) |
A111T |
probably benign |
Het |
| Tasp1 |
A |
T |
2: 139,850,709 (GRCm39) |
S105T |
probably damaging |
Het |
| Tmem225 |
T |
G |
9: 40,062,002 (GRCm39) |
H205Q |
possibly damaging |
Het |
| Tmprss7 |
A |
G |
16: 45,481,267 (GRCm39) |
S640P |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,644,265 (GRCm39) |
A535T |
possibly damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,273 (GRCm39) |
D18V |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,522,069 (GRCm39) |
L9P |
probably benign |
Het |
| Zcchc2 |
T |
A |
1: 105,957,984 (GRCm39) |
C420* |
probably null |
Het |
| Zfp804a |
A |
G |
2: 82,088,934 (GRCm39) |
D921G |
probably benign |
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 |
|
IGL02138:Dolk
|
APN |
2 |
30,175,991 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTAATGCCCAGTGCCAAC -3'
(R):5'- TAGAGACATGACCCGACAGTG -3'
Sequencing Primer
(F):5'- GTGCCAACACGGAGGAG -3'
(R):5'- ATGACCCGACAGTGCCCTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation