Incidental Mutation 'R9545:Dolk'
| ID |
720035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dolk
|
| Ensembl Gene |
ENSMUSG00000075419 |
| Gene Name |
dolichol kinase |
| Synonyms |
Tmem15 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30174243-30176346 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30176016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 10
(S10P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064447]
[ENSMUST00000091132]
[ENSMUST00000100219]
[ENSMUST00000113634]
[ENSMUST00000113643]
[ENSMUST00000113645]
[ENSMUST00000127689]
[ENSMUST00000133877]
[ENSMUST00000138254]
[ENSMUST00000138666]
[ENSMUST00000139454]
[ENSMUST00000148969]
[ENSMUST00000150695]
[ENSMUST00000154647]
|
| 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: S10P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: S10P
| 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 |
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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000154647
|
| SMART Domains |
Protein: ENSMUSP00000121371
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
259 |
1.4e-73 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,416,538 (GRCm39) |
L4100Q |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,403,716 (GRCm39) |
P652T |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,582,338 (GRCm39) |
I228N |
possibly damaging |
Het |
| Ap5m1 |
C |
G |
14: 49,311,271 (GRCm39) |
Q114E |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,033,890 (GRCm39) |
T201I |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,696,233 (GRCm39) |
V14I |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,078,464 (GRCm39) |
N258S |
probably benign |
Het |
| Atxn1l |
C |
T |
8: 110,458,688 (GRCm39) |
V525M |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,644,804 (GRCm39) |
V208A |
probably benign |
Het |
| Bet1 |
A |
T |
6: 4,077,973 (GRCm39) |
S89T |
probably damaging |
Het |
| Cdhr1 |
T |
G |
14: 36,817,016 (GRCm39) |
N115T |
possibly damaging |
Het |
| Cstf1 |
C |
T |
2: 172,212,885 (GRCm39) |
|
probably benign |
Het |
| Dcdc2c |
G |
T |
12: 28,602,295 (GRCm39) |
T3K |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,519,120 (GRCm39) |
E129K |
possibly damaging |
Het |
| Dgkg |
T |
C |
16: 22,385,168 (GRCm39) |
E446G |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,800,977 (GRCm39) |
T406A |
probably benign |
Het |
| Gm8439 |
C |
T |
4: 120,445,957 (GRCm39) |
|
probably benign |
Het |
| Gna12 |
A |
G |
5: 140,746,575 (GRCm39) |
I290T |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,458,112 (GRCm39) |
|
probably null |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
| Kcnc3 |
T |
C |
7: 44,245,357 (GRCm39) |
L549P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,164 (GRCm39) |
D582G |
probably damaging |
Het |
| Lhfpl5 |
C |
A |
17: 28,799,079 (GRCm39) |
A196D |
probably damaging |
Het |
| Lipm |
T |
C |
19: 34,090,392 (GRCm39) |
M191T |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,483,329 (GRCm39) |
Y459H |
probably damaging |
Het |
| Lzts1 |
C |
A |
8: 69,591,286 (GRCm39) |
K287N |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mmp23 |
T |
A |
4: 155,735,980 (GRCm39) |
Q224L |
probably benign |
Het |
| Ms4a13 |
C |
G |
19: 11,147,332 (GRCm39) |
S194T |
unknown |
Het |
| Ms4a2 |
A |
G |
19: 11,596,237 (GRCm39) |
F164S |
probably benign |
Het |
| Nudt15 |
A |
T |
14: 73,760,918 (GRCm39) |
C58S |
probably damaging |
Het |
| Or2w25 |
A |
G |
11: 59,504,275 (GRCm39) |
T162A |
probably benign |
Het |
| Or8h6 |
T |
C |
2: 86,703,615 (GRCm39) |
I151V |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,217 (GRCm39) |
H20R |
possibly damaging |
Het |
| Panx3 |
A |
G |
9: 37,575,437 (GRCm39) |
F142L |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,422,365 (GRCm39) |
Y255H |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,106,840 (GRCm39) |
V637A |
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,337,504 (GRCm39) |
L602P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,214 (GRCm39) |
N370D |
probably benign |
Het |
| Ppp2r5d |
A |
T |
17: 46,995,687 (GRCm39) |
I454N |
probably damaging |
Het |
| Pramel17 |
C |
A |
4: 101,693,097 (GRCm39) |
C301F |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,492,392 (GRCm39) |
V412A |
probably benign |
Het |
| Reep3 |
TTGACAGATTTCATG |
TTG |
10: 66,850,703 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skic3 |
T |
A |
13: 76,259,832 (GRCm39) |
V44D |
probably damaging |
Het |
| Spink5 |
G |
A |
18: 44,136,262 (GRCm39) |
V558I |
possibly damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,028,625 (GRCm39) |
|
probably null |
Het |
| Svs5 |
T |
A |
2: 164,079,313 (GRCm39) |
Q198L |
possibly damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,834 (GRCm39) |
N95K |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,336,112 (GRCm39) |
V718A |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,878,458 (GRCm39) |
E632K |
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,843,638 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,618,511 (GRCm39) |
I1163T |
probably benign |
Het |
| Vav2 |
C |
T |
2: 27,173,351 (GRCm39) |
R491Q |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,399,050 (GRCm39) |
F40I |
probably damaging |
Het |
| Wdfy3 |
A |
C |
5: 102,100,957 (GRCm39) |
I220R |
|
Het |
| Xrra1 |
T |
A |
7: 99,535,334 (GRCm39) |
V213D |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,051,415 (GRCm39) |
V550E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGACTAGCCCAAGCAAAG -3'
(R):5'- TGGAACACCCTTTTGGAAGC -3'
Sequencing Primer
(F):5'- CTGGAAAACGGCATTGCC -3'
(R):5'- ACACCCTTTTGGAAGCTGGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation