Incidental Mutation 'R2314:Dolk'
| ID |
245395 |
| 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 # |
R2314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30174243-30176346 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30175497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 183
(L183M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064447]
[ENSMUST00000091132]
[ENSMUST00000100219]
[ENSMUST00000113634]
[ENSMUST00000113643]
[ENSMUST00000113645]
[ENSMUST00000127689]
[ENSMUST00000150695]
[ENSMUST00000133877]
[ENSMUST00000139454]
[ENSMUST00000138254]
[ENSMUST00000148969]
[ENSMUST00000138666]
[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 damaging
Transcript: ENSMUST00000100219
AA Change: L183M
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: L183M
| 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: ENSMUST00000156023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129512
|
| 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: 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: 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: 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,322 (GRCm39) |
S39P |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Anxa6 |
T |
A |
11: 54,902,561 (GRCm39) |
I58F |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,181,763 (GRCm39) |
K582* |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,227,976 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,427,676 (GRCm39) |
D473V |
probably benign |
Het |
| Cry1 |
A |
T |
10: 84,969,175 (GRCm39) |
C550S |
probably benign |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
| Drd4 |
T |
C |
7: 140,873,854 (GRCm39) |
Y140H |
probably damaging |
Het |
| Duox1 |
C |
A |
2: 122,164,211 (GRCm39) |
C890* |
probably null |
Het |
| Epha2 |
T |
A |
4: 141,046,325 (GRCm39) |
V508E |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Fgfr1 |
C |
T |
8: 26,060,909 (GRCm39) |
S527F |
probably damaging |
Het |
| Flywch1 |
A |
G |
17: 23,982,000 (GRCm39) |
V68A |
probably benign |
Het |
| Gm21834 |
A |
T |
17: 58,049,210 (GRCm39) |
V2E |
possibly damaging |
Het |
| Gm7853 |
A |
T |
14: 35,811,621 (GRCm39) |
|
noncoding transcript |
Het |
| Igf2r |
T |
A |
17: 12,934,830 (GRCm39) |
H713L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,023,338 (GRCm39) |
V543A |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,549,595 (GRCm39) |
|
probably null |
Het |
| Lsm1 |
C |
T |
8: 26,275,712 (GRCm39) |
P5S |
possibly damaging |
Het |
| Marchf1 |
T |
C |
8: 66,574,442 (GRCm39) |
M1T |
probably null |
Het |
| Myocd |
T |
C |
11: 65,091,633 (GRCm39) |
H103R |
probably damaging |
Het |
| Myom2 |
C |
T |
8: 15,113,927 (GRCm39) |
T25I |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,380,003 (GRCm39) |
K83E |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,839,829 (GRCm39) |
D806G |
probably benign |
Het |
| Onecut2 |
G |
T |
18: 64,474,268 (GRCm39) |
R254L |
probably damaging |
Het |
| Or51k1 |
T |
A |
7: 103,661,436 (GRCm39) |
M158L |
probably benign |
Het |
| Plxna1 |
A |
C |
6: 89,301,298 (GRCm39) |
L1534R |
probably damaging |
Het |
| Polb |
C |
A |
8: 23,130,018 (GRCm39) |
A185S |
possibly damaging |
Het |
| Pou3f3 |
T |
C |
1: 42,737,651 (GRCm39) |
V449A |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,640,145 (GRCm39) |
T275I |
probably damaging |
Het |
| Rab18 |
C |
A |
18: 6,788,516 (GRCm39) |
A161D |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,384,011 (GRCm39) |
R164G |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,445,208 (GRCm39) |
I2418K |
probably benign |
Het |
| Scrn1 |
T |
C |
6: 54,502,631 (GRCm39) |
E136G |
probably benign |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,989,387 (GRCm39) |
A107T |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,723,783 (GRCm39) |
S466G |
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,965,795 (GRCm39) |
F451Y |
probably damaging |
Het |
| Tnks1bp1 |
G |
A |
2: 84,889,259 (GRCm39) |
V529M |
probably benign |
Het |
| Trps1 |
T |
C |
15: 50,524,742 (GRCm39) |
K874E |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,825,047 (GRCm39) |
D75E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,596,368 (GRCm39) |
Y20182H |
probably damaging |
Het |
| Ufc1 |
A |
T |
1: 171,116,821 (GRCm39) |
C116S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,149,976 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zfp81 |
A |
G |
17: 33,553,597 (GRCm39) |
Y406H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGCCTGAATCCATGAAGAC -3'
(R):5'- TGGTTGCAGCTACTGGCATG -3'
Sequencing Primer
(F):5'- TGCCTGAATCCATGAAGACAAAGAG -3'
(R):5'- AGCTACTGGCATGGCAGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation