Incidental Mutation 'R8849:Dolk'
| ID |
674865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dolk
|
| Ensembl Gene |
ENSMUSG00000075419 |
| Gene Name |
dolichol kinase |
| Synonyms |
Tmem15 |
| MMRRC Submission |
068672-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8849 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30174243-30176346 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30174935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 370
(E370G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064447]
[ENSMUST00000091132]
[ENSMUST00000100219]
[ENSMUST00000113634]
[ENSMUST00000113643]
[ENSMUST00000113645]
[ENSMUST00000127689]
[ENSMUST00000133877]
[ENSMUST00000138254]
[ENSMUST00000138666]
[ENSMUST00000139454]
[ENSMUST00000139719]
[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 damaging
Transcript: ENSMUST00000100219
AA Change: E370G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: E370G
| 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: ENSMUST00000139719
|
| SMART Domains |
Protein: ENSMUSP00000116450
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
217 |
4.5e-57 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9420 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (52/52) |
| 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 |
|---|
| A630010A05Rik |
G |
A |
16: 14,439,376 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,669,324 (GRCm39) |
T2411A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,121,464 (GRCm39) |
T30S |
probably benign |
Het |
| Alg1 |
G |
A |
16: 5,051,532 (GRCm39) |
A7T |
possibly damaging |
Het |
| Ano10 |
T |
A |
9: 122,090,510 (GRCm39) |
M268L |
probably benign |
Het |
| Avil |
T |
C |
10: 126,844,661 (GRCm39) |
V264A |
possibly damaging |
Het |
| Bicc1 |
T |
A |
10: 70,782,694 (GRCm39) |
I558F |
probably benign |
Het |
| Bst1 |
A |
T |
5: 43,977,927 (GRCm39) |
H92L |
possibly damaging |
Het |
| C1s2 |
T |
C |
6: 124,602,754 (GRCm39) |
N486D |
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,734,627 (GRCm39) |
H452L |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,288,537 (GRCm39) |
D233E |
probably benign |
Het |
| Ceacam18 |
G |
T |
7: 43,294,967 (GRCm39) |
L342F |
probably benign |
Het |
| Cep95 |
T |
A |
11: 106,707,630 (GRCm39) |
M691K |
|
Het |
| Cfap221 |
G |
A |
1: 119,922,874 (GRCm39) |
P23S |
probably damaging |
Het |
| Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
| Col20a1 |
T |
C |
2: 180,640,432 (GRCm39) |
Y572H |
probably damaging |
Het |
| Cr2 |
C |
T |
1: 194,839,547 (GRCm39) |
V627M |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,423,551 (GRCm39) |
H320Q |
probably benign |
Het |
| Ddx5 |
A |
T |
11: 106,675,975 (GRCm39) |
V266E |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,846,365 (GRCm39) |
V336A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,156 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
C |
A |
7: 105,370,723 (GRCm39) |
Q4668K |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,904,986 (GRCm39) |
E630K |
|
Het |
| Ercc6 |
T |
A |
14: 32,291,565 (GRCm39) |
L1003Q |
probably damaging |
Het |
| Foxc1 |
T |
C |
13: 31,992,817 (GRCm39) |
S543P |
unknown |
Het |
| Gbp2b |
A |
C |
3: 142,313,913 (GRCm39) |
M398L |
probably benign |
Het |
| Gigyf2 |
G |
T |
1: 87,361,592 (GRCm39) |
R908L |
unknown |
Het |
| Gpr176 |
T |
A |
2: 118,110,095 (GRCm39) |
E388V |
probably damaging |
Het |
| Gpx8 |
C |
T |
13: 113,179,704 (GRCm39) |
G199E |
probably benign |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
| Ifi208 |
G |
A |
1: 173,506,184 (GRCm39) |
|
probably benign |
Het |
| Itgad |
T |
A |
7: 127,789,157 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,915,716 (GRCm39) |
Q498* |
probably null |
Het |
| Lmo7 |
T |
C |
14: 102,163,543 (GRCm39) |
Y1463H |
unknown |
Het |
| Mms19 |
A |
T |
19: 41,952,767 (GRCm39) |
L114Q |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,094,986 (GRCm39) |
V601A |
possibly damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,407,447 (GRCm39) |
M87L |
probably benign |
Het |
| Nhlrc2 |
T |
C |
19: 56,580,184 (GRCm39) |
V439A |
possibly damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,179,038 (GRCm39) |
H124L |
probably damaging |
Het |
| Opn4 |
A |
G |
14: 34,318,986 (GRCm39) |
W200R |
probably damaging |
Het |
| Or2b2b |
T |
C |
13: 21,858,226 (GRCm39) |
E296G |
possibly damaging |
Het |
| Pax2 |
T |
C |
19: 44,749,111 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,118,440 (GRCm39) |
Q381H |
probably damaging |
Het |
| Pramel25 |
A |
G |
4: 143,521,596 (GRCm39) |
N404S |
probably damaging |
Het |
| Pramel32 |
T |
A |
4: 88,546,014 (GRCm39) |
T443S |
probably benign |
Het |
| Pramel34 |
A |
T |
5: 93,784,197 (GRCm39) |
H422Q |
probably benign |
Het |
| Rb1 |
C |
T |
14: 73,434,709 (GRCm39) |
R903Q |
probably damaging |
Het |
| Scamp4 |
T |
A |
10: 80,445,266 (GRCm39) |
V37E |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,302,673 (GRCm39) |
W733R |
probably damaging |
Het |
| Sertm1 |
A |
G |
3: 54,806,749 (GRCm39) |
V92A |
possibly damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,250,180 (GRCm39) |
F638L |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,159,171 (GRCm39) |
S703P |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,272,656 (GRCm39) |
M570K |
probably benign |
Het |
| Zfp433 |
T |
C |
10: 81,556,875 (GRCm39) |
I459T |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,334,943 (GRCm39) |
E236G |
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 |
|
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 |
|
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'- ATGGAGGCCACAGTATCACC -3'
(R):5'- GAATGCTAAGCGGTCGTCTTC -3'
Sequencing Primer
(F):5'- GGGCTCTTGCTCCTTCCAGG -3'
(R):5'- GTCGTCTTCTGAGTCCAAGAAGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation