Incidental Mutation 'IGL03247:Dolk'
ID414448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dolk
Ensembl Gene ENSMUSG00000075419
Gene Namedolichol kinase
SynonymsTmem15
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03247
Quality Score
Status
Chromosome2
Chromosomal Location30284231-30286334 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30285511 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 174 (Y174C)
Ref Sequence ENSEMBL: ENSMUSP00000097792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064447] [ENSMUST00000091132] [ENSMUST00000100219] [ENSMUST00000113634] [ENSMUST00000113643] [ENSMUST00000113645] [ENSMUST00000127689] [ENSMUST00000133877] [ENSMUST00000138254] [ENSMUST00000138666] [ENSMUST00000139454] [ENSMUST00000154647] [ENSMUST00000148969] [ENSMUST00000150695]
Predicted Effect probably benign
Transcript: ENSMUST00000064447
SMART Domains Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:PhyH 32 279 2.7e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100219
AA Change: Y174C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: Y174C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Nup188 27 128 1.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113643
SMART Domains Protein: ENSMUSP00000109273
Gene: ENSMUSG00000079484

DomainStartEndE-ValueType
Pfam:PhyH 12 238 9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113645
SMART Domains Protein: ENSMUSP00000109275
Gene: ENSMUSG00000079484

DomainStartEndE-ValueType
Pfam:PhyH 12 259 1.4e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127689
SMART Domains Protein: ENSMUSP00000119543
Gene: ENSMUSG00000079484

DomainStartEndE-ValueType
Pfam:PhyH 12 150 7.5e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133603
Predicted Effect probably benign
Transcript: ENSMUST00000133877
SMART Domains Protein: ENSMUSP00000117643
Gene: ENSMUSG00000079484

DomainStartEndE-ValueType
Pfam:PhyH 8 249 9.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138254
SMART Domains Protein: ENSMUSP00000116062
Gene: ENSMUSG00000079484

DomainStartEndE-ValueType
Pfam:PhyH 12 157 2.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138666
SMART Domains Protein: ENSMUSP00000122398
Gene: ENSMUSG00000052533

DomainStartEndE-ValueType
Pfam:Nup188 27 118 1.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139454
SMART Domains Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000156023
Predicted Effect probably benign
Transcript: ENSMUST00000143119
SMART Domains Protein: ENSMUSP00000125607
Gene: ENSMUSG00000098794

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:PhyH 12 259 1.4e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148969
SMART Domains Protein: ENSMUSP00000121742
Gene: ENSMUSG00000052533

DomainStartEndE-ValueType
Pfam:Nup188 27 115 1.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147204
SMART Domains Protein: ENSMUSP00000122095
Gene: ENSMUSG00000079484

DomainStartEndE-ValueType
PDB:3OBZ|A 2 42 4e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000150695
SMART Domains Protein: ENSMUSP00000121995
Gene: ENSMUSG00000079484

DomainStartEndE-ValueType
Pfam:PhyH 12 107 1.1e-16 PFAM
Pfam:PhyH 104 212 7.2e-40 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 55,770,096 I926F probably damaging Het
Agap3 A G 5: 24,487,822 N418D probably damaging Het
Alms1 T C 6: 85,678,597 V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 M1L possibly damaging Het
Aox4 A G 1: 58,264,367 D1188G probably damaging Het
Car2 T A 3: 14,887,939 L47Q probably damaging Het
Catsper2 A G 2: 121,410,200 V107A probably benign Het
Catsperg2 T C 7: 29,717,048 N313S possibly damaging Het
Erfe A G 1: 91,370,425 E219G probably benign Het
Ern2 T C 7: 122,171,671 E733G probably benign Het
Fam159a A T 4: 108,367,901 C155S probably benign Het
Fam228a A G 12: 4,737,734 F13S probably damaging Het
Fancd2 T C 6: 113,568,208 V829A probably benign Het
Gid4 C A 11: 60,432,343 T87N probably benign Het
H2-Ob A G 17: 34,243,492 K152R probably benign Het
Ifna2 T A 4: 88,683,377 T135S probably benign Het
Il1rapl2 G A X: 138,789,680 G298D probably damaging Het
Mbd1 T A 18: 74,274,754 L174* probably null Het
Mga T A 2: 119,935,513 D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 M54K probably benign Het
Mphosph8 T A 14: 56,678,820 probably null Het
Mrps23 A G 11: 88,210,096 probably benign Het
Necab1 C T 4: 14,960,046 M300I probably benign Het
Nid2 G A 14: 19,779,620 D660N probably damaging Het
Olfr693 T A 7: 106,677,547 H313L probably benign Het
Olfr824 T A 10: 130,126,715 E114V probably damaging Het
P2ry13 A T 3: 59,209,592 V255D possibly damaging Het
Peak1 C T 9: 56,257,930 E905K probably damaging Het
Picalm C A 7: 90,194,291 Q550K probably benign Het
Rnf103 T A 6: 71,510,305 V640E possibly damaging Het
Sec31b T G 19: 44,518,940 K817N possibly damaging Het
Skint2 C A 4: 112,626,026 H209Q probably benign Het
Skint5 T C 4: 113,940,808 S193G probably damaging Het
Tacr3 A G 3: 134,930,091 probably benign Het
Tek A G 4: 94,865,443 M1041V possibly damaging Het
Tm4sf1 A G 3: 57,293,015 S89P possibly damaging Het
Tusc3 T A 8: 39,130,777 N299K possibly damaging Het
Washc4 T C 10: 83,564,463 S418P probably benign Het
Other mutations in Dolk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Dolk APN 2 30284731 missense probably damaging 1.00
IGL01529:Dolk APN 2 30285737 missense probably benign
IGL01893:Dolk APN 2 30285914 missense probably benign 0.03
IGL02138:Dolk APN 2 30285979 missense probably benign 0.08
IGL02392:Dolk APN 2 30285728 missense probably benign 0.34
PIT4131001:Dolk UTSW 2 30285574 missense probably benign 0.01
R0243:Dolk UTSW 2 30286019 missense probably benign
R1330:Dolk UTSW 2 30285100 missense probably damaging 1.00
R1564:Dolk UTSW 2 30285621 missense probably damaging 0.99
R2314:Dolk UTSW 2 30285485 missense probably damaging 0.96
R4299:Dolk UTSW 2 30285188 missense probably damaging 1.00
R5526:Dolk UTSW 2 30285808 missense probably damaging 1.00
R7520:Dolk UTSW 2 30284543 missense probably benign
R7890:Dolk UTSW 2 30284714 missense probably damaging 1.00
R7896:Dolk UTSW 2 30285949 missense possibly damaging 0.58
R8849:Dolk UTSW 2 30284923 missense probably damaging 1.00
Posted On2016-08-02