Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00979:Dolk'

27026

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dolk

Ensembl Gene

ENSMUSG00000075419

Gene Name

dolichol kinase

Synonyms

Tmem15

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00979

Quality Score

Status

Chromosome

Chromosomal Location

30174243-30176346 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30174743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 434 (L434Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064447] [ENSMUST00000091132] [ENSMUST00000100219] [ENSMUST00000113634] [ENSMUST00000113643] [ENSMUST00000113645] [ENSMUST00000127689] [ENSMUST00000138666] [ENSMUST00000138254] [ENSMUST00000139454] [ENSMUST00000148969] [ENSMUST00000139719] [ENSMUST00000133877] [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: L434Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: L434Q

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: ENSMUST00000133603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129512

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: 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: 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

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: 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: 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

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,338 (GRCm39)	K84M	probably damaging	Het
A4gnt	T	A	9: 99,502,489 (GRCm39)	Y216*	probably null	Het
Abcb1b	A	G	5: 8,875,293 (GRCm39)		probably benign	Het
Ankrd50	G	A	3: 38,506,563 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,381,584 (GRCm39)	T89A	probably benign	Het
Ccdc15	C	T	9: 37,227,786 (GRCm39)	S236N	probably benign	Het
Cd34	A	C	1: 194,631,816 (GRCm39)	T151P	possibly damaging	Het
Col28a1	A	T	6: 8,014,810 (GRCm39)	V865E	probably damaging	Het
Csf2rb	T	A	15: 78,232,304 (GRCm39)	V537E	probably damaging	Het
Cux2	A	G	5: 122,011,777 (GRCm39)	F553L	probably damaging	Het
Dsg2	C	A	18: 20,715,824 (GRCm39)	D255E	probably damaging	Het
Endov	T	C	11: 119,391,444 (GRCm39)	V144A	probably damaging	Het
Grik2	T	C	10: 49,232,034 (GRCm39)	N499D	probably damaging	Het
Hephl1	G	T	9: 14,978,341 (GRCm39)	T855K	probably benign	Het
Hif1a	A	G	12: 73,988,784 (GRCm39)	D557G	probably damaging	Het
Idh1	G	A	1: 65,210,308 (GRCm39)	T75I	probably damaging	Het
Ighv1-37	A	G	12: 114,860,070 (GRCm39)	S47P	probably benign	Het
Irx4	A	G	13: 73,416,341 (GRCm39)		probably benign	Het
Itpr1	C	T	6: 108,448,081 (GRCm39)	A1871V	probably damaging	Het
Klkb1	A	G	8: 45,747,105 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,080 (GRCm39)	L435P	probably damaging	Het
Megf11	T	A	9: 64,416,009 (GRCm39)	Y73N	probably damaging	Het
Nfe2	T	C	15: 103,157,607 (GRCm39)	D128G	probably damaging	Het
Or13a22	A	G	7: 140,072,614 (GRCm39)	E21G	probably benign	Het
Or4k51	T	A	2: 111,584,771 (GRCm39)	M59K	probably damaging	Het
Pak6	C	A	2: 118,526,963 (GRCm39)	L653I	probably damaging	Het
Pde4dip	T	A	3: 97,655,074 (GRCm39)		probably benign	Het
Pds5a	A	G	5: 65,789,066 (GRCm39)	V831A	probably benign	Het
Prc1	G	T	7: 79,957,444 (GRCm39)		probably null	Het
Ptprs	C	T	17: 56,765,243 (GRCm39)	G14S	probably damaging	Het
Pygb	A	G	2: 150,661,833 (GRCm39)	K520E	probably benign	Het
Rimbp2	A	G	5: 128,883,505 (GRCm39)	S92P	probably benign	Het
Samd4b	A	T	7: 28,113,638 (GRCm39)	L109Q	probably damaging	Het
Saxo4	T	C	19: 10,451,863 (GRCm39)	*428W	probably null	Het
Scn8a	A	T	15: 100,853,287 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,545,991 (GRCm39)	I23V	unknown	Het
Sec61a2	A	G	2: 5,876,831 (GRCm39)	Y350H	possibly damaging	Het
Slc4a3	A	T	1: 75,530,891 (GRCm39)	Q759L	probably damaging	Het
Speg	C	T	1: 75,387,378 (GRCm39)	P1378L	probably damaging	Het
Spta1	T	G	1: 174,035,956 (GRCm39)	Y1087*	probably null	Het
Tenm4	A	G	7: 96,378,598 (GRCm39)	E401G	probably damaging	Het
Tom1	C	A	8: 75,781,331 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,257,577 (GRCm39)	V1273D	probably damaging	Het
Vmn2r106	G	T	17: 20,497,837 (GRCm39)	D467E	possibly damaging	Het
Washc4	A	T	10: 83,386,747 (GRCm39)	T124S	probably benign	Het
Zfp790	A	G	7: 29,529,034 (GRCm39)	E573G	probably benign	Het

Other mutations in Dolk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9545:Dolk	UTSW	2	30,176,016 (GRCm39)	missense	probably benign

Posted On

2013-04-17