Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02392:Dolk'

294267

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 #

IGL02392

Quality Score

Status

Chromosome

Chromosomal Location

30174243-30176346 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30175740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 102 (N102D)

Ref Sequence

ENSEMBL: ENSMUSP00000097792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064447] [ENSMUST00000091132] [ENSMUST00000100219] [ENSMUST00000113634] [ENSMUST00000113643] [ENSMUST00000113645] [ENSMUST00000127689] [ENSMUST00000154647] [ENSMUST00000138666] [ENSMUST00000133877] [ENSMUST00000148969] [ENSMUST00000138254] [ENSMUST00000150695] [ENSMUST00000139454]

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: N102D

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: N102D

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: 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: 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: 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: 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: 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: 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: 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: 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: 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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
C2cd6	T	C	1: 59,133,997 (GRCm39)	N8S	probably benign	Het
Cdh8	G	A	8: 99,757,387 (GRCm39)	T737M	probably damaging	Het
Celsr3	T	C	9: 108,711,920 (GRCm39)		probably benign	Het
Cenph	T	A	13: 100,909,269 (GRCm39)	Q46L	probably benign	Het
Dlg5	A	G	14: 24,200,277 (GRCm39)	C1395R	probably damaging	Het
Dnah8	C	T	17: 31,037,025 (GRCm39)		probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Farp2	G	A	1: 93,505,372 (GRCm39)	R368Q	probably damaging	Het
Fermt3	A	T	19: 6,996,183 (GRCm39)	M4K	probably benign	Het
Fndc8	A	C	11: 82,789,429 (GRCm39)	T196P	probably damaging	Het
Galc	G	A	12: 98,173,672 (GRCm39)	T630I	probably damaging	Het
Gm21970	T	G	16: 91,211,545 (GRCm39)	S128A	possibly damaging	Het
Gpr146	T	C	5: 139,378,533 (GRCm39)	S112P	probably damaging	Het
Grip2	A	G	6: 91,764,276 (GRCm39)	S51P	probably damaging	Het
Htra2	G	T	6: 83,031,280 (GRCm39)	T43N	possibly damaging	Het
Lnpep	T	C	17: 17,799,445 (GRCm39)	Y70C	possibly damaging	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mtdh	A	T	15: 34,099,723 (GRCm39)	N158Y	probably damaging	Het
Neo1	A	T	9: 58,833,094 (GRCm39)	H550Q	possibly damaging	Het
Or2h1b	C	T	17: 37,461,979 (GRCm39)	V295I	probably benign	Het
Or5p57	A	C	7: 107,665,710 (GRCm39)	F68L	probably benign	Het
Pex1	C	T	5: 3,655,952 (GRCm39)	Q260*	probably null	Het
Pex6	T	C	17: 47,034,425 (GRCm39)	V758A	probably damaging	Het
Qsox1	T	C	1: 155,688,346 (GRCm39)	E67G	probably damaging	Het
Rimbp2	C	T	5: 128,848,861 (GRCm39)	S895N	probably benign	Het
Rnls	A	G	19: 33,180,012 (GRCm39)	V28A	possibly damaging	Het
Spidr	T	C	16: 15,707,494 (GRCm39)	*934W	probably null	Het
Spta1	A	T	1: 174,046,380 (GRCm39)	M1654L	probably damaging	Het
Srbd1	C	A	17: 86,295,801 (GRCm39)	V870F	probably benign	Het
Suco	A	T	1: 161,662,136 (GRCm39)	M765K	probably benign	Het
Taok1	A	G	11: 77,440,178 (GRCm39)	Y610H	probably benign	Het
Thbs1	A	G	2: 117,945,141 (GRCm39)	N238S	probably benign	Het
Them7	T	A	2: 105,209,220 (GRCm39)	L180*	probably null	Het
Trim45	A	G	3: 100,832,621 (GRCm39)	I285V	probably benign	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Ttn	A	G	2: 76,601,887 (GRCm39)	S10265P	probably damaging	Het
Vgll3	A	T	16: 65,612,556 (GRCm39)	Y13F	probably damaging	Het
Ylpm1	T	A	12: 85,061,731 (GRCm39)	M544K	unknown	Het
Ypel1	T	C	16: 16,906,702 (GRCm39)	T500A	probably benign	Het
Zmym1	T	A	4: 126,942,256 (GRCm39)	S711C	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
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

2015-04-16