Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03247:Dolk'

414448

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 #

IGL03247

Quality Score

Status

Chromosome

Chromosomal Location

30174243-30176346 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30175523 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000154647] [ENSMUST00000148969] [ENSMUST00000138666] [ENSMUST00000133877] [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 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

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: ENSMUST00000129512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156023

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: 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: 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: 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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	A	14: 56,007,553 (GRCm39)	I926F	probably damaging	Het
Agap3	A	G	5: 24,692,820 (GRCm39)	N418D	probably damaging	Het
Alms1	T	C	6: 85,655,579 (GRCm39)	V3375A	possibly damaging	Het
Ankrd6	T	A	4: 32,860,441 (GRCm39)	M1L	possibly damaging	Het
Aox4	A	G	1: 58,303,526 (GRCm39)	D1188G	probably damaging	Het
Car2	T	A	3: 14,952,999 (GRCm39)	L47Q	probably damaging	Het
Catsper2	A	G	2: 121,240,681 (GRCm39)	V107A	probably benign	Het
Catsperg2	T	C	7: 29,416,473 (GRCm39)	N313S	possibly damaging	Het
Erfe	A	G	1: 91,298,147 (GRCm39)	E219G	probably benign	Het
Ern2	T	C	7: 121,770,894 (GRCm39)	E733G	probably benign	Het
Fam228a	A	G	12: 4,787,734 (GRCm39)	F13S	probably damaging	Het
Fancd2	T	C	6: 113,545,169 (GRCm39)	V829A	probably benign	Het
Gid4	C	A	11: 60,323,169 (GRCm39)	T87N	probably benign	Het
H2-Ob	A	G	17: 34,462,466 (GRCm39)	K152R	probably benign	Het
Ifna2	T	A	4: 88,601,614 (GRCm39)	T135S	probably benign	Het
Il1rapl2	G	A	X: 137,690,429 (GRCm39)	G298D	probably damaging	Het
Mbd1	T	A	18: 74,407,825 (GRCm39)	L174*	probably null	Het
Mga	T	A	2: 119,765,994 (GRCm39)	D1341E	possibly damaging	Het
Mmp12	T	A	9: 7,348,631 (GRCm39)	M54K	probably benign	Het
Mphosph8	T	A	14: 56,916,277 (GRCm39)		probably null	Het
Mrps23	A	G	11: 88,100,922 (GRCm39)		probably benign	Het
Necab1	C	T	4: 14,960,046 (GRCm39)	M300I	probably benign	Het
Nid2	G	A	14: 19,829,688 (GRCm39)	D660N	probably damaging	Het
Or2ag12	T	A	7: 106,276,754 (GRCm39)	H313L	probably benign	Het
Or9r7	T	A	10: 129,962,584 (GRCm39)	E114V	probably damaging	Het
P2ry13	A	T	3: 59,117,013 (GRCm39)	V255D	possibly damaging	Het
Peak1	C	T	9: 56,165,214 (GRCm39)	E905K	probably damaging	Het
Picalm	C	A	7: 89,843,499 (GRCm39)	Q550K	probably benign	Het
Rnf103	T	A	6: 71,487,289 (GRCm39)	V640E	possibly damaging	Het
Sec31b	T	G	19: 44,507,379 (GRCm39)	K817N	possibly damaging	Het
Shisal2a	A	T	4: 108,225,098 (GRCm39)	C155S	probably benign	Het
Skint2	C	A	4: 112,483,223 (GRCm39)	H209Q	probably benign	Het
Skint5	T	C	4: 113,798,005 (GRCm39)	S193G	probably damaging	Het
Tacr3	A	G	3: 134,635,852 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,753,680 (GRCm39)	M1041V	possibly damaging	Het
Tm4sf1	A	G	3: 57,200,436 (GRCm39)	S89P	possibly damaging	Het
Tusc3	T	A	8: 39,597,931 (GRCm39)	N299K	possibly damaging	Het
Washc4	T	C	10: 83,400,327 (GRCm39)	S418P	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
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

2016-08-02