Mutagenetix > Incidental Mutation

Incidental Mutation 'R7896:Dolk'

609654

Institutional Source

Beutler Lab

Gene Symbol

Dolk

Ensembl Gene

ENSMUSG00000075419

Gene Name

dolichol kinase

Synonyms

Tmem15

MMRRC Submission

045948-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30174243-30176346 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30175961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 28 (V28E)

Ref Sequence

ENSEMBL: ENSMUSP00000097792 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000100219
AA Change: V28E

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419
AA Change: V28E

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,840,792 (GRCm39)	T894A	probably damaging	Het
Abcc10	T	A	17: 46,635,235 (GRCm39)	H256L	probably benign	Het
Abcc6	A	G	7: 45,626,803 (GRCm39)	L1418P	probably damaging	Het
Actn2	G	A	13: 12,309,203 (GRCm39)	A290V	possibly damaging	Het
Actrt2	A	T	4: 154,751,652 (GRCm39)	D161E	probably benign	Het
Adam19	T	A	11: 46,028,370 (GRCm39)	C668S	probably damaging	Het
Alg8	T	C	7: 97,040,123 (GRCm39)	L435S	probably damaging	Het
Amz2	G	A	11: 109,327,413 (GRCm39)	E322K	possibly damaging	Het
Ankrd12	T	A	17: 66,292,680 (GRCm39)	R918*	probably null	Het
Atp5pb	A	G	3: 105,863,259 (GRCm39)	I59T	probably damaging	Het
Bach1	T	A	16: 87,515,893 (GRCm39)	C145S	possibly damaging	Het
Bcl6b	G	T	11: 70,117,848 (GRCm39)	S309*	probably null	Het
Birc6	G	T	17: 74,929,077 (GRCm39)	R2323L	probably damaging	Het
Catspere2	A	T	1: 177,938,740 (GRCm39)	M538L	probably benign	Het
Ccdc154	A	T	17: 25,390,800 (GRCm39)	M647L	probably benign	Het
Cdc14a	T	C	3: 116,088,482 (GRCm39)	T447A	probably benign	Het
Chst9	C	T	18: 15,585,846 (GRCm39)	R239H	probably damaging	Het
Cs	C	T	10: 128,189,004 (GRCm39)	A171V	probably damaging	Het
D3Ertd751e	T	A	3: 41,710,508 (GRCm39)	F107I	probably benign	Het
D430041D05Rik	T	C	2: 104,088,385 (GRCm39)	D197G	probably benign	Het
Dcdc2c	G	A	12: 28,520,619 (GRCm39)	Q486*	probably null	Het
Dpf2	C	T	19: 5,954,333 (GRCm39)	S191N	probably benign	Het
Eml3	T	A	19: 8,911,171 (GRCm39)	F267I	possibly damaging	Het
Entrep2	T	C	7: 64,426,557 (GRCm39)	H232R	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Foxo3	T	C	10: 42,073,732 (GRCm39)	S262G	possibly damaging	Het
Gm1527	T	G	3: 28,975,742 (GRCm39)		probably null	Het
Gm49380	G	A	9: 44,024,096 (GRCm39)	L51F	probably damaging	Het
Gm9195	A	T	14: 72,693,178 (GRCm39)	H1582Q	unknown	Het
Grip1	A	G	10: 119,814,450 (GRCm39)	Q327R	possibly damaging	Het
Gstt1	A	G	10: 75,619,976 (GRCm39)	F207S	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kif16b	A	G	2: 142,675,995 (GRCm39)		probably null	Het
Kif5a	A	G	10: 127,077,873 (GRCm39)	V407A	probably benign	Het
Lrrc57	C	A	2: 120,438,372 (GRCm39)	D134Y	probably damaging	Het
Map1a	A	G	2: 121,135,657 (GRCm39)	T2158A	probably benign	Het
Mink1	A	G	11: 70,503,108 (GRCm39)	N1068S	possibly damaging	Het
Mmp8	A	T	9: 7,564,978 (GRCm39)	I295F	probably damaging	Het
Muc21	G	A	17: 35,930,917 (GRCm39)	P1090S	unknown	Het
Mup18	G	T	4: 61,590,925 (GRCm39)		probably null	Het
Myo1h	G	T	5: 114,474,372 (GRCm39)		probably null	Het
Nap1l5	C	T	6: 58,883,505 (GRCm39)	G52S	probably damaging	Het
Npr3	A	G	15: 11,883,448 (GRCm39)	F327S	probably damaging	Het
Nrxn2	C	A	19: 6,582,083 (GRCm39)	Q1673K	possibly damaging	Het
Or13a20	G	T	7: 140,232,814 (GRCm39)	L307F	probably benign	Het
Or2r3	T	A	6: 42,449,100 (GRCm39)	D4V	probably benign	Het
Paf1	T	C	7: 28,096,072 (GRCm39)	Y260H	probably damaging	Het
Pcmtd2	T	C	2: 181,496,776 (GRCm39)	I251T	probably damaging	Het
Pde9a	C	T	17: 31,678,941 (GRCm39)	Q261*	probably null	Het
Ppip5k1	T	C	2: 121,177,811 (GRCm39)	D332G	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppp1r36	A	G	12: 76,474,923 (GRCm39)		probably null	Het
Pprc1	T	C	19: 46,049,888 (GRCm39)	L67P	unknown	Het
Prkdc	T	G	16: 15,526,767 (GRCm39)	L1346R	probably damaging	Het
Prl7c1	A	T	13: 27,962,070 (GRCm39)	M79K	possibly damaging	Het
Ptprb	C	T	10: 116,205,362 (GRCm39)		probably null	Het
R3hdm1	T	A	1: 128,096,703 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,744,663 (GRCm39)	V1276A	probably benign	Het
Rapsn	T	C	2: 90,875,300 (GRCm39)	L361P	probably benign	Het
Rbm22	G	T	18: 60,702,505 (GRCm39)	A275S	probably benign	Het
Rsph3a	A	G	17: 8,164,940 (GRCm39)	Y100C	probably damaging	Het
Rsrp1	A	T	4: 134,651,274 (GRCm39)	M13L	unknown	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Setd7	C	A	3: 51,444,077 (GRCm39)		probably null	Het
Slc38a2	A	G	15: 96,591,466 (GRCm39)	I206T	probably damaging	Het
Slc9a8	T	C	2: 167,307,278 (GRCm39)	F321L	probably benign	Het
Sppl2c	A	G	11: 104,077,956 (GRCm39)	D252G	possibly damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,082,397 (GRCm39)	T117A	probably damaging	Het
Szt2	A	T	4: 118,260,110 (GRCm39)	F79I	possibly damaging	Het
Tlr3	T	A	8: 45,850,090 (GRCm39)	K860*	probably null	Het
Ttn	T	C	2: 76,625,018 (GRCm39)	S15187G	probably benign	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Unc5c	A	T	3: 141,476,922 (GRCm39)	T363S	possibly damaging	Het
Usp40	G	A	1: 87,906,201 (GRCm39)	T678I	possibly damaging	Het
Vmn1r62	A	T	7: 5,678,609 (GRCm39)	T97S	probably damaging	Het
Vmn1r85	T	A	7: 12,818,448 (GRCm39)	H232L	probably benign	Het
Vmn2r67	A	G	7: 84,785,920 (GRCm39)	I695T	probably damaging	Het
Zfp383	C	A	7: 29,611,626 (GRCm39)	D35E	probably damaging	Het
Zfp65	A	T	13: 67,877,174 (GRCm39)		probably null	Het
Zfp692	A	G	11: 58,205,062 (GRCm39)	K437R	probably damaging	Het
Zfp831	A	T	2: 174,488,921 (GRCm39)	T1199S	possibly damaging	Het
Zfr	T	A	15: 12,146,463 (GRCm39)	I338N	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGCAAAGGCATGACCATG -3'
(R):5'- CCCTTTTGGAAGCTGGAGAAGG -3'

Sequencing Primer
(F):5'- AGGCATGACCATGGAGGCC -3'
(R):5'- GGTGAAATTGCTGCCCCTCTG -3'

Posted On

2019-12-20