Mutagenetix > Incidental Mutation

Incidental Mutation 'R7169:Dpm1'

558104

Institutional Source

Beutler Lab

Gene Symbol

Dpm1

Ensembl Gene

ENSMUSG00000078919

Gene Name

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

Synonyms

MMRRC Submission

045229-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7169 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

168050968-168072299 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 168053343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 207 (Y207*)

Ref Sequence

ENSEMBL: ENSMUSP00000118776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057793] [ENSMUST00000088001] [ENSMUST00000109193] [ENSMUST00000138667] [ENSMUST00000154111]

AlphaFold

O70152

Predicted Effect

probably benign
Transcript: ENSMUST00000057793

SMART Domains

Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149

Domain	Start	End	E-Value	Type
ZnF_C2H2	74	97	6.57e0	SMART
ZnF_C2H2	107	129	1.77e1	SMART
low complexity region	130	141	N/A	INTRINSIC
ZnF_C2H2	165	188	1.29e1	SMART
ZnF_C2H2	221	244	1.4e1	SMART
low complexity region	423	437	N/A	INTRINSIC
ZnF_C2H2	446	468	8.62e1	SMART
ZnF_C2H2	488	509	2.54e1	SMART
ZnF_C2H2	511	534	1.03e-2	SMART
low complexity region	582	596	N/A	INTRINSIC
ZnF_C2H2	621	646	1.27e2	SMART
HOX	756	817	2.95e-6	SMART
low complexity region	957	970	N/A	INTRINSIC
low complexity region	1012	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088001

SMART Domains

Protein: ENSMUSP00000085316
Gene: ENSMUSG00000051149

Domain	Start	End	E-Value	Type
ZnF_C2H2	74	97	6.57e0	SMART
ZnF_C2H2	107	129	1.77e1	SMART
low complexity region	130	141	N/A	INTRINSIC
ZnF_C2H2	165	188	1.29e1	SMART
ZnF_C2H2	221	244	1.4e1	SMART
low complexity region	423	437	N/A	INTRINSIC
ZnF_C2H2	446	468	8.62e1	SMART
ZnF_C2H2	488	509	2.54e1	SMART
ZnF_C2H2	511	534	1.03e-2	SMART
low complexity region	582	596	N/A	INTRINSIC
ZnF_C2H2	621	646	1.27e2	SMART
HOX	756	817	2.95e-6	SMART
low complexity region	957	970	N/A	INTRINSIC
low complexity region	1012	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099072

SMART Domains

Protein: ENSMUSP00000096671
Gene: ENSMUSG00000078919

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	16	118	1.8e-11	PFAM
Pfam:Glyco_tranf_2_2	20	119	1.3e-8	PFAM
Pfam:Glycos_transf_2	20	119	6.3e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109193
AA Change: Y155*

SMART Domains

Protein: ENSMUSP00000104816
Gene: ENSMUSG00000078919
AA Change: Y155*

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_2	2	101	1.2e-8	PFAM
Pfam:Glycos_transf_2	2	147	7.8e-36	PFAM
Pfam:Glyco_tranf_2_3	2	187	1.2e-11	PFAM
Pfam:Glyco_transf_21	34	148	1.1e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000138667
AA Change: Y207*

SMART Domains

Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752
AA Change: Y207*

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	24	240	1.1e-13	PFAM
Pfam:Glyco_tranf_2_2	28	153	8.4e-10	PFAM
Pfam:Glycos_transf_2	28	199	3.8e-40	PFAM
Pfam:Glyco_transf_21	87	200	1.5e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000154111
AA Change: Y207*

SMART Domains

Protein: ENSMUSP00000118776
Gene: ENSMUSG00000078919
AA Change: Y207*

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	24	241	3.2e-13	PFAM
Pfam:Glyco_tranf_2_2	28	153	7.6e-10	PFAM
Pfam:Glycos_transf_2	28	199	8.1e-41	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,040,707 (GRCm39)	V870A	probably damaging	Het
Ahi1	T	G	10: 20,930,918 (GRCm39)	D919E	probably damaging	Het
Angptl6	T	A	9: 20,786,475 (GRCm39)	R390S	probably damaging	Het
Arhgef11	A	G	3: 87,634,755 (GRCm39)	I873V	possibly damaging	Het
BC024063	T	C	10: 81,946,293 (GRCm39)	Y638H	possibly damaging	Het
Brsk1	T	C	7: 4,718,403 (GRCm39)	S751P	probably benign	Het
Calhm5	T	A	10: 33,968,160 (GRCm39)	T298S	probably damaging	Het
Cdh20	G	A	1: 104,875,078 (GRCm39)	A287T	possibly damaging	Het
Clic3	G	A	2: 25,348,731 (GRCm39)	R237H	probably benign	Het
Cog6	G	T	3: 52,897,387 (GRCm39)	P562H	possibly damaging	Het
Csnk2a2	A	G	8: 96,215,006 (GRCm39)	Y24H		Het
Ctif	T	C	18: 75,605,087 (GRCm39)	D484G	probably damaging	Het
Cyria	A	G	12: 12,409,233 (GRCm39)	D71G	possibly damaging	Het
Dennd6b	A	T	15: 89,073,055 (GRCm39)	F161I	possibly damaging	Het
Dnah14	G	T	1: 181,529,930 (GRCm39)	V2235L	probably benign	Het
Dnah6	A	T	6: 73,015,729 (GRCm39)	V3636D	probably damaging	Het
Eml3	A	G	19: 8,910,828 (GRCm39)	T227A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eppk1	C	A	15: 75,990,114 (GRCm39)	A2256S	probably benign	Het
Etnppl	A	T	3: 130,414,345 (GRCm39)	N80I	probably damaging	Het
Eya4	A	T	10: 23,031,845 (GRCm39)	N236K	probably benign	Het
Gm12886	T	G	4: 121,273,948 (GRCm39)	Q89H	probably damaging	Het
Gsdme	T	C	6: 50,204,358 (GRCm39)	T200A	probably benign	Het
Hipk1	C	T	3: 103,651,533 (GRCm39)	A1122T	probably benign	Het
Icos	A	G	1: 61,034,705 (GRCm39)	D176G	probably damaging	Het
Igkv5-43	T	A	6: 69,800,519 (GRCm39)	Y56F	probably damaging	Het
Il1r1	T	C	1: 40,332,519 (GRCm39)		probably null	Het
Ildr2	G	A	1: 166,135,503 (GRCm39)		probably null	Het
Ilf3	T	A	9: 21,306,722 (GRCm39)	H305Q	probably damaging	Het
Insrr	A	G	3: 87,715,901 (GRCm39)	H532R	probably benign	Het
Lmbr1l	CACTACATACTACATACTACATACTACATACTACATACTACATAC	CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC	15: 98,807,039 (GRCm39)		probably null	Het
Lmbr1l	ACTACAT	ACTACATGCTACAT	15: 98,807,075 (GRCm39)		probably benign	Het
Lratd1	A	G	12: 14,200,619 (GRCm39)	F36S	probably damaging	Het
Lrrc25	T	G	8: 71,070,437 (GRCm39)	S73A	probably benign	Het
Lrrn1	T	C	6: 107,544,565 (GRCm39)	L121P	probably damaging	Het
Ly6c1	C	A	15: 74,916,495 (GRCm39)	V116L	probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Mroh7	T	A	4: 106,548,836 (GRCm39)	D1009V	probably damaging	Het
Mybpc3	T	C	2: 90,948,524 (GRCm39)	V4A	possibly damaging	Het
Mycbp2	A	G	14: 103,497,636 (GRCm39)	S979P	possibly damaging	Het
Ntn5	C	T	7: 45,336,198 (GRCm39)	R210*	probably null	Het
Nuak1	T	C	10: 84,210,609 (GRCm39)	D493G	probably damaging	Het
Oprk1	T	A	1: 5,659,304 (GRCm39)	D11E	probably benign	Het
Or13a1	G	T	6: 116,471,025 (GRCm39)	A152S	probably benign	Het
Or4f14	A	G	2: 111,742,939 (GRCm39)	M112T	possibly damaging	Het
Or4k37	T	A	2: 111,158,943 (GRCm39)	Y60N	probably damaging	Het
Or56a41	T	C	7: 104,740,397 (GRCm39)	I150V	possibly damaging	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pkm	A	G	9: 59,578,908 (GRCm39)	D296G	possibly damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pop5	T	A	5: 115,378,287 (GRCm39)	V77E	possibly damaging	Het
Ppp1r10	T	C	17: 36,240,365 (GRCm39)	S552P	probably damaging	Het
Rabggta	C	G	14: 55,958,358 (GRCm39)	R101P	probably damaging	Het
Rorc	A	T	3: 94,296,487 (GRCm39)	E243V	probably benign	Het
Setmar	C	A	6: 108,042,049 (GRCm39)	A3E	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc12a7	G	A	13: 73,932,679 (GRCm39)	V56M	probably benign	Het
Snph	T	A	2: 151,436,307 (GRCm39)	N207I	probably damaging	Het
Snx14	A	G	9: 88,280,362 (GRCm39)	V531A	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tlr3	A	T	8: 45,850,056 (GRCm39)	M871K	probably damaging	Het
Tnfrsf11a	A	T	1: 105,772,421 (GRCm39)	R569S	possibly damaging	Het
Trim66	A	G	7: 109,054,328 (GRCm39)	V1294A	probably benign	Het
Vldlr	G	A	19: 27,221,728 (GRCm39)	V698I	probably benign	Het
Vmn2r73	G	A	7: 85,507,663 (GRCm39)	Q550*	probably null	Het
Zdhhc5	A	T	2: 84,532,675 (GRCm39)		probably null	Het
Zfhx3	T	A	8: 109,678,030 (GRCm39)	Y3027N	possibly damaging	Het
Zfp663	C	T	2: 165,194,359 (GRCm39)	S620N	probably benign	Het

Other mutations in Dpm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Dpm1	APN	2	168,052,495 (GRCm39)	missense	probably benign	0.37
PIT4531001:Dpm1	UTSW	2	168,052,472 (GRCm39)	missense	probably benign	0.42
R0200:Dpm1	UTSW	2	168,065,075 (GRCm39)	critical splice acceptor site	probably null
R0212:Dpm1	UTSW	2	168,069,414 (GRCm39)	missense	probably benign	0.00
R1460:Dpm1	UTSW	2	168,052,549 (GRCm39)	missense	probably damaging	1.00
R1889:Dpm1	UTSW	2	168,059,655 (GRCm39)	missense	possibly damaging	0.67
R1974:Dpm1	UTSW	2	168,059,667 (GRCm39)	missense	probably damaging	1.00
R4547:Dpm1	UTSW	2	168,065,073 (GRCm39)	missense	probably damaging	0.98
R4838:Dpm1	UTSW	2	168,052,456 (GRCm39)	missense	probably damaging	1.00
R4887:Dpm1	UTSW	2	168,059,679 (GRCm39)	missense	probably benign	0.01
R6919:Dpm1	UTSW	2	168,072,195 (GRCm39)	missense	probably damaging	1.00
R9526:Dpm1	UTSW	2	168,072,210 (GRCm39)	missense	probably benign
R9746:Dpm1	UTSW	2	168,072,307 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGGTCAAATACACCGATCTAAATG -3'
(R):5'- TCCTTCATGGCTAAGGGAGG -3'

Sequencing Primer
(F):5'- CCGATCTAAATGGTCACCTTTTAGGG -3'
(R):5'- CATGGCTAAGGGAGGGGCTC -3'

Posted On

2019-06-26