Mutagenetix > Incidental Mutation

Incidental Mutation 'R0212:Dpm1'

33520

Institutional Source

Beutler Lab

Gene Symbol

Dpm1

Ensembl Gene

ENSMUSG00000078919

Gene Name

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

Synonyms

MMRRC Submission

038463-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

168050968-168072299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 168069414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 5 (N5S)

Ref Sequence

ENSEMBL: ENSMUSP00000104816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099071] [ENSMUST00000109193] [ENSMUST00000138667] [ENSMUST00000154111]

AlphaFold

O70152

Predicted Effect

probably benign
Transcript: ENSMUST00000099071

SMART Domains

Protein: ENSMUSP00000096670
Gene: ENSMUSG00000074576

Domain	Start	End	E-Value	Type
coiled coil region	5	34	N/A	INTRINSIC
Pfam:ThiF	63	303	6e-66	PFAM
RHOD	337	455	7.43e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000099072
AA Change: N48S

SMART Domains

Protein: ENSMUSP00000096671
Gene: ENSMUSG00000078919
AA Change: N48S

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 benign
Transcript: ENSMUST00000109193
AA Change: N5S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104816
Gene: ENSMUSG00000078919
AA Change: N5S

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 benign
Transcript: ENSMUST00000138667
AA Change: N57S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752
AA Change: N57S

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

noncoding transcript
Transcript: ENSMUST00000140249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150437

Predicted Effect

probably benign
Transcript: ENSMUST00000154111
AA Change: N57S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118776
Gene: ENSMUSG00000078919
AA Change: N57S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156800

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,006,254 (GRCm39)		probably null	Het
Adat1	T	A	8: 112,713,840 (GRCm39)	D113V	possibly damaging	Het
Arhgap40	T	G	2: 158,392,495 (GRCm39)	L656V	probably damaging	Het
Atg2a	T	C	19: 6,296,584 (GRCm39)	I330T	probably damaging	Het
Cad	A	G	5: 31,235,454 (GRCm39)	D2137G	probably damaging	Het
Cd8a	G	A	6: 71,350,633 (GRCm39)	E33K	probably benign	Het
Cemip	C	A	7: 83,622,398 (GRCm39)	G594C	probably damaging	Het
Chd6	T	A	2: 160,894,767 (GRCm39)	D31V	probably damaging	Het
Cmpk1	A	T	4: 114,822,216 (GRCm39)	M111K	possibly damaging	Het
Crispld2	T	G	8: 120,737,370 (GRCm39)	H40Q	probably benign	Het
Depdc5	A	G	5: 33,069,586 (GRCm39)	T441A	probably benign	Het
Ercc4	A	G	16: 12,941,196 (GRCm39)		probably null	Het
Fam83f	A	T	15: 80,574,779 (GRCm39)	M229L	probably benign	Het
Fgd5	A	T	6: 91,965,189 (GRCm39)	D474V	probably damaging	Het
Fgf21	G	T	7: 45,263,526 (GRCm39)	P184Q	probably benign	Het
Fry	A	T	5: 150,419,862 (GRCm39)	D1008V	probably damaging	Het
Gjd2	T	C	2: 113,841,953 (GRCm39)	T175A	probably benign	Het
Gphn	C	T	12: 78,684,326 (GRCm39)	T577I	probably damaging	Het
Ifi207	A	T	1: 173,563,964 (GRCm39)	N18K	possibly damaging	Het
Ifne	T	C	4: 88,797,972 (GRCm39)	R149G	possibly damaging	Het
Ift80	A	T	3: 68,847,506 (GRCm39)	L330H	probably benign	Het
Inpp4b	A	T	8: 82,497,546 (GRCm39)	H122L	probably benign	Het
Inpp5e	T	C	2: 26,298,352 (GRCm39)		probably null	Het
Ism1	T	C	2: 139,582,177 (GRCm39)	L163S	probably benign	Het
Itga11	T	A	9: 62,653,251 (GRCm39)	V375E	probably benign	Het
Itpr3	T	G	17: 27,308,293 (GRCm39)	F306V	probably damaging	Het
Kif19a	A	T	11: 114,675,736 (GRCm39)	I403F	possibly damaging	Het
Klf12	A	T	14: 100,260,298 (GRCm39)	S144T	probably benign	Het
Lyst	C	T	13: 13,810,570 (GRCm39)	H747Y	possibly damaging	Het
Mccc2	A	G	13: 100,091,163 (GRCm39)	Y445H	probably benign	Het
Mei1	G	A	15: 81,980,132 (GRCm39)		probably null	Het
Metap2	T	A	10: 93,697,242 (GRCm39)	K479N	probably damaging	Het
Mief2	A	T	11: 60,621,493 (GRCm39)	D62V	probably damaging	Het
Mtrf1	A	G	14: 79,656,719 (GRCm39)	D407G	probably benign	Het
Myo3a	A	G	2: 22,296,659 (GRCm39)	R210G	probably damaging	Het
Nkx2-2	T	C	2: 147,026,090 (GRCm39)	H216R	probably damaging	Het
Nos1	A	G	5: 118,048,277 (GRCm39)	E694G	possibly damaging	Het
Nptn	A	T	9: 58,535,164 (GRCm39)	Y103F	probably benign	Het
Nrxn1	A	G	17: 90,670,186 (GRCm39)		probably benign	Het
Numbl	T	C	7: 26,980,184 (GRCm39)	S389P	probably damaging	Het
Or10d5	A	G	9: 39,861,236 (GRCm39)	V277A	probably benign	Het
Or1q1	T	A	2: 36,887,644 (GRCm39)	V274E	possibly damaging	Het
Or1q1	A	T	2: 36,887,335 (GRCm39)	D171V	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5d16	A	G	2: 87,773,435 (GRCm39)	F179S	probably damaging	Het
Or5i1	C	T	2: 87,613,826 (GRCm39)	P314L	unknown	Het
Or8g20	C	A	9: 39,396,384 (GRCm39)	S55I	probably damaging	Het
Osm	T	G	11: 4,188,465 (GRCm39)	S31A	probably benign	Het
Paqr4	T	C	17: 23,957,294 (GRCm39)	M70V	probably benign	Het
Pikfyve	T	A	1: 65,302,064 (GRCm39)	Y1607N	probably benign	Het
Plec	A	C	15: 76,075,505 (GRCm39)	Y402*	probably null	Het
Polq	A	G	16: 36,887,216 (GRCm39)	K1631E	probably damaging	Het
Pou6f1	A	G	15: 100,478,696 (GRCm39)	V129A	possibly damaging	Het
Prm2	A	G	16: 10,609,463 (GRCm39)		probably benign	Het
Prtn3	A	G	10: 79,716,971 (GRCm39)	Y112C	probably damaging	Het
Qrfp	T	A	2: 31,698,797 (GRCm39)	H45L	probably benign	Het
Rps6ka5	A	T	12: 100,519,428 (GRCm39)		probably null	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Slc10a1	A	C	12: 81,014,486 (GRCm39)	L78R	possibly damaging	Het
Slc26a5	A	T	5: 22,028,547 (GRCm39)	Y340*	probably null	Het
Sptbn2	T	C	19: 4,796,970 (GRCm39)		probably null	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Tmem131l	A	T	3: 83,820,575 (GRCm39)	S1226T	probably benign	Het
Togaram2	C	T	17: 72,031,978 (GRCm39)	L866F	probably damaging	Het
Txndc17	A	G	11: 72,098,558 (GRCm39)	T37A	probably benign	Het
Vmn2r105	C	A	17: 20,428,827 (GRCm39)	V750F	possibly damaging	Het
Vmn2r54	T	A	7: 12,366,424 (GRCm39)	Y170F	probably benign	Het
Wrnip1	T	C	13: 33,005,889 (GRCm39)	V577A	probably benign	Het
Zc3h7b	A	G	15: 81,660,529 (GRCm39)	T226A	probably benign	Het
Zfp948	T	C	17: 21,808,422 (GRCm39)	I538T	probably benign	Het
Zzef1	A	G	11: 72,764,736 (GRCm39)	E1401G	possibly damaging	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
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
R7169:Dpm1	UTSW	2	168,053,343 (GRCm39)	nonsense	probably null
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'- TTCAATCGCAAGGTCTGCTGCCTC -3'
(R):5'- AGCACGAGTTTCCTGGGTGACTTC -3'

Sequencing Primer
(F):5'- GCCTCGGATCTTCCCAGAC -3'
(R):5'- CTAGGTTCCACATTAAGGTCAGG -3'

Posted On

2013-05-09