Mutagenetix > Incidental Mutation

Incidental Mutation 'R2921:Dpm3'

255511

Institutional Source

Beutler Lab

Gene Symbol

Dpm3

Ensembl Gene

ENSMUSG00000042737

Gene Name

dolichyl-phosphate mannosyltransferase polypeptide 3

Synonyms

1110001H19Rik

MMRRC Submission

040506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89166665-89174386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89174062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 8 (L8F)

Ref Sequence

ENSEMBL: ENSMUSP00000103086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029565] [ENSMUST00000029566] [ENSMUST00000040824] [ENSMUST00000107460] [ENSMUST00000107462] [ENSMUST00000118587] [ENSMUST00000118860] [ENSMUST00000185119] [ENSMUST00000130230]

AlphaFold

Q9D1Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000029565

SMART Domains

Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	95	2.3e-32	PFAM
transmembrane domain	96	118	N/A	INTRINSIC
Pfam:MtN3_slv	127	213	7e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029566

SMART Domains

Protein: ENSMUSP00000029566
Gene: ENSMUSG00000027954

Domain	Start	End	E-Value	Type
Pfam:Ephrin	18	147	1.2e-45	PFAM
low complexity region	187	202	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000040824
AA Change: L8F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040860
Gene: ENSMUSG00000042737
AA Change: L8F

Domain	Start	End	E-Value	Type
Pfam:DPM3	1	92	2.3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107460

SMART Domains

Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	95	4.5e-33	PFAM
Pfam:MtN3_slv	92	159	6.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107462
AA Change: L8F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103086
Gene: ENSMUSG00000042737
AA Change: L8F

Domain	Start	End	E-Value	Type
Pfam:DPM3	1	91	3.7e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118587

SMART Domains

Protein: ENSMUSP00000112904
Gene: ENSMUSG00000027954

Domain	Start	End	E-Value	Type
Pfam:Ephrin	1	90	2.2e-34	PFAM
low complexity region	124	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118860

SMART Domains

Protein: ENSMUSP00000113098
Gene: ENSMUSG00000027954

Domain	Start	End	E-Value	Type
Pfam:Ephrin	15	153	1.4e-58	PFAM
low complexity region	165	180	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130690

Predicted Effect

probably benign
Transcript: ENSMUST00000185119

SMART Domains

Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	74	1.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130230

SMART Domains

Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	1	63	1.7e-23	PFAM
transmembrane domain	64	86	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,393 (GRCm39)	D90G	possibly damaging	Het
Adipor1	T	C	1: 134,353,731 (GRCm39)	V172A	possibly damaging	Het
Akt2	A	G	7: 27,328,411 (GRCm39)	K146R	probably benign	Het
Atg4a	T	C	X: 139,941,768 (GRCm39)	V284A	possibly damaging	Het
Atp6v0a2	C	T	5: 124,794,981 (GRCm39)	T656M	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Ccdc116	T	C	16: 16,960,307 (GRCm39)	H170R	probably benign	Het
Ccn5	G	A	2: 163,674,266 (GRCm39)	R222Q	probably benign	Het
Cemip2	A	G	19: 21,795,303 (GRCm39)	D732G	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Fhl3	T	C	4: 124,599,463 (GRCm39)	S13P	probably damaging	Het
Fndc1	A	G	17: 8,023,707 (GRCm39)	S83P	probably damaging	Het
Gapvd1	A	T	2: 34,578,875 (GRCm39)	I1249N	probably damaging	Het
Gbp7	A	T	3: 142,240,333 (GRCm39)	E17V	probably benign	Het
Gm57858	T	C	3: 36,080,077 (GRCm39)	M227V	probably null	Het
Golga4	T	A	9: 118,388,411 (GRCm39)	S1844R	possibly damaging	Het
Grm7	T	A	6: 111,472,866 (GRCm39)		probably null	Het
Hdc	G	A	2: 126,435,910 (GRCm39)	P654S	probably damaging	Het
Hgd	T	C	16: 37,439,330 (GRCm39)	F213L	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Mboat2	T	A	12: 25,004,239 (GRCm39)	W347R	probably damaging	Het
Mlkl	T	C	8: 112,043,079 (GRCm39)	E356G	probably benign	Het
Ncor2	A	G	5: 125,132,855 (GRCm39)	F44S	probably damaging	Het
Nipal3	A	T	4: 135,204,776 (GRCm39)	I125N	probably damaging	Het
Nr1h4	A	T	10: 89,334,223 (GRCm39)	Y42N	probably damaging	Het
Nup155	A	C	15: 8,183,125 (GRCm39)	E1228D	probably damaging	Het
Or4c113	A	G	2: 88,884,843 (GRCm39)	V309A	probably benign	Het
Pde4dip	T	C	3: 97,626,885 (GRCm39)	N1218D	probably benign	Het
Ralgps1	A	T	2: 33,033,082 (GRCm39)	I449N	probably damaging	Het
Rdm1	T	A	11: 101,521,716 (GRCm39)	L157H	possibly damaging	Het
Rfx7	G	A	9: 72,524,946 (GRCm39)	G712D	possibly damaging	Het
Rnf151	C	T	17: 24,935,235 (GRCm39)	G232D	possibly damaging	Het
Rpl22	C	A	4: 152,412,002 (GRCm39)	T26N	possibly damaging	Het
Rptn	A	G	3: 93,306,015 (GRCm39)	Y1116C	possibly damaging	Het
Safb2	A	G	17: 56,875,906 (GRCm39)	V89A	possibly damaging	Het
Setx	TGTGG	TG	2: 29,044,072 (GRCm39)		probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc24a2	A	G	4: 86,909,591 (GRCm39)	V660A	possibly damaging	Het
Slc26a2	T	A	18: 61,335,007 (GRCm39)	I149F	probably damaging	Het
Slc6a15	A	G	10: 103,254,248 (GRCm39)	D728G	probably damaging	Het
Slfn3	A	G	11: 83,105,871 (GRCm39)	M623V	probably benign	Het
Smim1	A	G	4: 154,108,097 (GRCm39)		probably benign	Het
Spatc1	T	C	15: 76,168,125 (GRCm39)	S195P	probably damaging	Het
Tmx1	T	A	12: 70,512,895 (GRCm39)	C268S	probably benign	Het
Trpc6	A	T	9: 8,653,034 (GRCm39)	L613F	possibly damaging	Het
Vmn2r60	T	A	7: 41,790,459 (GRCm39)	V482E	probably damaging	Het
Zdhhc18	G	T	4: 133,360,455 (GRCm39)	H82Q	probably benign	Het
Zfp507	T	C	7: 35,494,224 (GRCm39)	E273G	probably damaging	Het

Other mutations in Dpm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4180:Dpm3	UTSW	3	89,174,039 (GRCm39)	unclassified	probably benign
R4375:Dpm3	UTSW	3	89,174,215 (GRCm39)	missense	probably damaging	1.00
R7486:Dpm3	UTSW	3	89,174,034 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTACAGTTCCCAGAAGGCAG -3'
(R):5'- CGTGAAATGTAGCTACGCGATAG -3'

Sequencing Primer
(F):5'- ACTTCCGGATGCTGATGC -3'
(R):5'- ATAGCCCACCGTGCCCAG -3'

Posted On

2014-12-29