Mutagenetix > Incidental Mutation

Incidental Mutation 'R8199:Mpdu1'

635599

Institutional Source

Beutler Lab

Gene Symbol

Mpdu1

Ensembl Gene

ENSMUSG00000018761

Gene Name

mannose-P-dolichol utilization defect 1

Synonyms

SL15, Supl15h, LEC35

MMRRC Submission

067622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R8199 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69547523-69553468 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 69548069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 235 (W235*)

Ref Sequence

ENSEMBL: ENSMUSP00000018905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000018909] [ENSMUST00000047373] [ENSMUST00000148242] [ENSMUST00000155200]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000018905
AA Change: W235*

SMART Domains

Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761
AA Change: W235*

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	141	157	N/A	INTRINSIC
CTNS	167	198	5.56e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000018909

SMART Domains

Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765

Domain	Start	End	E-Value	Type
Pfam:Agenet	72	130	1.3e-10	PFAM
KH	227	294	3.06e-3	SMART
KH	295	366	4.16e-5	SMART
low complexity region	368	380	N/A	INTRINSIC
low complexity region	389	406	N/A	INTRINSIC
low complexity region	423	442	N/A	INTRINSIC
low complexity region	475	503	N/A	INTRINSIC
Pfam:FXR_C1	504	579	2.5e-36	PFAM
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047373

SMART Domains

Protein: ENSMUSP00000048524
Gene: ENSMUSG00000041287

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
HMG	46	116	6.83e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125389

SMART Domains

Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
CTNS	39	70	1.69e-6	SMART
low complexity region	89	104	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761
AA Change: G164R

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
CTNS	54	85	1.69e-6	SMART
low complexity region	138	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148242

SMART Domains

Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	98	109	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000155200

SMART Domains

Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the PQ-loop superfamily. A similar gene in human encodes a protein that is required for monosaccharide-P-dolichol-dependent glycosyltransferase reactions, and disruption of this gene is the cause of congenital disorder of glycosylation (CDG) type 1F, a disease linked to defects in protein N-glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,304 (GRCm39)	Y336H	probably damaging	Het
4930563I02Rik	A	G	14: 60,333,388 (GRCm39)	I42M	noncoding transcript	Het
Acad9	T	C	3: 36,139,572 (GRCm39)	S391P	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Cacna1c	T	C	6: 118,651,545 (GRCm39)	T972A	probably benign	Het
Col25a1	G	A	3: 130,345,628 (GRCm39)	G406E	probably damaging	Het
Coro2b	T	G	9: 62,336,302 (GRCm39)	I267L	probably benign	Het
Cst12	A	G	2: 148,631,459 (GRCm39)	N60S	probably benign	Het
Dnah8	A	T	17: 31,090,393 (GRCm39)	I4632F	probably benign	Het
Eif3d	C	T	15: 77,844,292 (GRCm39)	C404Y	possibly damaging	Het
Elapor2	C	T	5: 9,470,657 (GRCm39)	T260M	probably damaging	Het
Fam43a	A	T	16: 30,419,586 (GRCm39)	K57*	probably null	Het
Fbrs	T	C	7: 127,086,956 (GRCm39)		probably null	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Fggy	G	A	4: 95,700,381 (GRCm39)	E351K	probably benign	Het
Gabra6	G	A	11: 42,207,280 (GRCm39)	S268L	probably damaging	Het
Gatm	A	G	2: 122,432,994 (GRCm39)	Y223H	probably damaging	Het
Gli3	T	A	13: 15,900,576 (GRCm39)	M1321K	probably benign	Het
Hira	G	A	16: 18,766,194 (GRCm39)	A669T	probably benign	Het
Hoxa5	T	C	6: 52,181,240 (GRCm39)	S31G	probably benign	Het
Kdm2a	T	A	19: 4,439,054 (GRCm39)	Q25L	unknown	Het
Loxhd1	C	A	18: 77,469,334 (GRCm39)	N1000K	possibly damaging	Het
Msantd2	G	C	9: 37,400,789 (GRCm39)	G57A	probably benign	Het
Nat1	A	G	8: 67,943,650 (GRCm39)	R9G	probably damaging	Het
Nbl1	G	A	4: 138,810,880 (GRCm39)	P105S	probably damaging	Het
Or2j3	T	C	17: 38,615,444 (GRCm39)	R303G	probably benign	Het
Or52e4	A	C	7: 104,705,852 (GRCm39)	Q133P	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pdzrn3	T	C	6: 101,128,918 (GRCm39)	S583G	probably damaging	Het
Prpf4	A	G	4: 62,340,866 (GRCm39)	D427G	probably damaging	Het
Ptpn21	T	A	12: 98,644,841 (GRCm39)	I1167F	possibly damaging	Het
Rasgrp1	T	A	2: 117,124,293 (GRCm39)	H303L	probably damaging	Het
Ros1	T	A	10: 51,977,813 (GRCm39)	K1499*	probably null	Het
Skida1	C	A	2: 18,052,959 (GRCm39)	L64F	probably damaging	Het
St3gal5	T	C	6: 72,119,175 (GRCm39)	Y123H	probably benign	Het
Syk	T	C	13: 52,778,768 (GRCm39)	S285P	probably benign	Het
Syt4	T	C	18: 31,577,268 (GRCm39)	T29A	probably benign	Het
Trav7-3	A	G	14: 53,681,099 (GRCm39)	D47G	possibly damaging	Het
Trpm7	A	G	2: 126,691,918 (GRCm39)	F146L	probably damaging	Het
Utp20	A	T	10: 88,634,337 (GRCm39)	D786E	probably benign	Het
Uts2	G	A	4: 151,086,115 (GRCm39)	C117Y	possibly damaging	Het
Zfp553	T	C	7: 126,835,468 (GRCm39)	L341P	probably damaging	Het
Zfp994	T	A	17: 22,419,204 (GRCm39)	K582*	probably null	Het

Other mutations in Mpdu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Mpdu1	APN	11	69,548,151 (GRCm39)	missense	probably damaging	1.00
IGL02488:Mpdu1	APN	11	69,549,435 (GRCm39)	missense	probably damaging	1.00
R0010:Mpdu1	UTSW	11	69,549,667 (GRCm39)	missense	probably damaging	1.00
R6904:Mpdu1	UTSW	11	69,549,411 (GRCm39)	missense	probably benign	0.05
R6939:Mpdu1	UTSW	11	69,548,881 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTCACAAGGAGGGATCTG -3'
(R):5'- TCACTTCTGTTCAGGTGAGTGC -3'

Sequencing Primer
(F):5'- GGGCCTACACAAGCTTTACTG -3'
(R):5'- GAGTGCACCTTCTGCCCACTAG -3'

Posted On

2020-07-13