Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Mpdu1'

32500

Institutional Source

Beutler Lab

Gene Symbol

Mpdu1

Ensembl Gene

ENSMUSG00000018761

Gene Name

mannose-P-dolichol utilization defect 1

Synonyms

SL15, Supl15h, LEC35

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R0010 (G1)

Quality Score

192

Status

Validated (trace)

Chromosome

Chromosomal Location

69547523-69553468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69549667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 47 (G47R)

Ref Sequence

ENSEMBL: ENSMUSP00000117715 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000018905
AA Change: G47R

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

SMART Domains

Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761
AA Change: G47R

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: 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

unknown
Transcript: ENSMUST00000125389
AA Change: G29R

SMART Domains

Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761
AA Change: G29R

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

noncoding transcript
Transcript: ENSMUST00000127118

Predicted Effect

unknown
Transcript: ENSMUST00000129224
AA Change: G44R

SMART Domains

Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761
AA Change: G44R

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

noncoding transcript
Transcript: ENSMUST00000137288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139155

Predicted Effect

probably damaging
Transcript: ENSMUST00000148242
AA Change: G47R

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

SMART Domains

Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761
AA Change: G47R

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 damaging
Transcript: ENSMUST00000155200
AA Change: G47R

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

SMART Domains

Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761
AA Change: G47R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153217

Meta Mutation Damage Score

0.9747

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (89/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,410,607 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aoc1l3	A	T	6: 48,965,840 (GRCm39)	H616L	probably damaging	Het
Bbs7	T	C	3: 36,661,866 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,599,818 (GRCm39)	K1566E	probably damaging	Het
Ccdc73	C	T	2: 104,811,332 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,942,143 (GRCm39)	H124L	probably benign	Het
Cd74	A	T	18: 60,936,968 (GRCm39)		probably benign	Het
Cdk5rap2	T	C	4: 70,161,696 (GRCm39)	E270G	probably benign	Het
Ces2a	G	A	8: 105,468,028 (GRCm39)	D520N	probably benign	Het
Cldnd1	T	A	16: 58,551,622 (GRCm39)		probably benign	Het
Cox17	T	A	16: 38,167,532 (GRCm39)	C24S	possibly damaging	Het
Cyp2b9	T	A	7: 25,886,178 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,803,997 (GRCm39)	L1112P	probably benign	Het
Dennd4c	T	C	4: 86,699,814 (GRCm39)	S222P	probably damaging	Het
Dhx37	T	A	5: 125,508,680 (GRCm39)	Q85L	probably benign	Het
Egfem1	G	T	3: 29,637,068 (GRCm39)	C192F	probably damaging	Het
Eif3f	A	T	7: 108,540,212 (GRCm39)	N336Y	possibly damaging	Het
Evc2	T	A	5: 37,574,793 (GRCm39)	L1016Q	probably damaging	Het
Fam114a2	G	T	11: 57,404,982 (GRCm39)	T40N	probably damaging	Het
Fam135b	T	C	15: 71,493,881 (GRCm39)	K16R	probably damaging	Het
Fcho1	A	G	8: 72,162,643 (GRCm39)	Y725H	probably damaging	Het
Frem1	T	C	4: 82,918,335 (GRCm39)	I536V	probably benign	Het
Galnt2l	G	A	8: 122,997,337 (GRCm39)		probably benign	Het
Ginm1	T	C	10: 7,651,138 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,767,622 (GRCm39)		probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10320	T	C	13: 98,626,054 (GRCm39)	Y110C	probably damaging	Het
Gm3985	A	T	8: 33,432,484 (GRCm39)		noncoding transcript	Het
Gm5422	A	G	10: 31,125,750 (GRCm39)		noncoding transcript	Het
Igkv6-29	A	T	6: 70,115,754 (GRCm39)		probably benign	Het
Inpp5d	G	A	1: 87,625,268 (GRCm39)		probably null	Het
Itpr3	T	G	17: 27,339,951 (GRCm39)	V2610G	probably damaging	Het
Kmt5c	T	A	7: 4,749,207 (GRCm39)	M88K	probably benign	Het
Lrp12	C	T	15: 39,741,672 (GRCm39)	A367T	probably damaging	Het
Ltbp1	A	G	17: 75,670,386 (GRCm39)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Milr1	T	G	11: 106,657,829 (GRCm39)	*209G	probably null	Het
Mitf	A	G	6: 97,784,242 (GRCm39)	K33R	probably benign	Het
Mon2	A	C	10: 122,868,599 (GRCm39)	S485A	probably damaging	Het
Ms4a4d	A	G	19: 11,532,190 (GRCm39)	N112S	probably damaging	Het
Mybpc3	G	A	2: 90,965,178 (GRCm39)	W1082*	probably null	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Naa15	A	T	3: 51,343,634 (GRCm39)		probably null	Het
Nav3	A	G	10: 109,659,087 (GRCm39)		probably benign	Het
Nek7	T	A	1: 138,471,942 (GRCm39)	Q66L	possibly damaging	Het
Nktr	G	A	9: 121,570,232 (GRCm39)		probably benign	Het
Nlgn1	G	T	3: 25,490,006 (GRCm39)		probably benign	Het
Npr1	T	C	3: 90,362,139 (GRCm39)	E1002G	probably damaging	Het
Nup133	A	T	8: 124,631,318 (GRCm39)	I1072N	probably damaging	Het
Oc90	C	T	15: 65,748,397 (GRCm39)	C371Y	probably damaging	Het
Or5ak24	A	T	2: 85,260,239 (GRCm39)	D311E	probably benign	Het
Or7g20	A	T	9: 18,946,618 (GRCm39)	L66F	probably damaging	Het
Or8b42	A	T	9: 38,342,216 (GRCm39)	I213F	possibly damaging	Het
Pradc1	A	T	6: 85,424,213 (GRCm39)	N44K	probably damaging	Het
Pradc1	T	C	6: 85,424,602 (GRCm39)	D116G	probably damaging	Het
Ptprk	G	A	10: 28,461,965 (GRCm39)	C91Y	probably damaging	Het
Pus7	T	C	5: 23,952,843 (GRCm39)	I491V	probably benign	Het
Rock1	T	A	18: 10,084,380 (GRCm39)	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,643,774 (GRCm39)	E55D	probably damaging	Het
Scn8a	T	C	15: 100,911,454 (GRCm39)	V958A	probably damaging	Het
Sec14l1	T	C	11: 117,034,596 (GRCm39)		probably benign	Het
Sec24c	A	G	14: 20,739,329 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,431,105 (GRCm39)	E853K	probably benign	Het
Sgk1	G	A	10: 21,873,337 (GRCm39)		probably null	Het
Shprh	C	T	10: 11,027,675 (GRCm39)	T94I	probably benign	Het
Slc16a3	T	C	11: 120,847,531 (GRCm39)	S240P	probably benign	Het
Slc5a8	T	C	10: 88,722,452 (GRCm39)	V95A	probably benign	Het
Smg1	A	T	7: 117,771,082 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,045,509 (GRCm39)	V1556I	probably benign	Het
Trappc14	T	C	5: 138,258,555 (GRCm39)		probably null	Het
Trappc4	G	A	9: 44,316,528 (GRCm39)		probably benign	Het
Tubgcp6	A	G	15: 88,987,386 (GRCm39)	S1188P	probably benign	Het
Txlna	T	G	4: 129,522,879 (GRCm39)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,978,502 (GRCm39)	F51S	possibly damaging	Het
Vmn2r6	G	A	3: 64,466,966 (GRCm39)	Q178*	probably null	Het
Wdfy3	T	C	5: 101,996,215 (GRCm39)	T3234A	probably damaging	Het
Ylpm1	C	A	12: 85,075,800 (GRCm39)	Q384K	probably damaging	Het
Zbtb41	T	G	1: 139,351,268 (GRCm39)	V127G	probably damaging	Het
Zfp605	T	A	5: 110,275,400 (GRCm39)	C173S	probably benign	Het
Zfp608	A	T	18: 55,028,286 (GRCm39)		probably benign	Het
Zhx2	T	C	15: 57,684,670 (GRCm39)	V13A	possibly damaging	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
R6904:Mpdu1	UTSW	11	69,549,411 (GRCm39)	missense	probably benign	0.05
R6939:Mpdu1	UTSW	11	69,548,881 (GRCm39)	intron	probably benign
R8199:Mpdu1	UTSW	11	69,548,069 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCACTAGCTCCAGCATTACTGAC -3'
(R):5'- TCTGTAGCAAGGATGTTTGCCCTG -3'

Sequencing Primer
(F):5'- ATTACTGACTGGAGACTCAGTCC -3'
(R):5'- GATGTTTGCCCTGTCATCCC -3'

Posted On

2013-05-09