Mutagenetix > Incidental Mutation

Incidental Mutation 'R7659:Mogs'

591432

Institutional Source

Beutler Lab

Gene Symbol

Mogs

Ensembl Gene

ENSMUSG00000030036

Gene Name

mannosyl-oligosaccharide glucosidase

Synonyms

1810017N02Rik, Gcs1

MMRRC Submission

045734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83092477-83095879 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 83093806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032111] [ENSMUST00000032114] [ENSMUST00000113935] [ENSMUST00000113936] [ENSMUST00000143814] [ENSMUST00000146328] [ENSMUST00000151393] [ENSMUST00000205023]

AlphaFold

Q80UM7

Predicted Effect

probably benign
Transcript: ENSMUST00000032111

SMART Domains

Protein: ENSMUSP00000032111
Gene: ENSMUSG00000030035

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	31	N/A	INTRINSIC
Pfam:WBP-1	71	177	1.4e-50	PFAM
low complexity region	185	200	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000032114

SMART Domains

Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	74	90	N/A	INTRINSIC
Pfam:Glyco_hydro_63N	91	267	1.1e-54	PFAM
Pfam:Glyco_hydro_63	349	832	7e-202	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113935

SMART Domains

Protein: ENSMUSP00000109568
Gene: ENSMUSG00000030034

Domain	Start	End	E-Value	Type
low complexity region	53	69	N/A	INTRINSIC
low complexity region	159	167	N/A	INTRINSIC
low complexity region	191	207	N/A	INTRINSIC
Pfam:PAPA-1	228	309	4e-23	PFAM
Pfam:zf-HIT	324	355	4.3e-11	PFAM
low complexity region	360	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113936

SMART Domains

Protein: ENSMUSP00000109569
Gene: ENSMUSG00000030035

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:WBP-1	36	142	1.2e-50	PFAM
low complexity region	150	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131936

Predicted Effect

probably benign
Transcript: ENSMUST00000143814

Predicted Effect

probably benign
Transcript: ENSMUST00000146328

SMART Domains

Protein: ENSMUSP00000122900
Gene: ENSMUSG00000030035

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	30	N/A	INTRINSIC
Pfam:WBP-1	70	176	1.8e-50	PFAM
low complexity region	184	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151393

SMART Domains

Protein: ENSMUSP00000145130
Gene: ENSMUSG00000030035

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	31	N/A	INTRINSIC
Pfam:WBP-1	71	96	4.4e-6	PFAM
low complexity region	102	113	N/A	INTRINSIC
low complexity region	171	189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205023

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,707,023 (GRCm39)	E498G	probably damaging	Het
Ankar	T	C	1: 72,729,294 (GRCm39)	T284A	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp6v0a4	A	G	6: 38,048,907 (GRCm39)	I452T	probably damaging	Het
Azgp1	G	T	5: 137,985,775 (GRCm39)	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,222,578 (GRCm39)	S667P	unknown	Het
C1qtnf9	T	A	14: 61,009,753 (GRCm39)	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,672,539 (GRCm39)	T199P	unknown	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cass4	A	G	2: 172,268,947 (GRCm39)	D343G	probably damaging	Het
Cenatac	T	C	9: 44,324,790 (GRCm39)	E164G	probably damaging	Het
Col6a3	T	A	1: 90,709,467 (GRCm39)	T2517S	unknown	Het
Dbr1	A	G	9: 99,458,663 (GRCm39)	T78A	probably damaging	Het
Dnah9	A	G	11: 65,880,606 (GRCm39)	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,826,280 (GRCm39)	I431T	probably damaging	Het
Got1	A	G	19: 43,493,078 (GRCm39)	V281A	probably benign	Het
Gpld1	A	C	13: 25,163,964 (GRCm39)	R555S	probably benign	Het
Gpr149	T	C	3: 62,511,256 (GRCm39)	R248G	probably benign	Het
Hps3	G	A	3: 20,076,978 (GRCm39)	R395*	probably null	Het
Inpp5b	T	C	4: 124,689,219 (GRCm39)	L833P	probably damaging	Het
Itgb4	A	T	11: 115,870,557 (GRCm39)	S129C	probably damaging	Het
Kif1a	T	A	1: 92,974,542 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,827,111 (GRCm39)	V205E	probably damaging	Het
Mbd3	T	C	10: 80,231,019 (GRCm39)	N96S	probably damaging	Het
Mcam	T	A	9: 44,048,067 (GRCm39)	C136S	unknown	Het
Mki67	A	G	7: 135,299,155 (GRCm39)	S1960P	probably damaging	Het
Muc6	T	C	7: 141,216,973 (GRCm39)	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Nae1	A	G	8: 105,242,796 (GRCm39)	V432A	probably benign	Het
Nav3	T	G	10: 109,602,851 (GRCm39)	T1233P	probably benign	Het
Nme9	G	A	9: 99,352,910 (GRCm39)	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,613,499 (GRCm39)	I8V	probably benign	Het
Noa1	T	C	5: 77,457,237 (GRCm39)	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269 (GRCm39)	Y8H	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or1j15	T	A	2: 36,458,637 (GRCm39)	V9E	possibly damaging	Het
Or2b4	A	T	17: 38,116,054 (GRCm39)	Q6L	probably benign	Het
Or4n4b	T	C	14: 50,536,698 (GRCm39)	I23V	probably benign	Het
Or4p20	T	C	2: 88,254,270 (GRCm39)	Y33C	probably damaging	Het
Or52h2	T	C	7: 103,839,394 (GRCm39)	S7G	probably benign	Het
Or7g29	C	T	9: 19,286,854 (GRCm39)	A108T	probably benign	Het
Or8c9	T	C	9: 38,241,012 (GRCm39)	V40A	possibly damaging	Het
Otoa	T	A	7: 120,733,267 (GRCm39)	H711Q	probably benign	Het
Otogl	T	A	10: 107,612,981 (GRCm39)	E2048D	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pcdha3	A	G	18: 37,081,219 (GRCm39)	T654A	probably benign	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Ppt1	T	A	4: 122,730,126 (GRCm39)	H26Q	probably benign	Het
Prim1	T	C	10: 127,862,458 (GRCm39)		probably null	Het
Prmt7	G	T	8: 106,963,918 (GRCm39)	A271S	probably benign	Het
Ptprd	T	C	4: 76,047,153 (GRCm39)	D124G	probably benign	Het
Rad54l2	T	C	9: 106,590,777 (GRCm39)	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,451,857 (GRCm39)	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,265,978 (GRCm39)		probably null	Het
Siglecf	A	G	7: 43,001,194 (GRCm39)	Y54C	probably damaging	Het
Stk31	T	A	6: 49,400,340 (GRCm39)	N388K	probably benign	Het
Timm23	A	C	14: 31,920,935 (GRCm39)	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,873,792 (GRCm39)	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,728,843 (GRCm39)	A592E	probably damaging	Het
Trim30d	A	T	7: 104,121,554 (GRCm39)	V397E	probably benign	Het
Tshz1	A	T	18: 84,034,200 (GRCm39)	N69K	probably damaging	Het
Upk2	A	C	9: 44,364,808 (GRCm39)	S130R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,977 (GRCm39)	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,793,749 (GRCm39)	I31T	probably benign	Het
Zfp975	T	C	7: 42,311,848 (GRCm39)	Q255R	probably benign	Het

Other mutations in Mogs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Mogs	APN	6	83,095,558 (GRCm39)	missense	probably damaging	1.00
IGL02314:Mogs	APN	6	83,095,036 (GRCm39)	missense	probably benign	0.00
IGL02673:Mogs	APN	6	83,095,199 (GRCm39)	missense	probably damaging	1.00
IGL02862:Mogs	APN	6	83,092,871 (GRCm39)	missense	probably damaging	1.00
IGL02984:Mogs	UTSW	6	83,094,296 (GRCm39)	missense	probably benign	0.00
R1547:Mogs	UTSW	6	83,093,006 (GRCm39)	missense	possibly damaging	0.93
R1765:Mogs	UTSW	6	83,093,784 (GRCm39)	missense	probably benign	0.00
R2013:Mogs	UTSW	6	83,094,631 (GRCm39)	nonsense	probably null
R2015:Mogs	UTSW	6	83,094,631 (GRCm39)	nonsense	probably null
R3735:Mogs	UTSW	6	83,093,757 (GRCm39)	missense	possibly damaging	0.88
R3736:Mogs	UTSW	6	83,093,757 (GRCm39)	missense	possibly damaging	0.88
R4279:Mogs	UTSW	6	83,093,048 (GRCm39)	missense	probably damaging	1.00
R4585:Mogs	UTSW	6	83,095,619 (GRCm39)	missense	possibly damaging	0.56
R4586:Mogs	UTSW	6	83,095,619 (GRCm39)	missense	possibly damaging	0.56
R5783:Mogs	UTSW	6	83,095,652 (GRCm39)	missense	probably damaging	1.00
R5825:Mogs	UTSW	6	83,095,193 (GRCm39)	missense	possibly damaging	0.72
R6012:Mogs	UTSW	6	83,094,363 (GRCm39)	missense	probably damaging	1.00
R6753:Mogs	UTSW	6	83,092,863 (GRCm39)	missense	probably damaging	1.00
R7157:Mogs	UTSW	6	83,095,488 (GRCm39)	missense	probably benign	0.01
R7381:Mogs	UTSW	6	83,092,613 (GRCm39)	missense	unknown
R7485:Mogs	UTSW	6	83,093,188 (GRCm39)	missense	probably damaging	1.00
R7575:Mogs	UTSW	6	83,092,816 (GRCm39)	missense	probably damaging	1.00
R8162:Mogs	UTSW	6	83,092,863 (GRCm39)	missense	probably damaging	1.00
R8849:Mogs	UTSW	6	83,094,986 (GRCm39)	missense	possibly damaging	0.85
R8961:Mogs	UTSW	6	83,092,720 (GRCm39)	missense	probably benign	0.23
Z1176:Mogs	UTSW	6	83,093,194 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTTCCTTGGTCACCCAG -3'
(R):5'- CCATATCTGTGAGCTGTGGCAG -3'

Sequencing Primer
(F):5'- AGGCCTCAGGTACACCTTC -3'
(R):5'- CCCCGGGTTGGAGGACC -3'

Posted On

2019-11-12