Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Mogs'

530888

Institutional Source

Beutler Lab

Gene Symbol

Mogs

Ensembl Gene

ENSMUSG00000030036

Gene Name

mannosyl-oligosaccharide glucosidase

Synonyms

1810017N02Rik, Gcs1

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83092477-83095879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83092863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 101 (V101A)

Ref Sequence

ENSEMBL: ENSMUSP00000032114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032111] [ENSMUST00000032114] [ENSMUST00000113936] [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 damaging
Transcript: ENSMUST00000032114
AA Change: V101A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036
AA Change: V101A

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: 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

noncoding transcript
Transcript: ENSMUST00000123394

Predicted Effect

probably benign
Transcript: ENSMUST00000131936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142493

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

noncoding transcript
Transcript: ENSMUST00000145403

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,900,977 (GRCm39)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,908,641 (GRCm39)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Agk	T	A	6: 40,345,504 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,777,603 (GRCm39)	M586K	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Armc1	A	G	3: 19,198,562 (GRCm39)	F133L	possibly damaging	Het
Bank1	T	C	3: 135,799,069 (GRCm39)	E424G	probably damaging	Het
Cacna1a	A	G	8: 85,306,834 (GRCm39)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 29,764,743 (GRCm39)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,821,869 (GRCm39)	L606*	probably null	Het
Ccdc8	C	T	7: 16,730,562 (GRCm39)	Q684*	probably null	Het
Ces1b	T	A	8: 93,793,648 (GRCm39)	K314*	probably null	Het
Ces1e	T	A	8: 93,941,756 (GRCm39)	N238I	probably damaging	Het
Chd4	A	G	6: 125,091,263 (GRCm39)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,949,611 (GRCm39)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,787,196 (GRCm39)	T559I	unknown	Het
Comt	T	C	16: 18,226,771 (GRCm39)	K205R	probably benign	Het
Dbp	A	T	7: 45,357,828 (GRCm39)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,276,493 (GRCm39)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,704,987 (GRCm39)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,128,732 (GRCm39)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,711,186 (GRCm39)	I86N	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,889,503 (GRCm39)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,014,254 (GRCm39)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,924,854 (GRCm39)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 81,947,054 (GRCm39)	D385G	probably null	Het
Ints1	T	A	5: 139,750,930 (GRCm39)	E824D	probably damaging	Het
Itfg1	T	C	8: 86,561,707 (GRCm39)	D142G	probably benign	Het
Jaml	A	G	9: 45,018,677 (GRCm39)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,680,721 (GRCm39)	I289L	probably benign	Het
Klf12	G	A	14: 100,347,212 (GRCm39)	Q40*	probably null	Het
Mcm4	A	C	16: 15,447,226 (GRCm39)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,917,358 (GRCm39)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,764,208 (GRCm39)	V86M	probably damaging	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otog	A	C	7: 45,898,495 (GRCm39)	E204D	probably benign	Het
Parp8	G	A	13: 117,031,651 (GRCm39)	H354Y	possibly damaging	Het
Pcnx1	C	A	12: 82,011,254 (GRCm39)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 110,351,081 (GRCm39)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,453,059 (GRCm39)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,765,218 (GRCm39)	Y521N	probably benign	Het
Prex2	A	G	1: 11,254,680 (GRCm39)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,638,153 (GRCm39)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,542,848 (GRCm39)	A167V	probably benign	Het
Rims2	A	G	15: 39,430,369 (GRCm39)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,934,611 (GRCm39)	M253K	probably benign	Het
Ryr3	T	C	2: 112,482,955 (GRCm39)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,660,732 (GRCm39)		probably benign	Het
Son	A	G	16: 91,454,076 (GRCm39)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,797,813 (GRCm39)	R1880L	probably benign	Het
Sun1	G	A	5: 139,201,014 (GRCm39)		probably null	Het
Tprn	A	G	2: 25,154,050 (GRCm39)	R451G	probably benign	Het
Trbv30	T	A	6: 41,258,311 (GRCm39)	M1K	probably null	Het
Ttn	C	A	2: 76,568,565 (GRCm39)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,442,353 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm39)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,514,775 (GRCm39)	M687V	probably benign	Het
Zfp160	G	A	17: 21,240,996 (GRCm39)	M21I	probably benign	Het
Zfp868	T	C	8: 70,064,747 (GRCm39)	N196S	probably benign	Het
Zup1	A	T	10: 33,804,025 (GRCm39)	I483N	probably damaging	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
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
R7659:Mogs	UTSW	6	83,093,806 (GRCm39)	critical splice donor site	probably null
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'- GACGTGAAAGCGGGATTTC -3'
(R):5'- ATCGTGGATATGCTGCCGAC -3'

Sequencing Primer
(F):5'- AAGGCTCGGTCCGCTGAC -3'
(R):5'- TCACACGTGTGCCTGAGCTTAG -3'

Posted On

2018-08-01