Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01823:Man2a1'

154602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Man2a1

Ensembl Gene

ENSMUSG00000024085

Gene Name

mannosidase 2, alpha 1

Synonyms

Map-2, Mana-2, Mana2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

IGL01823

Quality Score

Status

Chromosome

Chromosomal Location

64907731-65062105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64973819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 365 (I365T)

Ref Sequence

ENSEMBL: ENSMUSP00000083928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086723]

AlphaFold

P27046

Predicted Effect

probably damaging
Transcript: ENSMUST00000086723
AA Change: I365T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: I365T

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
coiled coil region	45	74	N/A	INTRINSIC
Pfam:Glyco_hydro_38	166	496	2.3e-111	PFAM
Alpha-mann_mid	501	587	5.39e-34	SMART
Pfam:Glyco_hydro_38C	648	1144	1.5e-98	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria, [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp6	A	G	13: 38,682,798 (GRCm39)	T460A	probably damaging	Het
Cd209a	T	C	8: 3,798,851 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,212,391 (GRCm39)	L1250P	probably damaging	Het
Evc	T	C	5: 37,485,865 (GRCm39)	N104D	probably damaging	Het
Fam161a	A	T	11: 22,965,785 (GRCm39)	E26V	probably damaging	Het
Foxa3	T	C	7: 18,748,443 (GRCm39)	T228A	probably benign	Het
Gm8206	A	T	14: 6,017,078 (GRCm38)	D133E	probably benign	Het
Ighv1-15	T	A	12: 114,621,212 (GRCm39)	T38S	probably benign	Het
Ikzf1	A	G	11: 11,719,091 (GRCm39)	D266G	possibly damaging	Het
Mcm4	T	C	16: 15,443,995 (GRCm39)	D756G	probably damaging	Het
Mroh9	G	A	1: 162,883,178 (GRCm39)	L434F	probably benign	Het
Or13p4	A	G	4: 118,546,918 (GRCm39)	C244R	probably damaging	Het
Or14c45	T	C	7: 86,176,249 (GRCm39)	C95R	probably damaging	Het
Phldb2	T	A	16: 45,645,507 (GRCm39)	Y313F	probably damaging	Het
Psd4	A	G	2: 24,284,444 (GRCm39)	S103G	probably benign	Het
Ripk4	T	C	16: 97,556,483 (GRCm39)	I87V	possibly damaging	Het
Scn9a	A	T	2: 66,314,386 (GRCm39)	F1766L	probably damaging	Het
Slc10a5	A	T	3: 10,399,574 (GRCm39)	V362D	possibly damaging	Het
Slc12a3	A	G	8: 95,083,724 (GRCm39)	D917G	probably benign	Het
Slc30a4	A	G	2: 122,544,012 (GRCm39)	V110A	probably damaging	Het
Slc30a8	A	G	15: 52,159,358 (GRCm39)		probably benign	Het
Slc5a8	T	A	10: 88,755,334 (GRCm39)	C480*	probably null	Het
Tmppe	A	G	9: 114,234,175 (GRCm39)	K158R	probably benign	Het
Tubb6	A	G	18: 67,535,343 (GRCm39)	N414S	probably damaging	Het
Wnt8a	A	T	18: 34,677,846 (GRCm39)	T85S	possibly damaging	Het

Other mutations in Man2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Man2a1	APN	17	65,017,700 (GRCm39)	missense	probably benign	0.00
IGL02012:Man2a1	APN	17	64,973,894 (GRCm39)	missense	probably damaging	0.98
IGL02589:Man2a1	APN	17	64,986,773 (GRCm39)	missense	probably benign	0.01
IGL03248:Man2a1	APN	17	65,020,606 (GRCm39)	missense	probably damaging	1.00
R0070:Man2a1	UTSW	17	64,966,074 (GRCm39)	splice site	probably null
R0092:Man2a1	UTSW	17	64,966,079 (GRCm39)	splice site	probably benign
R1347:Man2a1	UTSW	17	65,019,445 (GRCm39)	missense	probably damaging	0.98
R1347:Man2a1	UTSW	17	65,019,445 (GRCm39)	missense	probably damaging	0.98
R1376:Man2a1	UTSW	17	64,979,038 (GRCm39)	missense	possibly damaging	0.50
R1376:Man2a1	UTSW	17	64,979,038 (GRCm39)	missense	possibly damaging	0.50
R1599:Man2a1	UTSW	17	64,986,826 (GRCm39)	missense	possibly damaging	0.80
R1799:Man2a1	UTSW	17	65,059,452 (GRCm39)	missense	probably benign	0.12
R1799:Man2a1	UTSW	17	64,976,492 (GRCm39)	missense	probably damaging	1.00
R1822:Man2a1	UTSW	17	65,047,837 (GRCm39)	missense	probably damaging	1.00
R1958:Man2a1	UTSW	17	65,057,830 (GRCm39)	missense	probably benign	0.00
R2852:Man2a1	UTSW	17	65,020,596 (GRCm39)	missense	probably benign	0.00
R4324:Man2a1	UTSW	17	64,973,788 (GRCm39)	missense	probably benign	0.00
R4582:Man2a1	UTSW	17	65,059,494 (GRCm39)	missense	probably benign	0.00
R4610:Man2a1	UTSW	17	65,019,454 (GRCm39)	missense	probably benign
R4803:Man2a1	UTSW	17	64,966,004 (GRCm39)	missense	probably damaging	1.00
R5072:Man2a1	UTSW	17	64,966,074 (GRCm39)	splice site	probably null
R5109:Man2a1	UTSW	17	65,059,443 (GRCm39)	missense	probably benign	0.31
R5223:Man2a1	UTSW	17	65,019,266 (GRCm39)	missense	probably benign	0.17
R5229:Man2a1	UTSW	17	65,017,729 (GRCm39)	missense	probably benign	0.00
R5238:Man2a1	UTSW	17	64,943,502 (GRCm39)	missense	probably damaging	1.00
R5273:Man2a1	UTSW	17	65,040,780 (GRCm39)	missense	probably damaging	1.00
R5289:Man2a1	UTSW	17	64,958,222 (GRCm39)	missense	probably damaging	0.99
R5352:Man2a1	UTSW	17	65,038,241 (GRCm39)	missense	probably damaging	1.00
R5428:Man2a1	UTSW	17	65,019,295 (GRCm39)	missense	probably benign	0.00
R5898:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R5942:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R5943:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R5963:Man2a1	UTSW	17	64,982,117 (GRCm39)	missense	probably benign
R5969:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R5970:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R6164:Man2a1	UTSW	17	65,040,719 (GRCm39)	missense	possibly damaging	0.87
R6207:Man2a1	UTSW	17	65,020,600 (GRCm39)	missense	probably benign	0.02
R6245:Man2a1	UTSW	17	65,017,821 (GRCm39)	missense	probably damaging	0.97
R6724:Man2a1	UTSW	17	65,038,264 (GRCm39)	missense	possibly damaging	0.91
R6759:Man2a1	UTSW	17	64,932,383 (GRCm39)	missense	probably benign	0.00
R6778:Man2a1	UTSW	17	65,021,630 (GRCm39)	missense	possibly damaging	0.69
R7250:Man2a1	UTSW	17	64,943,583 (GRCm39)	missense	probably benign	0.00
R7354:Man2a1	UTSW	17	65,059,539 (GRCm39)	missense	probably damaging	1.00
R7833:Man2a1	UTSW	17	64,973,746 (GRCm39)	missense	probably damaging	0.99
R7991:Man2a1	UTSW	17	64,908,771 (GRCm39)	missense	probably benign	0.28
R8489:Man2a1	UTSW	17	64,908,765 (GRCm39)	missense	possibly damaging	0.64
R8540:Man2a1	UTSW	17	64,965,982 (GRCm39)	missense	probably benign
R8894:Man2a1	UTSW	17	65,020,596 (GRCm39)	missense	probably benign	0.00
R9447:Man2a1	UTSW	17	64,966,001 (GRCm39)	missense	possibly damaging	0.88
R9488:Man2a1	UTSW	17	65,040,734 (GRCm39)	missense	possibly damaging	0.80
R9526:Man2a1	UTSW	17	64,958,310 (GRCm39)	missense	probably benign	0.23
R9608:Man2a1	UTSW	17	65,041,953 (GRCm39)	missense	probably damaging	1.00
R9666:Man2a1	UTSW	17	64,943,557 (GRCm39)	missense	possibly damaging	0.78
RF007:Man2a1	UTSW	17	65,019,248 (GRCm39)	missense	probably damaging	0.98
Z1177:Man2a1	UTSW	17	65,042,049 (GRCm39)	missense	probably benign
Z1177:Man2a1	UTSW	17	64,966,015 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04