Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02012:Man2a1'

183403

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 #

IGL02012

Quality Score

Status

Chromosome

Chromosomal Location

64907731-65062105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64973894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 390 (I390T)

Ref Sequence

ENSEMBL: ENSMUSP00000083928 (fasta)

Gene Model

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

AlphaFold

P27046

Predicted Effect

probably damaging
Transcript: ENSMUST00000086723
AA Change: I390T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: I390T

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,651,820 (GRCm39)	N1296S	probably damaging	Het
Adprh	A	T	16: 38,266,214 (GRCm39)	D309E	possibly damaging	Het
Armc1	A	T	3: 19,211,701 (GRCm39)	C40S	possibly damaging	Het
Cops8	T	C	1: 90,539,956 (GRCm39)	V204A	probably damaging	Het
Cstdc5	T	G	16: 36,187,802 (GRCm39)	D21A	possibly damaging	Het
Dchs1	T	G	7: 105,413,504 (GRCm39)	T1104P	probably damaging	Het
Ddi2	A	T	4: 141,435,529 (GRCm39)		probably null	Het
Ehbp1	G	A	11: 22,051,218 (GRCm39)	P420S	probably damaging	Het
Eif1ad	T	G	19: 5,418,687 (GRCm39)	V80G	probably damaging	Het
Fat1	T	C	8: 45,480,577 (GRCm39)	Y3004H	possibly damaging	Het
Fbxo11	C	T	17: 88,320,079 (GRCm39)	R211Q	probably benign	Het
Foxf2	A	G	13: 31,810,499 (GRCm39)	N146S	probably damaging	Het
Fsd2	A	T	7: 81,199,662 (GRCm39)	N334K	probably benign	Het
Gm45234	C	A	6: 124,723,011 (GRCm39)		probably benign	Het
Itpr3	T	A	17: 27,323,069 (GRCm39)	F1157I	probably benign	Het
Jph1	C	A	1: 17,167,638 (GRCm39)	W64L	probably benign	Het
Lmo7	T	C	14: 102,126,152 (GRCm39)		probably benign	Het
Marveld3	C	T	8: 110,674,764 (GRCm39)	V351M	probably damaging	Het
Minar1	T	C	9: 89,483,491 (GRCm39)	I635M	probably benign	Het
Mycn	A	G	12: 12,987,104 (GRCm39)	L431P	probably damaging	Het
Naip5	T	C	13: 100,359,847 (GRCm39)	N463S	probably benign	Het
Npnt	A	G	3: 132,614,158 (GRCm39)	C182R	probably damaging	Het
Obscn	A	G	11: 58,967,333 (GRCm39)	V3068A	probably benign	Het
Pggt1b	A	T	18: 46,396,022 (GRCm39)	S88T	probably benign	Het
Prx	A	G	7: 27,217,326 (GRCm39)	E748G	probably damaging	Het
Scrn3	T	C	2: 73,148,773 (GRCm39)		probably null	Het
Trmt10b	G	A	4: 45,315,045 (GRCm39)	R292H	probably benign	Het
Tuft1	A	G	3: 94,529,462 (GRCm39)		probably benign	Het
Wfdc8	T	C	2: 164,445,070 (GRCm39)		probably benign	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
IGL01823:Man2a1	APN	17	64,973,819 (GRCm39)	missense	probably damaging	0.99
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

2014-05-07