Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02727:Manea'

305271

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Manea

Ensembl Gene

ENSMUSG00000040520

Gene Name

mannosidase, endo-alpha

Synonyms

4932703L02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02727

Quality Score

Status

Chromosome

Chromosomal Location

26324506-26346891 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 26328127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 305 (E305*)

Ref Sequence

ENSEMBL: ENSMUSP00000038671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041374]

AlphaFold

Q6NXH2

Predicted Effect

probably null
Transcript: ENSMUST00000041374
AA Change: E305*

SMART Domains

Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: E305*

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Glyco_hydro_99	98	448	3.2e-192	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133105

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,226,724 (GRCm39)	T13A	probably benign	Het
Aldh1l2	T	A	10: 83,342,469 (GRCm39)	K447I	probably damaging	Het
Ankrd17	A	G	5: 90,392,151 (GRCm39)	S1840P	possibly damaging	Het
Ash1l	A	G	3: 88,930,344 (GRCm39)	I1940M	probably benign	Het
Bfar	T	G	16: 13,506,791 (GRCm39)		probably null	Het
Bicra	G	T	7: 15,713,390 (GRCm39)	H937Q	possibly damaging	Het
Brip1	A	T	11: 86,043,562 (GRCm39)	M334K	probably benign	Het
Camsap2	T	G	1: 136,232,050 (GRCm39)	M182L	probably benign	Het
Chd6	A	T	2: 160,811,383 (GRCm39)	C1407S	probably damaging	Het
Cmya5	A	G	13: 93,234,753 (GRCm39)	S112P	possibly damaging	Het
Csmd1	A	T	8: 16,281,341 (GRCm39)	V728E	probably damaging	Het
Cyp2j6	T	A	4: 96,434,001 (GRCm39)	Q103L	probably benign	Het
Ddias	A	T	7: 92,515,830 (GRCm39)	I21K	probably damaging	Het
Derl2	A	C	11: 70,904,036 (GRCm39)		probably benign	Het
Dgka	A	T	10: 128,558,317 (GRCm39)		probably benign	Het
Dusp11	T	C	6: 85,938,474 (GRCm39)	D15G	probably damaging	Het
Enpp2	T	C	15: 54,773,577 (GRCm39)	D110G	probably damaging	Het
Fkbp11	A	T	15: 98,622,471 (GRCm39)	V134E	probably damaging	Het
Gm3248	T	C	14: 5,945,036 (GRCm38)	T49A	probably damaging	Het
Gm57858	T	A	3: 36,087,065 (GRCm39)	R176S	possibly damaging	Het
Irag2	T	C	6: 145,120,344 (GRCm39)	S520P	possibly damaging	Het
Luzp2	T	C	7: 54,821,939 (GRCm39)		probably benign	Het
Megf6	A	G	4: 154,337,606 (GRCm39)		probably null	Het
Mrpl3	G	T	9: 104,931,726 (GRCm39)	D59Y	probably damaging	Het
Myh9	T	C	15: 77,675,942 (GRCm39)	Y248C	probably benign	Het
Nbeal2	G	A	9: 110,468,353 (GRCm39)		probably benign	Het
Or10a5	G	T	7: 106,635,902 (GRCm39)	C180F	probably damaging	Het
Or1f19	T	A	16: 3,411,190 (GRCm39)	I310K	probably benign	Het
Or2y1c	G	T	11: 49,361,893 (GRCm39)	G305V	probably benign	Het
Or8b40	A	G	9: 38,027,808 (GRCm39)	T239A	probably damaging	Het
Pax8	C	A	2: 24,331,642 (GRCm39)	C147F	probably damaging	Het
Phf12	T	C	11: 77,914,493 (GRCm39)	V96A	possibly damaging	Het
Psg18	A	T	7: 18,079,875 (GRCm39)	I442K	probably damaging	Het
Pygl	T	A	12: 70,254,442 (GRCm39)		probably null	Het
Rassf2	C	A	2: 131,846,307 (GRCm39)	R150L	probably benign	Het
Rdh7	A	T	10: 127,723,487 (GRCm39)	W123R	probably damaging	Het
Saal1	T	C	7: 46,339,223 (GRCm39)		probably null	Het
Sall1	T	C	8: 89,757,383 (GRCm39)	D907G	probably damaging	Het
Spag1	T	A	15: 36,234,964 (GRCm39)	F876I	probably damaging	Het
Syncrip	G	A	9: 88,361,932 (GRCm39)	A61V	probably damaging	Het
Trbv3	A	T	6: 41,025,576 (GRCm39)	K55N	probably benign	Het
Vmn1r178	A	G	7: 23,593,871 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,229,995 (GRCm39)	D39G	possibly damaging	Het

Other mutations in Manea

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00685:Manea	APN	4	26,340,578 (GRCm39)	missense	probably damaging	1.00
IGL02066:Manea	APN	4	26,340,965 (GRCm39)	utr 5 prime	probably benign
IGL02195:Manea	APN	4	26,340,628 (GRCm39)	nonsense	probably null
IGL02527:Manea	APN	4	26,336,619 (GRCm39)	critical splice donor site	probably null
IGL02727:Manea	APN	4	26,328,126 (GRCm39)	missense	probably damaging	1.00
R0099:Manea	UTSW	4	26,328,104 (GRCm39)	missense	probably damaging	1.00
R0103:Manea	UTSW	4	26,329,080 (GRCm39)	splice site	probably null
R0144:Manea	UTSW	4	26,340,719 (GRCm39)	missense	probably benign	0.00
R0839:Manea	UTSW	4	26,327,983 (GRCm39)	missense	probably damaging	1.00
R1998:Manea	UTSW	4	26,327,871 (GRCm39)	missense	probably damaging	1.00
R1999:Manea	UTSW	4	26,327,871 (GRCm39)	missense	probably damaging	1.00
R5022:Manea	UTSW	4	26,336,630 (GRCm39)	nonsense	probably null
R6621:Manea	UTSW	4	26,340,363 (GRCm39)	splice site	probably null
R7113:Manea	UTSW	4	26,336,718 (GRCm39)	missense	probably damaging	1.00
R7436:Manea	UTSW	4	26,328,228 (GRCm39)	missense	probably damaging	1.00
R7553:Manea	UTSW	4	26,327,986 (GRCm39)	missense	probably damaging	1.00
R7649:Manea	UTSW	4	26,328,234 (GRCm39)	missense	probably damaging	1.00
R7680:Manea	UTSW	4	26,340,649 (GRCm39)	missense	probably damaging	1.00
R7690:Manea	UTSW	4	26,327,910 (GRCm39)	missense	probably benign	0.41
R7698:Manea	UTSW	4	26,327,763 (GRCm39)	missense	probably damaging	1.00
R7699:Manea	UTSW	4	26,340,758 (GRCm39)	missense	probably benign	0.03
R9568:Manea	UTSW	4	26,340,468 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16