Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02727:Manea'

305270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Manea

Ensembl Gene

ENSMUSG00000040520

Gene Name

mannosidase, endo-alpha

Synonyms

4932703L02Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02727

Quality Score

Status

Chromosome

Chromosomal Location

26324506-26346891 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26328126 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 305 (E305V)

Ref Sequence

ENSEMBL: ENSMUSP00000038671 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000041374
AA Change: E305V

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

SMART Domains

Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: E305V

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: 53,187,565	T13A	probably benign	Het
Aldh1l2	T	A	10: 83,506,605	K447I	probably damaging	Het
Ankrd17	A	G	5: 90,244,292	S1840P	possibly damaging	Het
Ash1l	A	G	3: 89,023,037	I1940M	probably benign	Het
Bfar	T	G	16: 13,688,927		probably null	Het
Bicra	G	T	7: 15,979,465	H937Q	possibly damaging	Het
Brip1	A	T	11: 86,152,736	M334K	probably benign	Het
Camsap2	T	G	1: 136,304,312	M182L	probably benign	Het
Ccdc144b	T	A	3: 36,032,916	R176S	possibly damaging	Het
Chd6	A	T	2: 160,969,463	C1407S	probably damaging	Het
Cmya5	A	G	13: 93,098,245	S112P	possibly damaging	Het
Csmd1	A	T	8: 16,231,327	V728E	probably damaging	Het
Cyp2j6	T	A	4: 96,545,764	Q103L	probably benign	Het
Ddias	A	T	7: 92,866,622	I21K	probably damaging	Het
Derl2	A	C	11: 71,013,210		probably benign	Het
Dgka	A	T	10: 128,722,448		probably benign	Het
Dusp11	T	C	6: 85,961,492	D15G	probably damaging	Het
Enpp2	T	C	15: 54,910,181	D110G	probably damaging	Het
Fkbp11	A	T	15: 98,724,590	V134E	probably damaging	Het
Gm3248	T	C	14: 5,945,036	T49A	probably damaging	Het
Lrmp	T	C	6: 145,174,618	S520P	possibly damaging	Het
Luzp2	T	C	7: 55,172,191		probably benign	Het
Megf6	A	G	4: 154,253,149		probably null	Het
Mrpl3	G	T	9: 105,054,527	D59Y	probably damaging	Het
Myh9	T	C	15: 77,791,742	Y248C	probably benign	Het
Nbeal2	G	A	9: 110,639,285		probably benign	Het
Olfr1386	G	T	11: 49,471,066	G305V	probably benign	Het
Olfr161	T	A	16: 3,593,326	I310K	probably benign	Het
Olfr713	G	T	7: 107,036,695	C180F	probably damaging	Het
Olfr889	A	G	9: 38,116,512	T239A	probably damaging	Het
Pax8	C	A	2: 24,441,630	C147F	probably damaging	Het
Phf12	T	C	11: 78,023,667	V96A	possibly damaging	Het
Psg18	A	T	7: 18,345,950	I442K	probably damaging	Het
Pygl	T	A	12: 70,207,668		probably null	Het
Rassf2	C	A	2: 132,004,387	R150L	probably benign	Het
Rdh7	A	T	10: 127,887,618	W123R	probably damaging	Het
Saal1	T	C	7: 46,689,799		probably null	Het
Sall1	T	C	8: 89,030,755	D907G	probably damaging	Het
Spag1	T	A	15: 36,234,818	F876I	probably damaging	Het
Syncrip	G	A	9: 88,479,879	A61V	probably damaging	Het
Trbv3	A	T	6: 41,048,642	K55N	probably benign	Het
Vmn1r178	A	G	7: 23,894,446		probably null	Het
Vmn2r84	T	C	10: 130,394,126	D39G	possibly damaging	Het

Other mutations in Manea

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00685:Manea	APN	4	26340578	missense	probably damaging	1.00
IGL02066:Manea	APN	4	26340965	utr 5 prime	probably benign
IGL02195:Manea	APN	4	26340628	nonsense	probably null
IGL02527:Manea	APN	4	26336619	critical splice donor site	probably null
IGL02727:Manea	APN	4	26328127	nonsense	probably null
R0099:Manea	UTSW	4	26328104	missense	probably damaging	1.00
R0103:Manea	UTSW	4	26329080	splice site	probably null
R0144:Manea	UTSW	4	26340719	missense	probably benign	0.00
R0839:Manea	UTSW	4	26327983	missense	probably damaging	1.00
R1998:Manea	UTSW	4	26327871	missense	probably damaging	1.00
R1999:Manea	UTSW	4	26327871	missense	probably damaging	1.00
R5022:Manea	UTSW	4	26336630	nonsense	probably null
R6621:Manea	UTSW	4	26340363	unclassified	probably null
R7113:Manea	UTSW	4	26336718	missense	probably damaging	1.00
R7436:Manea	UTSW	4	26328228	missense	probably damaging	1.00
R7553:Manea	UTSW	4	26327986	missense	probably damaging	1.00
R7649:Manea	UTSW	4	26328234	missense	probably damaging	1.00
R7680:Manea	UTSW	4	26340649	missense	probably damaging	1.00
R7690:Manea	UTSW	4	26327910	missense	probably benign	0.41
R7698:Manea	UTSW	4	26327763	missense	probably damaging	1.00

Posted On

2015-04-16