Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Manea'

17704

Institutional Source

Beutler Lab

Gene Symbol

Manea

Ensembl Gene

ENSMUSG00000040520

Gene Name

mannosidase, endo-alpha

Synonyms

4932703L02Rik

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

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

Stock #

R0103 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26324506-26346891 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 26329080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038671 (fasta)

Gene Model

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

AlphaFold

Q6NXH2

Predicted Effect

probably null
Transcript: ENSMUST00000041374

SMART Domains

Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 77.8%
20x: 63.0%

Validation Efficiency

91% (89/98)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,223,951 (GRCm39)	R443S	probably damaging	Het
Adgrl3	A	G	5: 81,940,194 (GRCm39)		probably benign	Het
Anapc1	T	C	2: 128,522,372 (GRCm39)		probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,206,922 (GRCm39)		probably benign	Het
Asah2	G	T	19: 31,996,377 (GRCm39)	H374N	probably benign	Het
Catspere2	A	G	1: 177,943,771 (GRCm39)	N703D	unknown	Het
Ccdc106	C	A	7: 5,060,544 (GRCm39)	Q35K	probably benign	Het
Ccm2l	G	T	2: 152,909,839 (GRCm39)	E64*	probably null	Het
Cep85l	A	T	10: 53,154,270 (GRCm39)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,815,951 (GRCm39)	I611F	possibly damaging	Het
Cldn22	C	T	8: 48,277,589 (GRCm39)	T9M	probably benign	Het
Coa7	T	C	4: 108,195,338 (GRCm39)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,821,701 (GRCm39)	Y2N	probably damaging	Het
Cyp27a1	A	C	1: 74,775,074 (GRCm39)	E301A	probably benign	Het
Dennd4c	A	G	4: 86,730,683 (GRCm39)	Y860C	probably benign	Het
Dhx58	T	C	11: 100,586,096 (GRCm39)	T642A	probably damaging	Het
Dlg4	A	G	11: 69,922,019 (GRCm39)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,069,155 (GRCm39)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,443,717 (GRCm39)	E9*	probably null	Het
Fbln2	A	C	6: 91,248,532 (GRCm39)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,192,381 (GRCm39)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm39)	I17K	probably damaging	Het
Gbp7	T	A	3: 142,252,299 (GRCm39)	N627K	probably benign	Het
Gnptab	A	G	10: 88,265,381 (GRCm39)	Y331C	probably damaging	Het
Hibadh	T	A	6: 52,534,862 (GRCm39)	M173L	probably benign	Het
Itga1	T	C	13: 115,152,790 (GRCm39)	I211V	probably benign	Het
Keg1	A	T	19: 12,696,280 (GRCm39)	I155F	possibly damaging	Het
Ltb	A	G	17: 35,414,016 (GRCm39)		probably benign	Het
Ms4a4a	T	A	19: 11,370,048 (GRCm39)	M202K	possibly damaging	Het
Myo3a	T	G	2: 22,436,360 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,776,493 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ncor1	G	T	11: 62,233,871 (GRCm39)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,471,980 (GRCm39)	C53*	probably null	Het
Obscn	G	T	11: 58,953,522 (GRCm39)	Y4044*	probably null	Het
Pcsk6	T	C	7: 65,578,845 (GRCm39)		probably benign	Het
Phax	T	A	18: 56,695,785 (GRCm39)	V7D	probably benign	Het
Phxr4	T	C	9: 13,343,087 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,593,583 (GRCm39)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,460,537 (GRCm39)	C4249R	probably benign	Het
Prpf39	T	C	12: 65,102,057 (GRCm39)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,137,770 (GRCm39)	N455S	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rad9b	A	T	5: 122,469,590 (GRCm39)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,076,212 (GRCm39)		probably benign	Het
Rhoc	A	T	3: 104,699,307 (GRCm39)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,199,743 (GRCm39)	V925G	probably damaging	Het
Slc25a32	A	T	15: 38,963,292 (GRCm39)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,289,236 (GRCm39)	K4*	probably null	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taar4	A	T	10: 23,837,304 (GRCm39)	N305Y	probably damaging	Het
Tcaf1	G	T	6: 42,663,324 (GRCm39)	D185E	probably benign	Het
Tmem138	T	C	19: 10,552,316 (GRCm39)	N62S	possibly damaging	Het
Tnfrsf25	C	T	4: 152,201,405 (GRCm39)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,067,240 (GRCm39)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,184,805 (GRCm39)	F597S	probably damaging	Het
Ugt2a3	A	G	5: 87,484,577 (GRCm39)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,051,267 (GRCm39)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,417,108 (GRCm39)	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,567,908 (GRCm39)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,808,375 (GRCm39)	W274*	probably null	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	26,328,127 (GRCm39)	nonsense	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
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

2013-01-31