Mutagenetix > Incidental Mutation

Incidental Mutation 'R7690:Manea'

593323

Institutional Source

Beutler Lab

Gene Symbol

Manea

Ensembl Gene

ENSMUSG00000040520

Gene Name

mannosidase, endo-alpha

Synonyms

4932703L02Rik

MMRRC Submission

045754-MU

Accession Numbers

Essential gene?

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

Stock #

R7690 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26324506-26346891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26327910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 377 (V377A)

Ref Sequence

ENSEMBL: ENSMUSP00000038671 (fasta)

Gene Model

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

AlphaFold

Q6NXH2

Predicted Effect

probably benign
Transcript: ENSMUST00000041374
AA Change: V377A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: V377A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,353,313 (GRCm39)	T710S	probably benign	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Agap1	T	C	1: 89,770,793 (GRCm39)	S648P	probably benign	Het
Alox5	T	C	6: 116,392,417 (GRCm39)	H368R	probably damaging	Het
Ano2	T	C	6: 125,990,161 (GRCm39)	F761L	probably damaging	Het
Aox4	T	C	1: 58,303,076 (GRCm39)	V1169A	probably damaging	Het
Apbb1ip	T	A	2: 22,706,996 (GRCm39)	M11K	unknown	Het
Arl5a	G	T	2: 52,302,077 (GRCm39)	H112Q	possibly damaging	Het
Ccdc18	C	T	5: 108,376,528 (GRCm39)	T1323I	probably benign	Het
Cmtm5	G	A	14: 55,173,938 (GRCm39)		probably benign	Het
Cul2	T	C	18: 3,419,420 (GRCm39)	Y194H	probably benign	Het
Daglb	T	C	5: 143,479,938 (GRCm39)	I415T	possibly damaging	Het
Ddx28	A	G	8: 106,736,963 (GRCm39)	V365A	probably damaging	Het
Dnah6	T	C	6: 73,146,063 (GRCm39)		probably null	Het
Eppk1	T	A	15: 75,995,946 (GRCm39)	T312S	probably benign	Het
Erich4	C	A	7: 25,314,710 (GRCm39)	V68L	possibly damaging	Het
Fam171a2	G	A	11: 102,328,660 (GRCm39)	P700S	probably benign	Het
Fat3	T	C	9: 15,909,477 (GRCm39)	N2175S	probably damaging	Het
Fcrl6	T	G	1: 172,426,223 (GRCm39)	R191S	probably damaging	Het
Fpgt	A	G	3: 154,793,467 (GRCm39)	S187P	probably damaging	Het
Gapvd1	T	G	2: 34,619,134 (GRCm39)	T80P	possibly damaging	Het
Gclm	A	G	3: 122,039,705 (GRCm39)	N24S	probably damaging	Het
Gdf15	A	G	8: 71,083,997 (GRCm39)	I89T	possibly damaging	Het
Gpn2	A	G	4: 133,318,693 (GRCm39)	E306G	probably damaging	Het
Iars2	A	T	1: 185,053,194 (GRCm39)	L359Q	probably damaging	Het
Kbtbd4	T	G	2: 90,736,240 (GRCm39)	C84G	possibly damaging	Het
Map4	C	T	9: 109,828,861 (GRCm39)	T82I	probably damaging	Het
Mocos	C	T	18: 24,797,082 (GRCm39)	H81Y	probably damaging	Het
Mtx1	T	A	3: 89,120,088 (GRCm39)	T87S		Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myom2	A	T	8: 15,161,717 (GRCm39)		probably null	Het
Mzt1	C	T	14: 99,278,024 (GRCm39)	C48Y	probably damaging	Het
Nlrp9b	C	A	7: 19,758,295 (GRCm39)	P511T	probably benign	Het
Noc2l	A	G	4: 156,322,088 (GRCm39)	E135G	probably benign	Het
Nova1	G	A	12: 46,767,549 (GRCm39)	P124L	unknown	Het
Pax8	T	A	2: 24,331,682 (GRCm39)	T134S	probably benign	Het
Pde4a	T	A	9: 21,077,300 (GRCm39)	L26Q	probably damaging	Het
Pde6b	G	A	5: 108,567,384 (GRCm39)	E254K	probably damaging	Het
Pdlim7	A	G	13: 55,656,744 (GRCm39)	I70T	probably damaging	Het
Pinx1	T	A	14: 64,101,660 (GRCm39)		probably null	Het
Pomt2	C	A	12: 87,177,141 (GRCm39)	R352L	probably damaging	Het
Rapgef5	G	A	12: 117,685,105 (GRCm39)	V519I	possibly damaging	Het
Rnps1	A	G	17: 24,637,168 (GRCm39)	E16G	unknown	Het
Slc4a5	T	C	6: 83,262,854 (GRCm39)	F782S	probably damaging	Het
Snap91	A	G	9: 86,707,031 (GRCm39)	V253A	possibly damaging	Het
Syce3	T	C	15: 89,281,544 (GRCm39)	M32V	possibly damaging	Het
Tcaf3	C	A	6: 42,574,069 (GRCm39)	V48L	probably damaging	Het
Tenm4	T	C	7: 96,512,740 (GRCm39)	V1366A	probably benign	Het
Tnxb	G	A	17: 34,908,494 (GRCm39)	M1382I	probably benign	Het
Tnxb	G	A	17: 34,908,501 (GRCm39)	G1385R	probably damaging	Het
Top3a	G	T	11: 60,647,206 (GRCm39)	L238I	probably damaging	Het
Trim9	A	T	12: 70,295,117 (GRCm39)	N742K	probably benign	Het
Trp63	T	A	16: 25,695,483 (GRCm39)	Y482N	unknown	Het
Ttc23	T	G	7: 67,319,918 (GRCm39)	F192V	possibly damaging	Het
Uck1	A	G	2: 32,148,184 (GRCm39)	V180A	probably benign	Het
Vwa5b1	G	A	4: 138,318,244 (GRCm39)	T541I	probably damaging	Het
Zfp456	G	T	13: 67,514,913 (GRCm39)	H264Q	probably damaging	Het
Zfpm2	T	G	15: 40,818,162 (GRCm39)	V165G	possibly damaging	Het
Zup1	C	T	10: 33,806,151 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGACCACTTTCGAGTTAGTTC -3'
(R):5'- TCGCAGTTCTCCTTATGATGG -3'

Sequencing Primer
(F):5'- TCTAGATAAAGACTTGGCTTATGAGG -3'
(R):5'- CCTTATGATGGATTGTTTATTGCAC -3'

Posted On

2019-11-12