Mutagenetix > Incidental Mutation

Incidental Mutation 'R7699:Manea'

647855

Institutional Source

Beutler Lab

Gene Symbol

Manea

Ensembl Gene

ENSMUSG00000040520

Gene Name

mannosidase, endo-alpha

Synonyms

4932703L02Rik

MMRRC Submission

045760-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7699 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26324506-26346891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26340758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 68 (N68T)

Ref Sequence

ENSEMBL: ENSMUSP00000038671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041374] [ENSMUST00000153813]

AlphaFold

Q6NXH2

Predicted Effect

probably benign
Transcript: ENSMUST00000041374
AA Change: N68T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: N68T

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

probably benign
Transcript: ENSMUST00000153813
AA Change: N68T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115791
Gene: ENSMUSG00000040520
AA Change: N68T

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,070,792 (GRCm39)	P638T	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,319,674 (GRCm39)	I1404N	probably damaging	Het
Cdc42se1	A	G	3: 95,139,908 (GRCm39)	N35D	probably damaging	Het
Cep290	A	G	10: 100,376,231 (GRCm39)	S1447G	probably benign	Het
Chd6	T	A	2: 160,867,863 (GRCm39)	H436L	probably benign	Het
Cnbd2	T	C	2: 156,217,326 (GRCm39)	V605A	probably benign	Het
Col22a1	T	A	15: 71,845,700 (GRCm39)	D354V	probably damaging	Het
Col25a1	T	A	3: 130,316,128 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,514,734 (GRCm39)	M1L	possibly damaging	Het
Cux1	A	T	5: 136,514,593 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,335 (GRCm39)	S226T	unknown	Het
Cyp4b1	T	C	4: 115,499,162 (GRCm39)	D68G	probably benign	Het
Dicer1	A	C	12: 104,671,429 (GRCm39)	L947R	probably damaging	Het
Dmp1	T	C	5: 104,359,590 (GRCm39)	S89P	probably damaging	Het
Dpf1	A	G	7: 29,011,032 (GRCm39)	K144E	possibly damaging	Het
Emc1	T	A	4: 139,082,181 (GRCm39)	H94Q	probably benign	Het
Ep300	C	T	15: 81,470,594 (GRCm39)		probably benign	Het
Epha10	T	C	4: 124,796,440 (GRCm39)	I383T		Het
Epo	T	A	5: 137,483,438 (GRCm39)	E5D	probably benign	Het
Esp15	G	A	17: 39,955,624 (GRCm39)	V64I	possibly damaging	Het
Fbxl18	A	T	5: 142,871,504 (GRCm39)	V577E	probably damaging	Het
Fhl4	A	T	10: 84,934,113 (GRCm39)	C223S	probably damaging	Het
Fhl4	A	T	10: 84,934,379 (GRCm39)	I134N	probably benign	Het
Frmpd2	G	T	14: 33,264,895 (GRCm39)	M891I	probably benign	Het
Gk2	T	C	5: 97,604,257 (GRCm39)	I194V	probably benign	Het
Glt8d2	A	C	10: 82,498,122 (GRCm39)		probably null	Het
Gm12886	G	C	4: 121,273,876 (GRCm39)	H113Q	possibly damaging	Het
Hycc1	A	G	5: 24,120,494 (GRCm39)	S345P	probably damaging	Het
Ighv1-36	A	T	12: 114,843,646 (GRCm39)	Y71*	probably null	Het
Il18bp	A	G	7: 101,666,029 (GRCm39)	W50R	probably damaging	Het
Jmjd1c	T	A	10: 67,054,195 (GRCm39)	I33K	probably benign	Het
Lama5	C	T	2: 179,822,654 (GRCm39)	A2833T	probably damaging	Het
Map1a	T	C	2: 121,130,201 (GRCm39)	L339P	probably damaging	Het
Mblac1	A	C	5: 138,192,919 (GRCm39)	D87A	probably damaging	Het
Mmp24	C	T	2: 155,640,096 (GRCm39)	T142I	probably damaging	Het
Mpp2	T	A	11: 101,950,261 (GRCm39)	H531L	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mx1	T	A	16: 97,249,521 (GRCm39)	I339F	unknown	Het
Naip2	G	A	13: 100,296,877 (GRCm39)	T1053I	probably benign	Het
Nckap1l	A	G	15: 103,371,248 (GRCm39)		probably null	Het
Or51f23c-ps1	A	G	7: 102,431,529 (GRCm39)	Y282C	possibly damaging	Het
Or5an1b	T	C	19: 12,299,841 (GRCm39)	T117A	probably benign	Het
Otud7b	T	C	3: 96,063,280 (GRCm39)	F840L	probably damaging	Het
Pdzd8	T	C	19: 59,333,373 (GRCm39)	Y216C	probably damaging	Het
Pkd1l1	T	A	11: 8,915,142 (GRCm39)	I133F		Het
Plaur	A	G	7: 24,173,692 (GRCm39)	N221S	possibly damaging	Het
Plin4	T	C	17: 56,410,828 (GRCm39)	T1068A	probably benign	Het
Plxnd1	T	C	6: 115,936,755 (GRCm39)	D1659G	probably damaging	Het
Prpf8	T	A	11: 75,391,022 (GRCm39)	M1357K	probably benign	Het
Prr36	G	T	8: 4,263,989 (GRCm39)	T559N	unknown	Het
Prss46	A	G	9: 110,678,622 (GRCm39)	M2V	probably benign	Het
Rbpms	T	A	8: 34,354,391 (GRCm39)	E51D	probably damaging	Het
Rere	C	T	4: 150,701,555 (GRCm39)	R328W		Het
Retnla	T	A	16: 48,663,176 (GRCm39)	N26K	probably benign	Het
Rubcnl	G	A	14: 75,269,404 (GRCm39)	V21I	probably benign	Het
Safb	T	A	17: 56,908,504 (GRCm39)	S598R	unknown	Het
Sertad4	A	G	1: 192,529,175 (GRCm39)	S214P	possibly damaging	Het
Sin3a	C	T	9: 57,017,938 (GRCm39)	Q786*	probably null	Het
Slc8a3	A	C	12: 81,361,247 (GRCm39)	L524W	probably damaging	Het
Sp3	T	C	2: 72,801,573 (GRCm39)	T191A	probably benign	Het
Sp9	T	C	2: 73,103,724 (GRCm39)	S93P	probably damaging	Het
Tbrg1	A	C	9: 37,560,771 (GRCm39)	H368Q	probably benign	Het
Tinagl1	T	G	4: 130,061,832 (GRCm39)	Q198H	probably benign	Het
Usp19	C	T	9: 108,373,371 (GRCm39)	R648*	probably null	Het
Vmn2r124	A	G	17: 18,293,985 (GRCm39)	M691V	probably benign	Het
Vmn2r2	T	A	3: 64,024,536 (GRCm39)	M682L	possibly damaging	Het
Vps13d	T	A	4: 144,811,975 (GRCm39)	H3344L		Het
Vwa3a	G	A	7: 120,351,841 (GRCm39)	G35E	probably damaging	Het
Zfhx3	A	G	8: 109,677,754 (GRCm39)	S2935G	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp758	C	A	17: 22,594,646 (GRCm39)	Y377*	probably null	Het
Zfp952	A	G	17: 33,220,983 (GRCm39)	K67R	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	26,328,127 (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
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
R9568:Manea	UTSW	4	26,340,468 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGTTCTTGGCTATCCGAGGG -3'
(R):5'- GGAGTTTAAAGTATGTCATCATGGC -3'

Sequencing Primer
(F):5'- TTCCAGGACCGGATGATTCCAG -3'
(R):5'- TCGAAGAAGGACCTGCATCC -3'

Posted On

2020-09-02