Mutagenetix > Incidental Mutation

Incidental Mutation 'R9568:Manea'

721744

Institutional Source

Beutler Lab

Gene Symbol

Manea

Ensembl Gene

ENSMUSG00000040520

Gene Name

mannosidase, endo-alpha

Synonyms

4932703L02Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26324506-26346891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26340468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 165 (D165Y)

Ref Sequence

ENSEMBL: ENSMUSP00000038671 (fasta)

Gene Model

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

AlphaFold

Q6NXH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041374
AA Change: D165Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: D165Y

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

SMART Domains

Protein: ENSMUSP00000115791
Gene: ENSMUSG00000040520

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	G	12: 113,508,020 (GRCm39)	V131G	possibly damaging	Het
Agr3	G	T	12: 35,998,349 (GRCm39)	M149I	probably benign	Het
Alox12b	T	A	11: 69,054,836 (GRCm39)	C280S	possibly damaging	Het
Amhr2	C	A	15: 102,353,954 (GRCm39)	Q16K	probably benign	Het
Ank1	A	G	8: 23,609,381 (GRCm39)	T1387A	probably benign	Het
B3gnt9	A	C	8: 105,980,203 (GRCm39)	F395C	probably damaging	Het
BC048562	A	G	9: 108,322,905 (GRCm39)	D80G	probably damaging	Het
Ccdc65	T	A	15: 98,620,819 (GRCm39)	M438K	possibly damaging	Het
Ccz1	T	C	5: 143,938,251 (GRCm39)	R240G	probably damaging	Het
Cish	A	T	9: 107,177,593 (GRCm39)	S90C	probably benign	Het
Col5a2	A	T	1: 45,430,998 (GRCm39)	S881T	possibly damaging	Het
Col6a6	G	A	9: 105,657,926 (GRCm39)	T762I	possibly damaging	Het
Cpa1	A	G	6: 30,640,060 (GRCm39)	K49E	probably benign	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Csmd3	A	G	15: 48,150,942 (GRCm39)	S483P	probably damaging	Het
Cul9	G	A	17: 46,831,044 (GRCm39)	T1643I	possibly damaging	Het
Dock2	T	C	11: 34,599,638 (GRCm39)	K314E	possibly damaging	Het
Elp1	G	T	4: 56,786,711 (GRCm39)	P411T	probably damaging	Het
Fam186b	T	G	15: 99,176,571 (GRCm39)	K773T	probably damaging	Het
Fancl	T	A	11: 26,418,672 (GRCm39)	V259E	probably benign	Het
Fat4	T	G	3: 38,946,156 (GRCm39)	I1683S	probably damaging	Het
Fcamr	T	A	1: 130,732,356 (GRCm39)	H114Q	probably damaging	Het
Fndc11	T	C	2: 180,864,046 (GRCm39)	F284L	probably damaging	Het
Galns	A	G	8: 123,311,649 (GRCm39)		probably null	Het
Gch1	A	G	14: 47,426,637 (GRCm39)	S30P	probably benign	Het
Gcnt3	A	G	9: 69,942,346 (GRCm39)	I74T	probably benign	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gm26566	G	A	4: 88,640,247 (GRCm39)	A13T	unknown	Het
Gm9936	A	T	5: 114,995,166 (GRCm39)	D150E	unknown	Het
Gsn	C	A	2: 35,174,003 (GRCm39)	D75E	probably benign	Het
Ighd2-7	T	C	12: 113,420,344 (GRCm39)	T5A	possibly damaging	Het
Itsn1	G	T	16: 91,649,782 (GRCm39)	R152L	probably benign	Het
Klhl3	A	T	13: 58,157,126 (GRCm39)	L620Q	probably damaging	Het
Larp7-ps	G	T	4: 92,079,915 (GRCm39)	Y24*	probably null	Het
Lpl	G	A	8: 69,340,235 (GRCm39)	V77M	probably benign	Het
Lrfn3	A	T	7: 30,058,916 (GRCm39)	H436Q	probably benign	Het
Lrp1b	A	G	2: 40,569,227 (GRCm39)	C3965R		Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Myom1	A	T	17: 71,394,476 (GRCm39)	Q992L	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nyap1	C	T	5: 137,733,394 (GRCm39)	W546*	probably null	Het
Olfml3	T	G	3: 103,644,282 (GRCm39)	Y129S	possibly damaging	Het
Or4d5	A	T	9: 40,011,864 (GRCm39)	D307E	probably benign	Het
Or5h19	C	A	16: 58,856,213 (GRCm39)	V296F	probably damaging	Het
Or6z5	A	G	7: 6,477,334 (GRCm39)	E75G	probably damaging	Het
Or9k2b	T	A	10: 130,015,814 (GRCm39)	I312F	probably benign	Het
P2rx6	A	C	16: 17,385,300 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,045,160 (GRCm39)	Y1095*	probably null	Het
Pmepa1	G	A	2: 173,069,794 (GRCm39)	R216C	probably damaging	Het
Prodh	A	G	16: 17,902,619 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,689,987 (GRCm39)	Y389H	probably damaging	Het
Ptgs2	G	T	1: 149,976,842 (GRCm39)		probably null	Het
Rbm14	A	G	19: 4,861,464 (GRCm39)	Y25H	probably damaging	Het
Rfc2	T	C	5: 134,622,112 (GRCm39)	L197P	probably damaging	Het
Rnf19b	G	T	4: 128,967,397 (GRCm39)	W313L	probably damaging	Het
Sh3rf1	G	T	8: 61,825,585 (GRCm39)	A527S	probably benign	Het
Slc12a1	A	G	2: 125,032,218 (GRCm39)	Y623C	probably damaging	Het
Slc25a54	T	A	3: 109,005,932 (GRCm39)	W147R	probably damaging	Het
Slc4a1	A	G	11: 102,247,680 (GRCm39)	L401P	probably damaging	Het
Slc4a7	A	G	14: 14,796,073 (GRCm38)		probably null	Het
Stab2	A	G	10: 86,699,420 (GRCm39)	Y1933H	probably damaging	Het
Supt5	A	T	7: 28,014,688 (GRCm39)	V1037E	probably damaging	Het
Sv2b	A	T	7: 74,775,428 (GRCm39)	H466Q	probably benign	Het
Tmco5	G	A	2: 116,710,730 (GRCm39)	E17K	probably damaging	Het
Tmem69	G	A	4: 116,411,972 (GRCm39)	S12F	probably damaging	Het
Trp53	C	A	11: 69,478,392 (GRCm39)	Y100*	probably null	Het
Trpm7	A	T	2: 126,664,510 (GRCm39)	H956Q	probably benign	Het
Tsnaxip1	G	A	8: 106,569,135 (GRCm39)	R495H	probably benign	Het
Vmn1r237	A	T	17: 21,534,777 (GRCm39)	I167F	probably benign	Het
Vmn1r70	A	G	7: 10,368,292 (GRCm39)	D260G	probably benign	Het
Zbtb38	G	A	9: 96,570,944 (GRCm39)	H47Y	probably damaging	Het
Zfp184	G	T	13: 22,142,897 (GRCm39)	C201F	probably benign	Het
Zfp384	T	A	6: 125,001,796 (GRCm39)	I147N	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
R7699:Manea	UTSW	4	26,340,758 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACACACATGCATTTTAATCAAGGGG -3'
(R):5'- TGGAAGAACTACCTCCTCTGAATTAC -3'

Sequencing Primer
(F):5'- TGCATTTTAATCAAGGGGTATTACC -3'
(R):5'- CATGCATTTTATTACAGTTGGTATGG -3'

Posted On

2022-08-09