Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Manba'

45149

Institutional Source

Beutler Lab

Gene Symbol

Manba

Ensembl Gene

ENSMUSG00000028164

Gene Name

mannosidase, beta A, lysosomal

Synonyms

B930014J03Rik, Bmn, 2410030O07Rik

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0551 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

135191372-135277165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135223734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 207 (I207T)

Ref Sequence

ENSEMBL: ENSMUSP00000029814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029814] [ENSMUST00000131610]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029814
AA Change: I207T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: I207T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_2_N	42	211	6.5e-11	PFAM
Pfam:Glyco_hydro_2_C	340	595	3.8e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123061

Predicted Effect

probably benign
Transcript: ENSMUST00000131610

SMART Domains

Protein: ENSMUSP00000122148
Gene: ENSMUSG00000028164

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_2_N	22	163	1.8e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140893

Meta Mutation Damage Score

0.5348

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,598 (GRCm39)	T456S	probably benign	Het
Acmsd	A	T	1: 127,694,070 (GRCm39)	K333N	probably benign	Het
Adcy2	T	A	13: 68,944,658 (GRCm39)	K241N	probably damaging	Het
Aebp1	A	G	11: 5,817,955 (GRCm39)	I77V	probably benign	Het
Albfm1	C	T	5: 90,720,578 (GRCm39)	P250S	probably damaging	Het
Ankrd35	A	G	3: 96,591,276 (GRCm39)	T521A	probably benign	Het
Arap2	C	T	5: 62,798,666 (GRCm39)		probably null	Het
Arfgap3	A	T	15: 83,227,338 (GRCm39)	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,737,125 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Auts2	T	C	5: 131,469,307 (GRCm39)	E446G	possibly damaging	Het
Brwd1	C	T	16: 95,837,174 (GRCm39)	R886H	probably damaging	Het
Carm1	G	A	9: 21,491,787 (GRCm39)		probably null	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cfap54	A	T	10: 92,860,984 (GRCm39)	M841K	probably benign	Het
Clca4b	T	A	3: 144,634,387 (GRCm39)	T69S	probably damaging	Het
Cpox	A	G	16: 58,495,753 (GRCm39)	I357V	probably benign	Het
Diaph3	C	A	14: 87,147,536 (GRCm39)	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,567,904 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,651,905 (GRCm39)		probably benign	Het
Fcho1	A	G	8: 72,164,818 (GRCm39)	S488P	probably benign	Het
Flcn	A	G	11: 59,686,574 (GRCm39)		probably null	Het
Flt3l	A	G	7: 44,781,690 (GRCm39)	W234R	probably damaging	Het
Fzd7	G	T	1: 59,522,443 (GRCm39)	V109L	probably damaging	Het
G3bp1	A	G	11: 55,379,969 (GRCm39)	N101S	probably benign	Het
Gadd45g	A	G	13: 52,001,963 (GRCm39)	E143G	probably damaging	Het
Ganab	T	G	19: 8,884,644 (GRCm39)	I149S	probably benign	Het
Garnl3	A	G	2: 32,906,750 (GRCm39)	S413P	probably damaging	Het
Glis1	C	T	4: 107,425,316 (GRCm39)		probably null	Het
Gm11563	A	G	11: 99,549,539 (GRCm39)	S72P	unknown	Het
Gpd1	T	G	15: 99,618,510 (GRCm39)	I188S	possibly damaging	Het
Gria2	A	G	3: 80,639,333 (GRCm39)		probably benign	Het
Hpcal4	G	T	4: 123,082,848 (GRCm39)	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,236,089 (GRCm39)	T1364I	probably benign	Het
Kdm4a	T	C	4: 117,995,428 (GRCm39)	*1065W	probably null	Het
Klkb1	A	G	8: 45,731,003 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,557,951 (GRCm39)	D147G	probably damaging	Het
Lrp1	A	G	10: 127,407,827 (GRCm39)	S1821P	probably benign	Het
Macroh2a2	A	G	10: 61,576,945 (GRCm39)	S308P	probably damaging	Het
Mark3	T	A	12: 111,600,068 (GRCm39)	S428T	probably benign	Het
Mfsd4a	G	A	1: 131,969,657 (GRCm39)	T348I	probably damaging	Het
Mybbp1a	A	G	11: 72,339,202 (GRCm39)	M880V	probably benign	Het
N4bp2	T	A	5: 65,977,684 (GRCm39)		probably null	Het
Nrdc	T	G	4: 108,904,905 (GRCm39)	I712S	probably damaging	Het
Nup210	G	A	6: 90,998,466 (GRCm39)	R774C	possibly damaging	Het
Obscn	G	A	11: 58,998,688 (GRCm39)	R1395*	probably null	Het
Or5b102	T	A	19: 13,041,658 (GRCm39)	D294E	probably benign	Het
Pcdh7	T	C	5: 57,879,336 (GRCm39)	Y964H	probably damaging	Het
Pgap6	C	A	17: 26,339,576 (GRCm39)	Q605K	probably damaging	Het
Plin4	T	C	17: 56,413,756 (GRCm39)	T290A	probably benign	Het
Ppara	T	C	15: 85,671,306 (GRCm39)		probably benign	Het
Psg21	T	G	7: 18,386,565 (GRCm39)		probably null	Het
Ptar1	C	A	19: 23,697,704 (GRCm39)	N405K	probably benign	Het
Ralgps2	A	G	1: 156,660,233 (GRCm39)		probably null	Het
Rnf6	T	A	5: 146,148,205 (GRCm39)	N271I	possibly damaging	Het
Sis	T	C	3: 72,832,740 (GRCm39)	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,329,688 (GRCm39)		probably benign	Het
Slc49a3	A	G	5: 108,592,331 (GRCm39)		probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Sntg1	C	A	1: 8,624,960 (GRCm39)	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,300,260 (GRCm39)	E567D	probably damaging	Het
Sp110	C	A	1: 85,516,821 (GRCm39)		probably benign	Het
Ssu2	A	G	6: 112,357,515 (GRCm39)	V175A	possibly damaging	Het
Stk36	G	A	1: 74,655,780 (GRCm39)	E428K	probably benign	Het
Teddm1b	A	T	1: 153,751,090 (GRCm39)	I300F	possibly damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tiam2	T	A	17: 3,479,229 (GRCm39)	M654K	probably damaging	Het
Tmem69	T	C	4: 116,410,470 (GRCm39)	S167G	probably benign	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tspan10	A	G	11: 120,335,244 (GRCm39)	D118G	probably damaging	Het
Tspo2	A	G	17: 48,755,841 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,738,672 (GRCm39)	Q4002*	probably null	Het
Tyro3	G	A	2: 119,647,385 (GRCm39)	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 87,073,943 (GRCm39)	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,048,524 (GRCm39)	I200F	probably benign	Het

Other mutations in Manba

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Manba	APN	3	135,260,541 (GRCm39)	nonsense	probably null
IGL01443:Manba	APN	3	135,250,589 (GRCm39)	missense	probably damaging	1.00
IGL01796:Manba	APN	3	135,248,150 (GRCm39)	missense	probably damaging	1.00
IGL02396:Manba	APN	3	135,250,525 (GRCm39)	missense	probably damaging	1.00
IGL02471:Manba	APN	3	135,212,769 (GRCm39)	splice site	probably benign
IGL02809:Manba	APN	3	135,253,321 (GRCm39)	missense	probably damaging	1.00
IGL02861:Manba	APN	3	135,276,024 (GRCm39)	missense	probably benign	0.03
IGL02934:Manba	APN	3	135,250,510 (GRCm39)	missense	probably benign	0.00
IGL03130:Manba	APN	3	135,256,920 (GRCm39)	missense	probably damaging	1.00
IGL03237:Manba	APN	3	135,250,512 (GRCm39)	missense	probably damaging	1.00
IGL03342:Manba	APN	3	135,223,748 (GRCm39)	missense	possibly damaging	0.51
R1549:Manba	UTSW	3	135,250,567 (GRCm39)	missense	probably damaging	1.00
R1752:Manba	UTSW	3	135,212,706 (GRCm39)	missense	probably damaging	1.00
R1932:Manba	UTSW	3	135,250,501 (GRCm39)	missense	probably benign	0.01
R1991:Manba	UTSW	3	135,256,952 (GRCm39)	missense	probably benign	0.05
R3729:Manba	UTSW	3	135,260,611 (GRCm39)	missense	probably benign	0.00
R3731:Manba	UTSW	3	135,260,611 (GRCm39)	missense	probably benign	0.00
R3813:Manba	UTSW	3	135,269,023 (GRCm39)	missense	possibly damaging	0.67
R4712:Manba	UTSW	3	135,250,575 (GRCm39)	missense	probably damaging	1.00
R5001:Manba	UTSW	3	135,273,391 (GRCm39)	missense	probably benign	0.00
R5481:Manba	UTSW	3	135,230,317 (GRCm39)	missense	possibly damaging	0.86
R5889:Manba	UTSW	3	135,230,359 (GRCm39)	nonsense	probably null
R6033:Manba	UTSW	3	135,255,022 (GRCm39)	missense	probably benign	0.00
R6033:Manba	UTSW	3	135,255,022 (GRCm39)	missense	probably benign	0.00
R6434:Manba	UTSW	3	135,217,734 (GRCm39)	splice site	probably null
R6760:Manba	UTSW	3	135,248,212 (GRCm39)	missense	probably damaging	0.98
R7164:Manba	UTSW	3	135,248,149 (GRCm39)	missense	probably damaging	1.00
R7182:Manba	UTSW	3	135,273,274 (GRCm39)	missense	probably benign	0.06
R7184:Manba	UTSW	3	135,228,915 (GRCm39)	missense	possibly damaging	0.62
R7212:Manba	UTSW	3	135,273,396 (GRCm39)	missense	probably benign
R7266:Manba	UTSW	3	135,223,673 (GRCm39)	missense	probably damaging	1.00
R7271:Manba	UTSW	3	135,248,137 (GRCm39)	missense	probably damaging	1.00
R7466:Manba	UTSW	3	135,248,154 (GRCm39)	missense	probably benign	0.13
R7467:Manba	UTSW	3	135,250,562 (GRCm39)	missense	probably damaging	1.00
R7542:Manba	UTSW	3	135,272,354 (GRCm39)	missense	probably benign	0.10
R7546:Manba	UTSW	3	135,276,007 (GRCm39)	missense	probably benign	0.01
R7726:Manba	UTSW	3	135,223,770 (GRCm39)	missense	probably benign	0.14
R8475:Manba	UTSW	3	135,217,573 (GRCm39)	missense	probably benign	0.13
R8768:Manba	UTSW	3	135,256,995 (GRCm39)	missense	probably damaging	1.00
R8856:Manba	UTSW	3	135,223,764 (GRCm39)	missense	probably damaging	0.98
R9140:Manba	UTSW	3	135,191,490 (GRCm39)	missense	probably benign
R9449:Manba	UTSW	3	135,255,079 (GRCm39)	missense	probably benign	0.01
Z1176:Manba	UTSW	3	135,269,035 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGACAGCAGTGGAAGGGATGAGGA -3'
(R):5'- GGGGAGGGAGCATGAGTGAAAGGAA -3'

Sequencing Primer
(F):5'- cccgctgagctatctctcc -3'
(R):5'- cctctctctttctttcttcctttc -3'

Posted On

2013-06-11