Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Manba'

559032

Institutional Source

Beutler Lab

Gene Symbol

Manba

Ensembl Gene

ENSMUSG00000028164

Gene Name

mannosidase, beta A, lysosomal

Synonyms

B930014J03Rik, Bmn, 2410030O07Rik

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135191372-135277165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135273274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 736 (N736I)

Ref Sequence

ENSEMBL: ENSMUSP00000029814 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029814
AA Change: N736I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: N736I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,578 (GRCm39)	V323A	unknown	Het
AC117241.1	A	G	17: 7,620,087 (GRCm39)	V158A	unknown	Het
Acadm	A	G	3: 153,647,518 (GRCm39)		probably null	Het
Adcy10	T	G	1: 165,371,039 (GRCm39)		probably null	Het
Aldh6a1	C	T	12: 84,488,605 (GRCm39)	A94T	probably benign	Het
Ano2	T	A	6: 125,767,256 (GRCm39)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,596,629 (GRCm39)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 57,941,456 (GRCm39)		probably null	Het
Cep112	A	C	11: 108,573,670 (GRCm39)	D6A	probably benign	Het
Chd9	T	C	8: 91,733,250 (GRCm39)	F1373S	unknown	Het
Cog5	T	C	12: 31,735,707 (GRCm39)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,731,400 (GRCm39)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,294,924 (GRCm39)	V3A		Het
Dnah7a	T	A	1: 53,659,620 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,268,880 (GRCm39)	H716Q	probably benign	Het
Epor	A	G	9: 21,874,625 (GRCm39)	F35L	probably benign	Het
Ergic1	A	T	17: 26,873,856 (GRCm39)	Y92F		Het
Fam98a	G	A	17: 75,846,013 (GRCm39)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,356,157 (GRCm39)	T429I	probably damaging	Het
Fmnl2	T	A	2: 52,997,453 (GRCm39)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,219,663 (GRCm39)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,811,333 (GRCm39)	M271V	probably damaging	Het
Garin4	C	T	1: 190,895,548 (GRCm39)	R365H	probably damaging	Het
Gk5	G	T	9: 96,001,579 (GRCm39)	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,007,408 (GRCm39)	N162K	probably benign	Het
Gm3604	T	C	13: 62,519,689 (GRCm39)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,094,865 (GRCm39)	H294N	probably benign	Het
Hsf2	T	A	10: 57,381,272 (GRCm39)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,768,293 (GRCm39)	Y153*	probably null	Het
Impdh2	G	A	9: 108,440,407 (GRCm39)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,002,416 (GRCm39)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,648,765 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,814,149 (GRCm39)	D551E	probably benign	Het
Map2	A	G	1: 66,451,812 (GRCm39)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,761,197 (GRCm39)	K121N	unknown	Het
Mfn1	T	A	3: 32,618,369 (GRCm39)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,916,157 (GRCm39)		probably null	Het
Mnat1	G	T	12: 73,277,452 (GRCm39)	E233*	probably null	Het
Mtmr4	T	C	11: 87,495,431 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,660,904 (GRCm39)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,396,382 (GRCm39)	R165C	unknown	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Nod2	A	G	8: 89,390,460 (GRCm39)	T256A	probably benign	Het
Notch4	T	A	17: 34,802,473 (GRCm39)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,261,776 (GRCm39)	D169E	possibly damaging	Het
Obscn	A	T	11: 58,925,927 (GRCm39)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,353,208 (GRCm39)	G294E	unknown	Het
Osbpl10	G	A	9: 114,896,319 (GRCm39)	D18N	probably damaging	Het
Pigk	G	A	3: 152,428,188 (GRCm39)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,621,153 (GRCm39)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,381,553 (GRCm39)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,132,070 (GRCm39)	D159G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,774,643 (GRCm39)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,221,134 (GRCm39)	I842F	probably benign	Het
Scnm1	A	T	3: 95,041,165 (GRCm39)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,400,457 (GRCm39)	I137N	probably benign	Het
Slc30a3	T	C	5: 31,244,169 (GRCm39)	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,247,014 (GRCm39)	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,857,565 (GRCm39)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,602,656 (GRCm39)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,648,271 (GRCm39)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm39)	S3552T	probably benign	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Trim61	A	T	8: 65,466,266 (GRCm39)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm39)	T227P	probably benign	Het
Trpc3	T	C	3: 36,709,258 (GRCm39)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,485,740 (GRCm39)	Y2950F	probably benign	Het
Usp32	C	T	11: 84,930,996 (GRCm39)	G478D	probably benign	Het
Wdfy3	A	G	5: 102,091,758 (GRCm39)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,543,426 (GRCm39)	V163A	possibly damaging	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
R0551:Manba	UTSW	3	135,223,734 (GRCm39)	missense	probably damaging	0.98
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
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'- TAATTAGTGACGTGGCTAGAGC -3'
(R):5'- ACAGTGATGTTGGCCTCGAG -3'

Sequencing Primer
(F):5'- ATTAGTGACGTGGCTAGAGCTTTGG -3'
(R):5'- CCTTTAGCGTCCTTCAGGGAG -3'

Posted On

2019-06-26