Mutagenetix > Incidental Mutation

Incidental Mutation 'R1991:Manba'

225085

Institutional Source

Beutler Lab

Gene Symbol

Manba

Ensembl Gene

ENSMUSG00000028164

Gene Name

mannosidase, beta A, lysosomal

Synonyms

B930014J03Rik, Bmn, 2410030O07Rik

MMRRC Submission

040002-MU

Accession Numbers

Essential gene?

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

Stock #

R1991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135191372-135277165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135256952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 538 (D538E)

Ref Sequence

ENSEMBL: ENSMUSP00000029814 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029814
AA Change: D538E

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: D538E

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: ENSMUST00000130147

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: ENSMUST00000134478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147872

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Afap1l2	A	T	19: 56,990,699 (GRCm39)	I18N	possibly damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,094,644 (GRCm39)	S48P	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,088,916 (GRCm39)	N466D	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,629,257 (GRCm39)	E523G	probably benign	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Bag3	C	T	7: 128,147,407 (GRCm39)	H341Y	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cep290	T	A	10: 100,367,046 (GRCm39)	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cped1	A	G	6: 22,233,926 (GRCm39)	T847A	probably damaging	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327 (GRCm39)	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dnai3	G	T	3: 145,769,235 (GRCm39)	T522K	possibly damaging	Het
Dpp10	A	T	1: 123,832,833 (GRCm39)	V48E	probably null	Het
Dsg2	A	G	18: 20,734,530 (GRCm39)	K836R	probably damaging	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Erc2	A	G	14: 27,733,593 (GRCm39)	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fhad1	T	C	4: 141,709,473 (GRCm39)	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gpr161	G	T	1: 165,134,132 (GRCm39)	M131I	probably damaging	Het
Gpr22	T	A	12: 31,759,202 (GRCm39)	M270L	probably benign	Het
Grin3b	C	A	10: 79,806,746 (GRCm39)	Q5K	probably benign	Het
Grin3b	C	T	10: 79,810,480 (GRCm39)	A662V	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,516,480 (GRCm39)	V157D	probably damaging	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Krt81	T	C	15: 101,360,435 (GRCm39)	Q184R	probably benign	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lin54	A	G	5: 100,633,660 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mfap4	T	C	11: 61,376,633 (GRCm39)		probably null	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek4	A	G	14: 30,678,910 (GRCm39)	I145V	probably damaging	Het
Nlrp14	T	C	7: 106,795,407 (GRCm39)	V230A	probably benign	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Or11h6	G	A	14: 50,880,323 (GRCm39)	C195Y	possibly damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or6k8-ps1	C	T	1: 173,979,687 (GRCm39)	H202Y	probably damaging	Het
Pcdhb13	C	T	18: 37,576,912 (GRCm39)	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pigm	T	G	1: 172,204,828 (GRCm39)	L188R	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Plk5	C	T	10: 80,198,936 (GRCm39)	S435L	possibly damaging	Het
Pms1	G	A	1: 53,321,201 (GRCm39)	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,431,895 (GRCm39)	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,817,655 (GRCm39)	D203A	probably damaging	Het
Psg17	A	G	7: 18,548,577 (GRCm39)	V398A	probably benign	Het
Pum1	T	A	4: 130,445,529 (GRCm39)	I166K	possibly damaging	Het
R3hdm1	T	A	1: 128,096,753 (GRCm39)	D108E	probably damaging	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,343,252 (GRCm39)	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,452,293 (GRCm39)	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Spib	T	C	7: 44,178,281 (GRCm39)	E180G	probably benign	Het
Spint5	T	C	2: 164,558,903 (GRCm39)		probably benign	Het
Ssr2	T	A	3: 88,484,174 (GRCm39)		probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tfpi	A	C	2: 84,288,360 (GRCm39)		probably benign	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim30a	T	A	7: 104,079,437 (GRCm39)		probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563 (GRCm39)	I279T	probably benign	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ush2a	C	T	1: 188,310,729 (GRCm39)		probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Virma	T	A	4: 11,519,242 (GRCm39)	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,001,853 (GRCm39)	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,994,305 (GRCm39)	V448A	probably damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,313,452 (GRCm39)	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	probably benign	Het
Zfr2	A	T	10: 81,078,686 (GRCm39)	D306V	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
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'- ATCTTGCCGAACCAACATATTATCC -3'
(R):5'- AAGGCGGGATTCTTTCCTTTC -3'

Sequencing Primer
(F):5'- TTTCAATGCTATCCCAAAAGTCCG -3'
(R):5'- AGGCGGGATTCTTTCCTTTCATCTC -3'

Posted On

2014-08-25