Mutagenetix > Incidental Mutation

Incidental Mutation 'R8768:Manba'

664208

Institutional Source

Beutler Lab

Gene Symbol

Manba

Ensembl Gene

ENSMUSG00000028164

Gene Name

mannosidase, beta A, lysosomal

Synonyms

B930014J03Rik, Bmn, 2410030O07Rik

MMRRC Submission

068623-MU

Accession Numbers

Essential gene?

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

Stock #

R8768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135191372-135277165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135256995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 553 (S553T)

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: S553T

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

SMART Domains

Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: S553T

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

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

Coding Region Coverage

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

Validation Efficiency

99% (76/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,740,588 (GRCm39)	C222S	probably benign	Het
Actrt3	T	G	3: 30,651,992 (GRCm39)	R367S	probably damaging	Het
Alg1	T	C	16: 5,060,416 (GRCm39)	V379A	probably damaging	Het
Ankrd36	A	G	11: 5,593,763 (GRCm39)	E456G	probably benign	Het
Arhgef33	G	T	17: 80,681,148 (GRCm39)	A763S	possibly damaging	Het
Armc5	T	G	7: 127,841,783 (GRCm39)	V597G	probably benign	Het
Asb10	G	T	5: 24,738,690 (GRCm39)	R456S	probably damaging	Het
Asph	A	G	4: 9,453,417 (GRCm39)	F702L	probably damaging	Het
Atf7	T	A	15: 102,449,324 (GRCm39)	T326S	probably benign	Het
Atxn7l2	T	C	3: 108,114,250 (GRCm39)	N171D	probably benign	Het
BC049715	T	A	6: 136,816,979 (GRCm39)	M73K	possibly damaging	Het
C2cd6	A	G	1: 59,105,312 (GRCm39)	V322A	probably benign	Het
Cadps2	A	C	6: 23,382,938 (GRCm39)	C807W	probably damaging	Het
Ccdc57	C	T	11: 120,788,788 (GRCm39)	R353H	probably benign	Het
Ccdc89	T	C	7: 90,075,793 (GRCm39)	M1T	probably null	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Csmd3	T	A	15: 47,561,572 (GRCm39)	I1335F		Het
Dap3	A	G	3: 88,834,334 (GRCm39)	M294T	probably damaging	Het
Dbh	A	G	2: 27,060,328 (GRCm39)	D168G	probably benign	Het
Dchs2	C	A	3: 83,253,592 (GRCm39)	A2334E	probably benign	Het
Dcun1d4	T	A	5: 73,678,310 (GRCm39)	Y102N	probably benign	Het
Dhtkd1	T	C	2: 5,903,533 (GRCm39)	T918A	probably benign	Het
Dmgdh	C	T	13: 93,825,118 (GRCm39)	T147I	possibly damaging	Het
Dmxl2	T	G	9: 54,301,105 (GRCm39)	K2335N	possibly damaging	Het
Efna5	T	C	17: 63,188,125 (GRCm39)	M1V	probably null	Het
Fpr-rs3	T	C	17: 20,844,944 (GRCm39)	N66D	probably damaging	Het
Gas2l2	C	A	11: 83,313,999 (GRCm39)	A438S	probably benign	Het
Hivep3	T	C	4: 119,989,521 (GRCm39)	S1991P	probably damaging	Het
Hsp90b1	A	T	10: 86,541,169 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,878,102 (GRCm39)	N875K	probably damaging	Het
Jag1	A	C	2: 136,943,521 (GRCm39)	M225R	possibly damaging	Het
Jag1	T	C	2: 136,932,708 (GRCm39)		probably benign	Het
Kcnn2	C	T	18: 45,692,502 (GRCm39)	S26L	possibly damaging	Het
Kctd2	T	C	11: 115,311,279 (GRCm39)	S96P	probably damaging	Het
Klhl25	A	G	7: 75,516,359 (GRCm39)	N422D	probably damaging	Het
Lhx8	A	T	3: 154,027,886 (GRCm39)	V222E	possibly damaging	Het
Lrig1	A	T	6: 94,631,840 (GRCm39)	V120D	possibly damaging	Het
Mllt10	T	A	2: 18,167,583 (GRCm39)	S503T	probably damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or1l4b	C	T	2: 37,037,016 (GRCm39)	S264L	probably benign	Het
Or8b50	A	C	9: 38,518,441 (GRCm39)	K227Q	probably benign	Het
Pdzd2	C	T	15: 12,437,252 (GRCm39)	E450K	probably damaging	Het
Phrf1	T	A	7: 140,838,651 (GRCm39)	F615L	unknown	Het
Plch2	C	A	4: 155,083,324 (GRCm39)	G538V	probably damaging	Het
Ppp2r2d	T	A	7: 138,475,897 (GRCm39)	I235N	probably damaging	Het
Prdm15	A	T	16: 97,638,888 (GRCm39)	D57E	probably benign	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptger4	T	A	15: 5,272,138 (GRCm39)	R185S	probably benign	Het
Ptp4a2	T	A	4: 129,740,299 (GRCm39)	M121K	probably damaging	Het
Ptpre	T	G	7: 135,283,306 (GRCm39)	F659V	possibly damaging	Het
Rad54l2	T	G	9: 106,596,809 (GRCm39)	D199A	probably benign	Het
Rap1gds1	T	C	3: 138,647,521 (GRCm39)	M556V	probably benign	Het
Scaf8	T	C	17: 3,243,349 (GRCm39)	V711A	probably benign	Het
Sesn3	G	A	9: 14,225,964 (GRCm39)	C233Y	probably damaging	Het
Slc45a1	T	A	4: 150,714,206 (GRCm39)	I680F	probably damaging	Het
Slco1a6	C	T	6: 142,078,897 (GRCm39)	V133M	probably benign	Het
Syt6	T	C	3: 103,492,850 (GRCm39)	L119P	probably benign	Het
Szt2	A	C	4: 118,226,613 (GRCm39)	S2974R	unknown	Het
Taok1	A	T	11: 77,444,712 (GRCm39)	H454Q	probably damaging	Het
Tbx10	G	A	19: 4,047,303 (GRCm39)	V136M	probably damaging	Het
Tespa1	A	G	10: 130,198,027 (GRCm39)	T350A	probably benign	Het
Tnks1bp1	T	A	2: 84,900,980 (GRCm39)	Y1562*	probably null	Het
Trank1	T	A	9: 111,218,344 (GRCm39)	F1908Y	probably benign	Het
Trav6d-4	A	T	14: 52,991,243 (GRCm39)	H96L	possibly damaging	Het
Tspoap1	T	C	11: 87,669,197 (GRCm39)	I1490T	probably benign	Het
Ttc21a	T	C	9: 119,770,286 (GRCm39)	F119S	probably damaging	Het
Ttll3	T	G	6: 113,385,949 (GRCm39)	M594R	probably damaging	Het
Ttn	T	A	2: 76,798,790 (GRCm39)	R495*	probably null	Het
Twf1	A	C	15: 94,479,110 (GRCm39)	L250V	probably damaging	Het
Ubr4	A	T	4: 139,149,076 (GRCm39)	E458D		Het
Unc50	T	C	1: 37,476,244 (GRCm39)	F135L	probably benign	Het
Vwa3a	T	A	7: 120,375,299 (GRCm39)	I371N	probably damaging	Het
Zfp180	T	C	7: 23,805,161 (GRCm39)	S527P	probably damaging	Het
Zfp512	T	A	5: 31,630,882 (GRCm39)	I408N	probably damaging	Het
Zfp57	A	G	17: 37,317,077 (GRCm39)	T52A	probably benign	Het
Zranb2	A	G	3: 157,247,327 (GRCm39)		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
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
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
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'- TATCCCCATGTCCAGGAAGAC -3'
(R):5'- TCCCCTCAAAAGGCAGTTATAC -3'

Sequencing Primer
(F):5'- GAAGACAAGAGCCGTCCTTTCATTG -3'
(R):5'- TCCTCAGCCATCATTAAGGCGG -3'

Posted On

2021-03-08