Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Manba'

595481

Institutional Source

Beutler Lab

Gene Symbol

Manba

Ensembl Gene

ENSMUSG00000028164

Gene Name

mannosidase, beta A, lysosomal

Synonyms

B930014J03Rik, Bmn, 2410030O07Rik

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

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

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135191372-135277165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135223770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 219 (T219M)

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: T219M

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: T219M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	G	8: 44,104,208 (GRCm39)	N479T	probably damaging	Het
Add3	C	G	19: 53,227,892 (GRCm39)	L526V	probably damaging	Het
Alas1	T	C	9: 106,124,150 (GRCm39)	T3A	probably benign	Het
Arap3	C	T	18: 38,122,520 (GRCm39)	D579N	probably damaging	Het
Armc6	C	A	8: 70,675,248 (GRCm39)	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 87,251,813 (GRCm39)	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,690,504 (GRCm39)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,639,559 (GRCm39)	D112E	probably benign	Het
Brf1	T	G	12: 112,927,865 (GRCm39)	K438T	probably benign	Het
Cabs1	A	T	5: 88,128,145 (GRCm39)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,429,071 (GRCm39)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,339,230 (GRCm39)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,213,510 (GRCm39)	*120W	probably null	Het
Col17a1	C	A	19: 47,643,629 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,385,621 (GRCm39)	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,290,690 (GRCm39)	S337*	probably null	Het
Cx3cl1	T	C	8: 95,506,867 (GRCm39)	S291P	probably damaging	Het
Dhx36	G	T	3: 62,396,389 (GRCm39)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,650,219 (GRCm39)	Q322K	possibly damaging	Het
Ero1b	A	G	13: 12,620,722 (GRCm39)	*494W	probably null	Het
Exph5	G	A	9: 53,284,475 (GRCm39)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam222b	A	G	11: 78,044,577 (GRCm39)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,420,086 (GRCm39)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,373,656 (GRCm39)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,860,310 (GRCm39)	I2119F	probably benign	Het
Gpr37	G	A	6: 25,669,116 (GRCm39)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,808,644 (GRCm39)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,407,204 (GRCm39)	N342S	probably benign	Het
Kcnh6	T	C	11: 105,908,401 (GRCm39)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,627,840 (GRCm39)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,519,751 (GRCm39)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm39)	Y306*	probably null	Het
Mastl	T	C	2: 23,030,807 (GRCm39)		probably null	Het
Med15	T	G	16: 17,473,038 (GRCm39)	M550L	possibly damaging	Het
Men1	G	A	19: 6,387,312 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,571,957 (GRCm39)		probably null	Het
Myh6	G	T	14: 55,202,822 (GRCm39)	D32E	probably damaging	Het
Ntmt2	A	G	1: 163,530,753 (GRCm39)	C229R	probably benign	Het
Ntn4	A	G	10: 93,569,544 (GRCm39)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,151,623 (GRCm39)	P393S	probably damaging	Het
Or2y1d	T	A	11: 49,321,727 (GRCm39)	C141*	probably null	Het
Or6b2b	A	T	1: 92,419,029 (GRCm39)	F149L	probably benign	Het
Pakap	C	T	4: 57,709,876 (GRCm39)	P274S	probably damaging	Het
Papss2	A	T	19: 32,611,403 (GRCm39)		probably null	Het
Pcdhgc3	T	C	18: 37,939,932 (GRCm39)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 126,577,069 (GRCm39)	V988I	probably benign	Het
Pom121	C	T	5: 135,407,002 (GRCm39)	G1178S	probably damaging	Het
Prss33	A	G	17: 24,053,203 (GRCm39)	C213R	probably damaging	Het
Scap	G	A	9: 110,207,435 (GRCm39)		probably null	Het
Shfl	T	C	9: 20,784,461 (GRCm39)	Y182H	possibly damaging	Het
Sirpb1c	T	A	3: 15,902,550 (GRCm39)	I10F	possibly damaging	Het
Slc28a2b	A	G	2: 122,317,214 (GRCm39)	E25G	probably damaging	Het
Spata31e2	C	A	1: 26,723,579 (GRCm39)	A534S	probably benign	Het
Spink5	T	C	18: 44,096,419 (GRCm39)	L16P	probably damaging	Het
Sting1	C	T	18: 35,868,318 (GRCm39)	A261T	probably damaging	Het
Stk4	T	G	2: 163,952,146 (GRCm39)	M1R	probably null	Het
Stub1	A	T	17: 26,050,106 (GRCm39)	Y253*	probably null	Het
Tasor	C	A	14: 27,169,454 (GRCm39)	N338K	probably damaging	Het
Tbce	A	G	13: 14,203,875 (GRCm39)	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,379,065 (GRCm39)	R590G	probably benign	Het
Ubr4	C	T	4: 139,186,231 (GRCm39)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,182,939 (GRCm39)	C253*	probably null	Het
Wfdc8	C	A	2: 164,441,906 (GRCm39)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,621,975 (GRCm39)	D441G	probably benign	Het
Zscan4d	G	T	7: 10,899,169 (GRCm39)	P36Q	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
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
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'- AGCATGTATCATAGTGTCTTCGTAC -3'
(R):5'- CTATCTACAGGCCTGGTTTATGCTG -3'

Sequencing Primer
(F):5'- CATAGTGTCTTCGTACACACATATC -3'
(R):5'- TGCTGTAAGTTTTCATGACAAACC -3'

Posted On

2019-11-12