Mutagenetix > Incidental Mutation

Incidental Mutation 'RF051:Manbal'

605135

Institutional Source

Beutler Lab

Gene Symbol

Manbal

Ensembl Gene

ENSMUSG00000063019

Gene Name

mannosidase, beta A, lysosomal-like

Synonyms

1810024K12Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

RF051 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

157209514-157238683 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

CGATAGAAT to C at 157237932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081202]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000081202

SMART Domains

Protein: ENSMUSP00000079965
Gene: ENSMUSG00000063019

Domain	Start	End	E-Value	Type
Pfam:UPF0239	1	85	3.3e-45	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cnpy3	CTC	CTCATC	17: 47,047,674 (GRCm39)		probably benign	Het
Gabre	CTCCGG	CTCCGGGTCCGG	X: 71,313,655 (GRCm39)		probably benign	Het
Garin5a	GGGTCTGAGGGAGGA	GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA	7: 44,149,947 (GRCm39)		probably null	Het
Gm14399	G	C	2: 174,972,994 (GRCm39)	Q254E	probably benign	Het
Hsdl2	TGC	TGCCGGAGCAGCCACAGCGGC	4: 59,610,636 (GRCm39)		probably benign	Het
Hsdl2	CAGCTGCAG	CAGCTGCAGCAGCAGCCAAAGCTGCAG	4: 59,610,650 (GRCm39)		probably benign	Het
Il2	GGG	GGGGCTTGAAGTGGG	3: 37,179,990 (GRCm39)		probably benign	Het
Kmt2c	CCTTCT	CCT	5: 25,518,477 (GRCm39)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,136,777 (GRCm39)		probably benign	Het
Mei1	GC	GCTGGCTGCC	15: 81,954,211 (GRCm39)		probably null	Het
Nalf2	GCCGCC	GCCGCCACCGCC	X: 98,864,968 (GRCm39)		probably benign	Het
Nbea	TTTA	T	3: 55,916,633 (GRCm39)		probably benign	Het
Nefh	TGGCC	TGGCCGCACCTGGGGCCTCGGCC	11: 4,891,054 (GRCm39)		probably benign	Het
Or2b7	GCCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTATGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT	GGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT	13: 21,739,693 (GRCm39)		probably null	Het
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,134,010 (GRCm39)		probably benign	Het
Plekhg2	GGTG	GG	7: 28,061,777 (GRCm39)		probably null	Het
Rassf6	AGCAATGGGGA	AGCAATGGGGAATCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGA	5: 90,756,788 (GRCm39)		probably benign	Het
Smarca2	AGCAGC	AGCAGCCGCAGC	19: 26,608,388 (GRCm39)		probably benign	Het
Stard8	GAG	GAGCAG	X: 98,110,130 (GRCm39)		probably benign	Het
Tcof1	CTTGGC	CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCATTGGC	18: 60,966,651 (GRCm39)		probably benign	Het
Triobp	AGCCCCAGGACTCCCTGTGCCCAACGG	AGCCCCAGGACTCCCTGTGCCCAACGGAACAGCCCCAGGACTCCCTGTGCCCAACGG	15: 78,851,234 (GRCm39)		probably benign	Het
Usp2	C	CTCATGTGACCTGTTCTTCACTTCT	9: 44,000,426 (GRCm39)		probably benign	Het

Other mutations in Manbal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R9052:Manbal	UTSW	2	157,221,107 (GRCm39)	missense	probably damaging	1.00
RF035:Manbal	UTSW	2	157,237,932 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGACAGCATCCCGTTGGTC -3'
(R):5'- TTGAGAATCTCCCGTGCAC -3'

Sequencing Primer
(F):5'- TGGTCAAGCTGGAGTCCTCTAAAC -3'
(R):5'- TCTGCACAGCTGGAGCCTAAG -3'

Posted On

2019-12-04