Mutagenetix > Incidental Mutation

Incidental Mutation 'R4472:Man1b1'

330384

Institutional Source

Beutler Lab

Gene Symbol

Man1b1

Ensembl Gene

ENSMUSG00000036646

Gene Name

mannosidase, alpha, class 1B, member 1

Synonyms

E430019H13Rik, LOC227619, MANA-ER

MMRRC Submission

041729-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4472 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

25222742-25242225 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to G at 25222867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042390] [ENSMUST00000136245]

AlphaFold

A2AJ15

Predicted Effect

probably benign
Transcript: ENSMUST00000042390

SMART Domains

Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	29	42	N/A	INTRINSIC
transmembrane domain	49	71	N/A	INTRINSIC
Pfam:Glyco_hydro_47	215	654	9.5e-167	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136245

SMART Domains

Protein: ENSMUSP00000114989
Gene: ENSMUSG00000036646

Domain	Start	End	E-Value	Type
transmembrane domain	68	87	N/A	INTRINSIC
PDB:1X9D\|A	145	238	9e-21	PDB
SCOP:d1fo3a_	217	237	1e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180841

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	T	9: 39,961,994 (GRCm39)		noncoding transcript	Het
Accsl	T	A	2: 93,694,336 (GRCm39)		probably null	Het
Accsl	G	T	2: 93,694,337 (GRCm39)		probably null	Het
Adcy1	G	A	11: 7,080,369 (GRCm39)	V371M	probably damaging	Het
Adgrb2	C	T	4: 129,902,146 (GRCm39)	A509V	probably benign	Het
Adgrg6	T	A	10: 14,312,525 (GRCm39)	Q754L	probably damaging	Het
Agap2	T	C	10: 126,927,082 (GRCm39)	I1008T	probably damaging	Het
Aph1c	T	G	9: 66,735,051 (GRCm39)	H150P	probably damaging	Het
Atcay	T	C	10: 81,048,361 (GRCm39)	R242G	possibly damaging	Het
Atg2a	G	A	19: 6,308,985 (GRCm39)	V1724M	probably damaging	Het
Bbs12	T	C	3: 37,373,369 (GRCm39)	V54A	possibly damaging	Het
Card14	A	G	11: 119,224,784 (GRCm39)	M604V	possibly damaging	Het
Cd28	A	T	1: 60,802,393 (GRCm39)	H104L	probably benign	Het
Cntn5	A	T	9: 10,048,776 (GRCm39)	D262E	probably damaging	Het
Col6a3	A	G	1: 90,749,736 (GRCm39)	V366A	probably benign	Het
Csnk1d	G	A	11: 120,855,800 (GRCm39)		probably benign	Het
Dcaf11	T	A	14: 55,803,063 (GRCm39)		probably benign	Het
Dpy19l4	G	A	4: 11,304,053 (GRCm39)	T119M	possibly damaging	Het
Eif3f	T	C	7: 108,540,153 (GRCm39)	V316A	possibly damaging	Het
Fbrsl1	G	A	5: 110,526,932 (GRCm39)		probably benign	Het
Fbxo10	C	T	4: 45,043,693 (GRCm39)	R710H	probably damaging	Het
Fbxw9	G	A	8: 85,786,829 (GRCm39)	D25N	probably damaging	Het
Gm14295	C	T	2: 176,501,386 (GRCm39)	T292I	possibly damaging	Het
Gm4884	C	G	7: 40,692,687 (GRCm39)	Q219E	probably benign	Het
Gpr150	A	G	13: 76,204,273 (GRCm39)	V224A	probably benign	Het
Hps1	A	T	19: 42,750,935 (GRCm39)	I355N	probably damaging	Het
Lmbr1l	A	G	15: 98,804,178 (GRCm39)	S374P	probably benign	Het
Macf1	A	T	4: 123,289,782 (GRCm39)	N5458K	probably damaging	Het
Morc3	A	G	16: 93,671,645 (GRCm39)		probably null	Het
Mrgpra4	T	C	7: 47,631,539 (GRCm39)	T21A	probably benign	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Nkain4	C	G	2: 180,596,415 (GRCm39)	M1I	probably null	Het
Nktr	T	C	9: 121,577,962 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Oas2	A	T	5: 120,879,220 (GRCm39)	D373E	possibly damaging	Het
Or8g37	T	A	9: 39,731,870 (GRCm39)	*312R	probably null	Het
Oser1	T	A	2: 163,257,500 (GRCm39)	E11V	probably null	Het
Oser1	C	T	2: 163,257,501 (GRCm39)	E11K	probably damaging	Het
Pacsin3	A	G	2: 91,093,288 (GRCm39)		probably null	Het
Pcdh20	T	C	14: 88,706,434 (GRCm39)	S289G	probably benign	Het
Phlpp1	A	G	1: 106,314,176 (GRCm39)	D1183G	probably damaging	Het
Pign	T	C	1: 105,575,945 (GRCm39)	K232E	probably benign	Het
Polk	A	G	13: 96,630,413 (GRCm39)	S383P	probably damaging	Het
Prom2	C	A	2: 127,382,111 (GRCm39)	R101L	probably benign	Het
Rest	T	C	5: 77,429,027 (GRCm39)	V482A	probably benign	Het
Rexo1	A	T	10: 80,378,492 (GRCm39)	S476T	probably damaging	Het
Rnf31	T	A	14: 55,840,777 (GRCm39)	Y1015N	probably damaging	Het
Spata3	T	C	1: 85,954,152 (GRCm39)	Y305H	probably benign	Het
Sv2a	G	A	3: 96,099,810 (GRCm39)	V587M	probably benign	Het
Synj1	A	G	16: 90,766,069 (GRCm39)		probably null	Het
Syt17	A	G	7: 118,036,040 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tcaf1	A	C	6: 42,656,248 (GRCm39)	S243A	probably benign	Het
Tmem9	A	G	1: 135,955,234 (GRCm39)	T123A	probably benign	Het
Trav4-4-dv10	T	C	14: 53,921,187 (GRCm39)		probably benign	Het
Trbv15	G	A	6: 41,118,493 (GRCm39)	R83Q	probably damaging	Het
Trim27	A	G	13: 21,374,056 (GRCm39)	I268V	probably benign	Het
Tubgcp6	T	A	15: 88,987,857 (GRCm39)	S1031C	probably damaging	Het
Vmn1r89	C	A	7: 12,953,799 (GRCm39)	H110Q	probably benign	Het
Vmn2r30	T	C	7: 7,320,091 (GRCm39)	N545S	probably damaging	Het
Wls	G	A	3: 159,603,020 (GRCm39)	M144I	probably benign	Het
Yme1l1	T	C	2: 23,076,344 (GRCm39)		probably null	Het
Zeb2	A	T	2: 44,913,023 (GRCm39)	L56Q	probably damaging	Het

Other mutations in Man1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Man1b1	APN	2	25,233,337 (GRCm39)	missense	possibly damaging	0.53
IGL01338:Man1b1	APN	2	25,228,239 (GRCm39)	missense	probably benign	0.01
IGL01934:Man1b1	APN	2	25,235,523 (GRCm39)	missense	probably benign	0.00
IGL03063:Man1b1	APN	2	25,224,416 (GRCm39)	missense	possibly damaging	0.48
IGL03067:Man1b1	APN	2	25,239,344 (GRCm39)	missense	probably benign
canebrake	UTSW	2	25,233,365 (GRCm39)	missense	probably damaging	1.00
sugarcane	UTSW	2	25,233,263 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Man1b1	UTSW	2	25,233,282 (GRCm39)	missense	probably damaging	1.00
R0731:Man1b1	UTSW	2	25,228,167 (GRCm39)	missense	possibly damaging	0.87
R1716:Man1b1	UTSW	2	25,235,032 (GRCm39)	missense	probably benign	0.14
R4470:Man1b1	UTSW	2	25,222,867 (GRCm39)	intron	probably benign
R4838:Man1b1	UTSW	2	25,235,487 (GRCm39)	missense	possibly damaging	0.79
R4953:Man1b1	UTSW	2	25,228,196 (GRCm39)	missense	probably damaging	0.99
R5162:Man1b1	UTSW	2	25,233,365 (GRCm39)	missense	probably damaging	1.00
R5861:Man1b1	UTSW	2	25,238,066 (GRCm39)	missense	probably benign	0.01
R6608:Man1b1	UTSW	2	25,233,263 (GRCm39)	missense	probably damaging	1.00
R7098:Man1b1	UTSW	2	25,228,196 (GRCm39)	missense	probably damaging	0.99
R7215:Man1b1	UTSW	2	25,240,402 (GRCm39)	missense	probably benign	0.00
Z1176:Man1b1	UTSW	2	25,234,995 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- ATACCAGCACAAGGGTGTAC -3'
(R):5'- ACTTCTGGACGCTGGAAGAG -3'

Sequencing Primer
(F):5'- AGGCGCGGTGCTTAGACTAG -3'
(R):5'- CGAACGCTCCAGCTAGGTACTTC -3'

Posted On

2015-07-21