Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Man1b1'

180573

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Man1b1

Ensembl Gene

ENSMUSG00000036646

Gene Name

mannosidase, alpha, class 1B, member 1

Synonyms

E430019H13Rik, LOC227619, MANA-ER

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

25222742-25242225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25235523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 350 (S350P)

Ref Sequence

ENSEMBL: ENSMUSP00000036996 (fasta)

Gene Model

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

AlphaFold

A2AJ15

Predicted Effect

probably benign
Transcript: ENSMUST00000042390
AA Change: S350P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
AA Change: S350P

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

noncoding transcript
Transcript: ENSMUST00000126210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131826

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

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	possibly 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
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
R4472: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

Posted On

2014-05-07