Incidental Mutation 'IGL03067:Man1b1'
| ID |
409732 |
| 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)
|
| Stock # |
IGL03067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25222742-25242225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25239344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 536
(Y536H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028332]
[ENSMUST00000042390]
|
| AlphaFold |
A2AJ15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028332
|
| SMART Domains |
Protein: ENSMUSP00000028332
Gene: ENSMUSG00000026958
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S28
|
48 |
475 |
2.3e-90 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042390
AA Change: Y536H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
AA Change: Y536H
| 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 |
noncoding transcript
Transcript: ENSMUST00000133253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144218
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,900,909 (GRCm39) |
D1162E |
probably benign |
Het |
| Abhd2 |
T |
C |
7: 79,009,782 (GRCm39) |
F386L |
probably benign |
Het |
| Adamts6 |
C |
T |
13: 104,433,783 (GRCm39) |
R71W |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,590,599 (GRCm39) |
Y4403C |
probably damaging |
Het |
| Aldoart1 |
A |
T |
4: 72,770,194 (GRCm39) |
C205S |
possibly damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,552,935 (GRCm39) |
A711S |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,124,794 (GRCm39) |
I496T |
probably benign |
Het |
| Cyp27a1 |
A |
G |
1: 74,771,068 (GRCm39) |
|
probably null |
Het |
| Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
| Dpy19l1 |
A |
G |
9: 24,349,956 (GRCm39) |
V428A |
probably benign |
Het |
| Foxk2 |
C |
T |
11: 121,176,394 (GRCm39) |
T180M |
possibly damaging |
Het |
| Gm3402 |
C |
A |
5: 146,451,399 (GRCm39) |
H86N |
possibly damaging |
Het |
| Gm3543 |
A |
G |
14: 41,802,830 (GRCm39) |
|
probably benign |
Het |
| Gnai3 |
T |
C |
3: 108,025,609 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,236,642 (GRCm39) |
P395L |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,226,339 (GRCm39) |
I2445V |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,167,157 (GRCm39) |
T465A |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,226,680 (GRCm39) |
L1322F |
probably damaging |
Het |
| P3h1 |
A |
G |
4: 119,092,477 (GRCm39) |
H170R |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,648,038 (GRCm39) |
T59S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,676,878 (GRCm39) |
V1030A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,388,628 (GRCm39) |
|
probably null |
Het |
| Pilra |
T |
C |
5: 137,821,843 (GRCm39) |
Y264C |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,067,910 (GRCm39) |
V1799A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,284,238 (GRCm39) |
S649P |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,159,413 (GRCm39) |
M426V |
probably damaging |
Het |
| Rpl9 |
A |
G |
5: 65,548,191 (GRCm39) |
I18T |
possibly damaging |
Het |
| Slc6a19 |
C |
A |
13: 73,837,849 (GRCm39) |
E217* |
probably null |
Het |
| Smtn |
C |
A |
11: 3,480,165 (GRCm39) |
R352L |
possibly damaging |
Het |
| Supv3l1 |
C |
A |
10: 62,265,600 (GRCm39) |
D647Y |
probably damaging |
Het |
| Sv2a |
A |
G |
3: 96,092,498 (GRCm39) |
Y66C |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,605,272 (GRCm39) |
I107T |
probably damaging |
Het |
| Yif1a |
T |
C |
19: 5,139,813 (GRCm39) |
V86A |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,801 (GRCm39) |
T176A |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation