Incidental Mutation 'IGL03063:Man1b1'
| ID |
409559 |
| 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 # |
IGL03063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25222742-25242225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25224416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 102
(E102G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042390]
[ENSMUST00000136245]
|
| AlphaFold |
A2AJ15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042390
AA Change: E85G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
AA Change: E85G
| 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: ENSMUST00000131826
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136245
AA Change: E102G
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114989
Gene: ENSMUSG00000036646
AA Change: E102G
| 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
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
| Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
| Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
| Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
| Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
| Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
| Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
| Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
| Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
| Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
| Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
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 |
|
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 |
2016-08-02 |
Incidental Mutation