Incidental Mutation 'R6608:Man1b1'
ID |
526410 |
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 |
044731-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6608 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25222742-25242225 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25233263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 212
(V212E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042390]
[ENSMUST00000136245]
|
AlphaFold |
A2AJ15 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042390
AA Change: V212E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036996 Gene: ENSMUSG00000036646 AA Change: V212E
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 damaging
Transcript: ENSMUST00000136245
AA Change: V229E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114989 Gene: ENSMUSG00000036646 AA Change: V229E
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: ENSMUST00000157546
|
Meta Mutation Damage Score |
0.9272 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
98% (43/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
C |
5: 121,770,555 (GRCm39) |
T571A |
probably benign |
Het |
Adamts18 |
A |
T |
8: 114,501,911 (GRCm39) |
Y317N |
probably damaging |
Het |
Adgrg5 |
T |
C |
8: 95,668,348 (GRCm39) |
F470S |
probably damaging |
Het |
AK157302 |
T |
C |
13: 21,679,794 (GRCm39) |
S107P |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,969,288 (GRCm39) |
Y975C |
probably damaging |
Het |
Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
C |
1: 58,096,705 (GRCm39) |
Y267H |
probably benign |
Het |
Cdan1 |
A |
C |
2: 120,557,161 (GRCm39) |
I555R |
possibly damaging |
Het |
Clns1a |
A |
G |
7: 97,365,675 (GRCm39) |
T226A |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,948,628 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
C |
A |
9: 20,685,315 (GRCm39) |
V1454L |
unknown |
Het |
Coq6 |
G |
A |
12: 84,418,922 (GRCm39) |
V309I |
probably benign |
Het |
Decr2 |
C |
T |
17: 26,302,858 (GRCm39) |
V173M |
probably benign |
Het |
Dmgdh |
G |
A |
13: 93,843,252 (GRCm39) |
G363S |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,564,277 (GRCm39) |
D1927E |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Epm2a |
T |
C |
10: 11,266,731 (GRCm39) |
|
probably null |
Het |
Gm1979 |
T |
A |
5: 26,206,094 (GRCm39) |
H162L |
probably benign |
Het |
Irag1 |
A |
T |
7: 110,487,758 (GRCm39) |
S486T |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,917,093 (GRCm39) |
N1759D |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,950,578 (GRCm39) |
L936S |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,300,090 (GRCm39) |
T1648I |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,370 (GRCm39) |
V78A |
probably damaging |
Het |
Or3a1b |
T |
C |
11: 74,012,454 (GRCm39) |
V113A |
probably benign |
Het |
Or5d40 |
A |
G |
2: 88,016,049 (GRCm39) |
Y276C |
possibly damaging |
Het |
Or6n2 |
A |
G |
1: 173,897,295 (GRCm39) |
M144V |
probably benign |
Het |
Parp11 |
A |
G |
6: 127,454,811 (GRCm39) |
I110V |
possibly damaging |
Het |
Pcdhb5 |
A |
G |
18: 37,454,876 (GRCm39) |
T419A |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,160,875 (GRCm39) |
D838G |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,389,934 (GRCm39) |
N230I |
probably damaging |
Het |
Rnf20 |
C |
T |
4: 49,650,051 (GRCm39) |
S540F |
probably benign |
Het |
Rsad1 |
T |
C |
11: 94,433,435 (GRCm39) |
D417G |
probably damaging |
Het |
Serpina3c |
A |
T |
12: 104,115,883 (GRCm39) |
N220K |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,832,091 (GRCm39) |
L495P |
probably damaging |
Het |
Stard7 |
A |
T |
2: 127,132,715 (GRCm39) |
K194N |
probably damaging |
Het |
Tinagl1 |
A |
G |
4: 130,066,782 (GRCm39) |
M105T |
probably benign |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
Usp10 |
C |
T |
8: 120,675,161 (GRCm39) |
R461W |
probably benign |
Het |
Wsb1 |
C |
T |
11: 79,131,188 (GRCm39) |
E403K |
probably benign |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
Zp1 |
C |
T |
19: 10,896,344 (GRCm39) |
C127Y |
possibly damaging |
Het |
Zzef1 |
T |
A |
11: 72,803,652 (GRCm39) |
F2466L |
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 |
|
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 |
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'- GTCTAACCTGTGCTTTGGCC -3'
(R):5'- CACATGCTGCTTCGGCTTAC -3'
Sequencing Primer
(F):5'- TAACCTGTGCTTTGGCCTCCTG -3'
(R):5'- ACACATGGAAACCCAGTCC -3'
|
Posted On |
2018-06-25 |