Incidental Mutation 'R2852:Man2a1'
| ID |
252350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2a1
|
| Ensembl Gene |
ENSMUSG00000024085 |
| Gene Name |
mannosidase 2, alpha 1 |
| Synonyms |
Map-2, Mana-2, Mana2 |
| MMRRC Submission |
040445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R2852 (G1)
|
| Quality Score |
155 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64907731-65062105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65020596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 791
(K791E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086723]
[ENSMUST00000169668]
|
| AlphaFold |
P27046 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086723
AA Change: K791E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: K791E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
45 |
74 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
166 |
496 |
2.3e-111 |
PFAM |
|
Alpha-mann_mid
|
501 |
587 |
5.39e-34 |
SMART |
|
Pfam:Glyco_hydro_38C
|
648 |
1144 |
1.5e-98 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169239
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169668
|
| SMART Domains |
Protein: ENSMUSP00000130529
Gene: ENSMUSG00000024085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_38C
|
1 |
268 |
1.6e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria, [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
| Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
| Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
| Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
| Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
| Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
| Pah |
T |
A |
10: 87,403,327 (GRCm39) |
L131Q |
probably damaging |
Het |
| Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
| Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
| Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
| Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,476 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
| Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
| Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
| Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
| Other mutations in Man2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01390:Man2a1
|
APN |
17 |
65,017,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01823:Man2a1
|
APN |
17 |
64,973,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02012:Man2a1
|
APN |
17 |
64,973,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02589:Man2a1
|
APN |
17 |
64,986,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03248:Man2a1
|
APN |
17 |
65,020,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Man2a1
|
UTSW |
17 |
64,966,074 (GRCm39) |
splice site |
probably null |
|
|
R0092:Man2a1
|
UTSW |
17 |
64,966,079 (GRCm39) |
splice site |
probably benign |
|
|
R1347:Man2a1
|
UTSW |
17 |
65,019,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1347:Man2a1
|
UTSW |
17 |
65,019,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1376:Man2a1
|
UTSW |
17 |
64,979,038 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1376:Man2a1
|
UTSW |
17 |
64,979,038 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1599:Man2a1
|
UTSW |
17 |
64,986,826 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1799:Man2a1
|
UTSW |
17 |
65,059,452 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1799:Man2a1
|
UTSW |
17 |
64,976,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Man2a1
|
UTSW |
17 |
65,047,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Man2a1
|
UTSW |
17 |
65,057,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4324:Man2a1
|
UTSW |
17 |
64,973,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4582:Man2a1
|
UTSW |
17 |
65,059,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4610:Man2a1
|
UTSW |
17 |
65,019,454 (GRCm39) |
missense |
probably benign |
|
|
R4803:Man2a1
|
UTSW |
17 |
64,966,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Man2a1
|
UTSW |
17 |
64,966,074 (GRCm39) |
splice site |
probably null |
|
|
R5109:Man2a1
|
UTSW |
17 |
65,059,443 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5223:Man2a1
|
UTSW |
17 |
65,019,266 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5229:Man2a1
|
UTSW |
17 |
65,017,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5238:Man2a1
|
UTSW |
17 |
64,943,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Man2a1
|
UTSW |
17 |
65,040,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Man2a1
|
UTSW |
17 |
64,958,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5352:Man2a1
|
UTSW |
17 |
65,038,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5428:Man2a1
|
UTSW |
17 |
65,019,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5898:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5942:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5943:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5963:Man2a1
|
UTSW |
17 |
64,982,117 (GRCm39) |
missense |
probably benign |
|
|
R5969:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5970:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6164:Man2a1
|
UTSW |
17 |
65,040,719 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6207:Man2a1
|
UTSW |
17 |
65,020,600 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6245:Man2a1
|
UTSW |
17 |
65,017,821 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6724:Man2a1
|
UTSW |
17 |
65,038,264 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6759:Man2a1
|
UTSW |
17 |
64,932,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6778:Man2a1
|
UTSW |
17 |
65,021,630 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7250:Man2a1
|
UTSW |
17 |
64,943,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7354:Man2a1
|
UTSW |
17 |
65,059,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Man2a1
|
UTSW |
17 |
64,973,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7991:Man2a1
|
UTSW |
17 |
64,908,771 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8489:Man2a1
|
UTSW |
17 |
64,908,765 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8540:Man2a1
|
UTSW |
17 |
64,965,982 (GRCm39) |
missense |
probably benign |
|
|
R8894:Man2a1
|
UTSW |
17 |
65,020,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9447:Man2a1
|
UTSW |
17 |
64,966,001 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9488:Man2a1
|
UTSW |
17 |
65,040,734 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9526:Man2a1
|
UTSW |
17 |
64,958,310 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9608:Man2a1
|
UTSW |
17 |
65,041,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Man2a1
|
UTSW |
17 |
64,943,557 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
RF007:Man2a1
|
UTSW |
17 |
65,019,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Man2a1
|
UTSW |
17 |
65,042,049 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Man2a1
|
UTSW |
17 |
64,966,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCCAGGTAGATTTTATTGTCC -3'
(R):5'- AGTCTCACCACTGTGCATG -3'
Sequencing Primer
(F):5'- TTCACAGTCCCGTGTTCA -3'
(R):5'- CAGTTCCAGTACACATGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation