Incidental Mutation 'R6164:Man2a1'
| ID |
490074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2a1
|
| Ensembl Gene |
ENSMUSG00000024085 |
| Gene Name |
mannosidase 2, alpha 1 |
| Synonyms |
Map-2, Mana-2, Mana2 |
| MMRRC Submission |
044310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R6164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64907731-65062105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65040719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 106
(I106V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086723]
[ENSMUST00000169668]
|
| AlphaFold |
P27046 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086723
AA Change: I902V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: I902V
| 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 |
possibly damaging
Transcript: ENSMUST00000169668
AA Change: I106V
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130529
Gene: ENSMUSG00000024085
AA Change: I106V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_38C
|
1 |
268 |
1.6e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.1498 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (61/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
A |
G |
7: 79,491,953 (GRCm39) |
I16T |
possibly damaging |
Het |
| Ap1s1 |
T |
C |
5: 137,066,240 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,106,459 (GRCm39) |
S848G |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,608,389 (GRCm39) |
I346F |
possibly damaging |
Het |
| Ccdc148 |
T |
A |
2: 58,713,645 (GRCm39) |
Y502F |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,919,642 (GRCm39) |
M416V |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,071,331 (GRCm39) |
S351P |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,392,768 (GRCm39) |
E114G |
probably benign |
Het |
| Clec4a4 |
T |
C |
6: 122,968,833 (GRCm39) |
I66T |
possibly damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,870,584 (GRCm39) |
|
probably null |
Het |
| Cybrd1 |
T |
C |
2: 70,948,618 (GRCm39) |
V52A |
probably damaging |
Het |
| Decr1 |
G |
A |
4: 15,924,347 (GRCm39) |
A191V |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,378,489 (GRCm39) |
I2942L |
probably benign |
Het |
| Ehd4 |
C |
T |
2: 119,932,689 (GRCm39) |
V246I |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,020,158 (GRCm39) |
|
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,309,218 (GRCm39) |
M280K |
probably damaging |
Het |
| Fmo1 |
T |
G |
1: 162,678,979 (GRCm39) |
E89A |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,350,898 (GRCm39) |
D733G |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,773,677 (GRCm39) |
T73A |
probably damaging |
Het |
| Gulp1 |
A |
C |
1: 44,793,511 (GRCm39) |
R57S |
probably damaging |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
| Hdac4 |
G |
T |
1: 91,957,876 (GRCm39) |
A46E |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,241,966 (GRCm39) |
S567P |
possibly damaging |
Het |
| Insyn1 |
C |
A |
9: 58,406,530 (GRCm39) |
P147T |
probably damaging |
Het |
| Iqgap1 |
A |
C |
7: 80,458,854 (GRCm39) |
C21W |
unknown |
Het |
| Isoc2a |
T |
C |
7: 4,894,488 (GRCm39) |
L57P |
probably damaging |
Het |
| Krt34 |
G |
A |
11: 99,929,272 (GRCm39) |
Q313* |
probably null |
Het |
| Krt6a |
C |
T |
15: 101,601,008 (GRCm39) |
V263I |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,469,675 (GRCm39) |
D7300G |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,417,082 (GRCm39) |
S3343C |
possibly damaging |
Het |
| Mup11 |
C |
T |
4: 60,618,239 (GRCm39) |
E21K |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,075,754 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,095,507 (GRCm39) |
L795P |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,548,220 (GRCm39) |
Y984* |
probably null |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or2d3 |
G |
T |
7: 106,491,135 (GRCm39) |
Y60* |
probably null |
Het |
| Or5p52 |
A |
G |
7: 107,502,595 (GRCm39) |
T224A |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,889,833 (GRCm39) |
V5A |
probably benign |
Het |
| Pabir1 |
T |
A |
19: 24,454,450 (GRCm39) |
M91L |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,814,317 (GRCm39) |
|
probably null |
Het |
| Pex11a |
G |
A |
7: 79,387,127 (GRCm39) |
T235M |
probably damaging |
Het |
| Pik3r6 |
A |
G |
11: 68,442,799 (GRCm39) |
T730A |
probably benign |
Het |
| Ppp1r9a |
C |
T |
6: 5,110,715 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
T |
C |
7: 138,474,742 (GRCm39) |
I41T |
probably damaging |
Het |
| Prdm1 |
C |
T |
10: 44,326,191 (GRCm39) |
R126H |
probably damaging |
Het |
| Primpol |
C |
T |
8: 47,039,477 (GRCm39) |
R381H |
probably benign |
Het |
| Prl7a1 |
C |
A |
13: 27,821,626 (GRCm39) |
Q102H |
probably benign |
Het |
| Rbpjl |
T |
C |
2: 164,252,799 (GRCm39) |
L284P |
probably damaging |
Het |
| Rgs21 |
A |
T |
1: 144,417,035 (GRCm39) |
C6S |
probably benign |
Het |
| Rnasel |
T |
C |
1: 153,630,138 (GRCm39) |
V218A |
probably benign |
Het |
| Sag |
G |
T |
1: 87,752,175 (GRCm39) |
V223L |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,117,824 (GRCm39) |
T1574M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,833,896 (GRCm39) |
V679M |
probably damaging |
Het |
| Sele |
T |
A |
1: 163,879,386 (GRCm39) |
|
probably null |
Het |
| Senp7 |
T |
A |
16: 55,990,117 (GRCm39) |
L622M |
probably damaging |
Het |
| Sgo1 |
G |
A |
17: 53,983,981 (GRCm39) |
R466C |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,863,590 (GRCm39) |
V866L |
probably benign |
Het |
| Snrnp25 |
T |
A |
11: 32,157,647 (GRCm39) |
V75D |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,011,429 (GRCm39) |
C7899Y |
probably damaging |
Het |
| U2af1l4 |
T |
C |
7: 30,264,007 (GRCm39) |
S55P |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,040 (GRCm39) |
I246T |
possibly damaging |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,329 (GRCm39) |
R235* |
probably null |
Het |
| Wnk4 |
C |
T |
11: 101,165,894 (GRCm39) |
A807V |
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 |
|
R2852:Man2a1
|
UTSW |
17 |
65,020,596 (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 |
|
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'- AAATTGTCTTCTGAGGGCCTTG -3'
(R):5'- CAGAAATGCTATGTAGTTCGAACTG -3'
Sequencing Primer
(F):5'- CCTTGTGGTTTCTCTGCATATG -3'
(R):5'- TCGAACTGCGAGCTTTCG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation