Incidental Mutation 'R5428:Man2a1'
| ID |
427042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2a1
|
| Ensembl Gene |
ENSMUSG00000024085 |
| Gene Name |
mannosidase 2, alpha 1 |
| Synonyms |
Map-2, Mana-2, Mana2 |
| MMRRC Submission |
042994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R5428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64907731-65062105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65019295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 720
(I720V)
|
| 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: I720V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: I720V
| 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 |
0.0589 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (62/63) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
C |
18: 6,635,918 (GRCm39) |
V324L |
probably benign |
Het |
| Abl2 |
T |
C |
1: 156,469,681 (GRCm39) |
C982R |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,248,323 (GRCm39) |
C665Y |
probably damaging |
Het |
| Adra1d |
A |
G |
2: 131,403,323 (GRCm39) |
S256P |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,921,313 (GRCm39) |
Y194F |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,231,060 (GRCm39) |
D1150Y |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,387 (GRCm39) |
M1L |
possibly damaging |
Het |
| Colgalt1 |
G |
T |
8: 72,075,420 (GRCm39) |
R442L |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,406,705 (GRCm39) |
V14A |
unknown |
Het |
| Defa30 |
A |
G |
8: 21,625,419 (GRCm39) |
D61G |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,266,804 (GRCm39) |
C308S |
probably benign |
Het |
| Emc4 |
A |
G |
2: 112,197,700 (GRCm39) |
|
probably benign |
Het |
| Foxp1 |
A |
G |
6: 98,993,592 (GRCm39) |
V104A |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,328,824 (GRCm39) |
L1319R |
possibly damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gja10 |
T |
A |
4: 32,601,169 (GRCm39) |
H405L |
probably benign |
Het |
| Gm27047 |
A |
G |
6: 130,607,527 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
T |
A |
10: 10,595,307 (GRCm39) |
T774S |
probably damaging |
Het |
| Gtse1 |
A |
C |
15: 85,746,340 (GRCm39) |
D52A |
probably benign |
Het |
| Kctd17 |
T |
A |
15: 78,312,982 (GRCm39) |
F42Y |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,488,878 (GRCm39) |
K178E |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,376,125 (GRCm39) |
E175G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,278,661 (GRCm39) |
I5927T |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,191 (GRCm39) |
N935S |
probably benign |
Het |
| Map3k5 |
C |
T |
10: 19,899,399 (GRCm39) |
H219Y |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,884,787 (GRCm39) |
T314A |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,237,377 (GRCm39) |
V615A |
possibly damaging |
Het |
| Mcmbp |
C |
T |
7: 128,306,248 (GRCm39) |
V457I |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nacc1 |
T |
C |
8: 85,402,783 (GRCm39) |
I337V |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,359,780 (GRCm39) |
D1475G |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,457,137 (GRCm39) |
D392E |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,642,355 (GRCm39) |
T1297A |
possibly damaging |
Het |
| Plag1 |
C |
T |
4: 3,905,538 (GRCm39) |
V51I |
possibly damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,089,208 (GRCm39) |
E616K |
possibly damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,135,280 (GRCm39) |
M415V |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,176,414 (GRCm39) |
E1683K |
probably damaging |
Het |
| Rap2a |
T |
A |
14: 120,716,406 (GRCm39) |
F90I |
probably benign |
Het |
| Rcvrn |
A |
G |
11: 67,590,875 (GRCm39) |
E153G |
possibly damaging |
Het |
| Sharpin |
C |
A |
15: 76,234,866 (GRCm39) |
|
probably benign |
Het |
| Skil |
T |
A |
3: 31,151,647 (GRCm39) |
D56E |
probably benign |
Het |
| Slc22a18 |
G |
T |
7: 143,033,082 (GRCm39) |
G57W |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,788,406 (GRCm39) |
D154G |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,400,746 (GRCm39) |
N156K |
probably benign |
Het |
| Tcea1 |
A |
T |
1: 4,950,568 (GRCm39) |
|
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,261,755 (GRCm39) |
V611A |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,591,588 (GRCm39) |
M1V |
probably null |
Het |
| Tomm5 |
A |
T |
4: 45,106,689 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,736,620 (GRCm39) |
K1207R |
probably null |
Het |
| Ttn |
T |
C |
2: 76,591,448 (GRCm39) |
T12747A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,715,480 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
C |
10: 12,569,175 (GRCm39) |
D1147G |
probably benign |
Het |
| Vmn1r53 |
T |
C |
6: 90,200,395 (GRCm39) |
I310V |
probably benign |
Het |
| Washc4 |
A |
C |
10: 83,410,386 (GRCm39) |
D658A |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,077,003 (GRCm39) |
F1243L |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,784 (GRCm39) |
S605P |
probably benign |
Het |
| Zfy1 |
T |
G |
Y: 726,205 (GRCm39) |
H520P |
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 |
|
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'- ACTGAGGTGTGAACAACCTCAC -3'
(R):5'- GGCTGTCACAACGAATCAGAAC -3'
Sequencing Primer
(F):5'- GGTGTGAACAACCTCACTATGTTAC -3'
(R):5'- TGTCACAACGAATCAGAACATACCTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation