Incidental Mutation 'R5942:Man2a1'
ID |
460378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2a1
|
Ensembl Gene |
ENSMUSG00000024085 |
Gene Name |
mannosidase 2, alpha 1 |
Synonyms |
Map-2, Mana-2, Mana2 |
MMRRC Submission |
044134-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R5942 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
64907731-65062105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64932375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 154
(K154R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086723]
|
AlphaFold |
P27046 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086723
AA Change: K154R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000083928 Gene: ENSMUSG00000024085 AA Change: K154R
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.7%
- 20x: 89.5%
|
Validation Efficiency |
|
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 |
Abcc10 |
C |
T |
17: 46,623,333 (GRCm39) |
V860M |
probably benign |
Het |
Accs |
A |
T |
2: 93,666,392 (GRCm39) |
L432M |
probably damaging |
Het |
Actrt3 |
T |
A |
3: 30,652,813 (GRCm39) |
N94Y |
possibly damaging |
Het |
Adamts18 |
T |
C |
8: 114,504,380 (GRCm39) |
Q80R |
probably benign |
Het |
Ccr8 |
G |
T |
9: 119,923,772 (GRCm39) |
V296F |
probably damaging |
Het |
Cep170 |
T |
A |
1: 176,583,985 (GRCm39) |
E798V |
probably damaging |
Het |
Cttnbp2 |
T |
A |
6: 18,448,439 (GRCm39) |
E73D |
probably damaging |
Het |
Cyp2a4 |
A |
T |
7: 26,010,129 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,117,466 (GRCm39) |
Y41* |
probably null |
Het |
Enc1 |
G |
A |
13: 97,382,887 (GRCm39) |
D466N |
probably benign |
Het |
Enpp1 |
C |
A |
10: 24,551,966 (GRCm39) |
E138* |
probably null |
Het |
Entrep1 |
A |
G |
19: 23,963,834 (GRCm39) |
V245A |
probably damaging |
Het |
Ezh2 |
T |
C |
6: 47,554,516 (GRCm39) |
R27G |
possibly damaging |
Het |
Fut10 |
A |
G |
8: 31,691,485 (GRCm39) |
N110S |
possibly damaging |
Het |
Glt1d1 |
A |
T |
5: 127,721,534 (GRCm39) |
|
probably null |
Het |
Gm14393 |
G |
A |
2: 174,903,689 (GRCm39) |
Q73* |
probably null |
Het |
Gpr156 |
C |
T |
16: 37,825,264 (GRCm39) |
P494S |
probably benign |
Het |
Has2 |
T |
A |
15: 56,531,192 (GRCm39) |
K508* |
probably null |
Het |
Hc |
A |
T |
2: 34,918,137 (GRCm39) |
C715* |
probably null |
Het |
Hook2 |
C |
T |
8: 85,721,409 (GRCm39) |
|
probably null |
Het |
Klhdc7b |
A |
C |
15: 89,271,634 (GRCm39) |
I839L |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,516,792 (GRCm39) |
L1584P |
probably damaging |
Het |
Lamp1 |
T |
C |
8: 13,223,941 (GRCm39) |
F358L |
probably damaging |
Het |
Mga |
A |
G |
2: 119,777,440 (GRCm39) |
I1871V |
probably benign |
Het |
Mgmt |
T |
A |
7: 136,723,219 (GRCm39) |
D96E |
probably benign |
Het |
Morc2a |
C |
A |
11: 3,629,936 (GRCm39) |
T424K |
probably damaging |
Het |
Myo1g |
A |
G |
11: 6,464,888 (GRCm39) |
L462P |
probably damaging |
Het |
Ncaph |
C |
A |
2: 126,958,608 (GRCm39) |
|
probably null |
Het |
Nlrc3 |
A |
T |
16: 3,767,293 (GRCm39) |
D969E |
probably damaging |
Het |
Nt5c3 |
A |
T |
6: 56,874,839 (GRCm39) |
|
probably null |
Het |
Or4c12b |
G |
T |
2: 89,646,684 (GRCm39) |
E5* |
probably null |
Het |
Or5ac15 |
A |
T |
16: 58,940,039 (GRCm39) |
Y131* |
probably null |
Het |
Or5d41 |
A |
C |
2: 88,054,916 (GRCm39) |
I153M |
probably benign |
Het |
Or8h8 |
T |
C |
2: 86,753,750 (GRCm39) |
N42S |
probably damaging |
Het |
Parp14 |
C |
A |
16: 35,659,737 (GRCm39) |
M1628I |
probably damaging |
Het |
Parp8 |
G |
T |
13: 117,005,969 (GRCm39) |
P693Q |
probably benign |
Het |
Parp9 |
A |
G |
16: 35,792,259 (GRCm39) |
D485G |
possibly damaging |
Het |
Pcdha1 |
T |
A |
18: 37,063,444 (GRCm39) |
V36D |
probably damaging |
Het |
Pcdhb5 |
C |
T |
18: 37,453,838 (GRCm39) |
Q73* |
probably null |
Het |
Pecam1 |
G |
T |
11: 106,552,809 (GRCm39) |
|
probably benign |
Het |
Pex1 |
A |
G |
5: 3,660,277 (GRCm39) |
I527V |
probably benign |
Het |
Phf11 |
G |
A |
14: 59,497,593 (GRCm39) |
P13S |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,553,706 (GRCm39) |
V388D |
possibly damaging |
Het |
Psmc4 |
C |
T |
7: 27,746,480 (GRCm39) |
V202I |
probably damaging |
Het |
Ptx3 |
T |
G |
3: 66,127,484 (GRCm39) |
M1R |
probably null |
Het |
Rimbp3 |
A |
G |
16: 17,029,752 (GRCm39) |
T1059A |
probably benign |
Het |
Rmdn3 |
G |
A |
2: 118,978,058 (GRCm39) |
A181V |
probably damaging |
Het |
Rnase10 |
A |
T |
14: 51,246,735 (GRCm39) |
M38L |
probably benign |
Het |
Sec16b |
T |
A |
1: 157,358,920 (GRCm39) |
Y118N |
probably damaging |
Het |
Sigmar1 |
T |
C |
4: 41,741,159 (GRCm39) |
T32A |
probably benign |
Het |
Srcap |
A |
G |
7: 127,137,180 (GRCm39) |
D954G |
probably damaging |
Het |
Tfrc |
A |
G |
16: 32,445,533 (GRCm39) |
N618S |
possibly damaging |
Het |
Tnrc6a |
A |
G |
7: 122,785,888 (GRCm39) |
D1028G |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,385,860 (GRCm39) |
D1379E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,580,505 (GRCm39) |
C23463S |
possibly damaging |
Het |
Ufl1 |
T |
C |
4: 25,250,619 (GRCm39) |
T745A |
probably benign |
Het |
Vmn1r231 |
T |
A |
17: 21,110,417 (GRCm39) |
Y166F |
possibly damaging |
Het |
Wbp1l |
C |
A |
19: 46,642,869 (GRCm39) |
T290K |
probably damaging |
Het |
Wdr25 |
A |
G |
12: 108,864,392 (GRCm39) |
N179S |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,942,504 (GRCm39) |
Q1035* |
probably null |
Het |
Yif1a |
C |
T |
19: 5,141,669 (GRCm39) |
R196C |
probably damaging |
Het |
Zfp352 |
A |
T |
4: 90,113,307 (GRCm39) |
K482N |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably 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 |
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'- AGCCTTCCAAGCCTTTGAGTG -3'
(R):5'- TCATGGTGAAGTCTGAGAGGC -3'
Sequencing Primer
(F):5'- GCCTTTGGCCTAAAAAGTTTCCATTG -3'
(R):5'- TGAAGTCTGAGAGGCATGGGC -3'
|
Posted On |
2017-02-28 |