Incidental Mutation 'R9488:Man2a1'
ID |
716777 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2a1
|
Ensembl Gene |
ENSMUSG00000024085 |
Gene Name |
mannosidase 2, alpha 1 |
Synonyms |
Map-2, Mana-2, Mana2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R9488 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
64907731-65062105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65040734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 907
(T907A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086723]
[ENSMUST00000169668]
|
AlphaFold |
P27046 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086723
AA Change: T907A
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000083928 Gene: ENSMUSG00000024085 AA Change: T907A
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 |
probably damaging
Transcript: ENSMUST00000169668
AA Change: T111A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130529 Gene: ENSMUSG00000024085 AA Change: T111A
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_38C
|
1 |
268 |
1.6e-50 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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 |
4930433I11Rik |
A |
T |
7: 40,643,212 (GRCm39) |
I294L |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,589,343 (GRCm39) |
K187N |
probably damaging |
Het |
Arhgap40 |
C |
T |
2: 158,391,571 (GRCm39) |
T631M |
possibly damaging |
Het |
Arpin |
T |
C |
7: 79,584,979 (GRCm39) |
Y5C |
probably damaging |
Het |
B020011L13Rik |
A |
G |
1: 117,728,724 (GRCm39) |
Y77C |
|
Het |
Cdk17 |
A |
G |
10: 93,044,066 (GRCm39) |
K2E |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,049,260 (GRCm39) |
F86L |
probably benign |
Het |
Cfap418 |
A |
G |
4: 10,893,271 (GRCm39) |
D130G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,659,532 (GRCm39) |
T775A |
probably damaging |
Het |
Clvs2 |
T |
A |
10: 33,389,301 (GRCm39) |
D313V |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,741,788 (GRCm39) |
Y2377C |
probably damaging |
Het |
Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,377,218 (GRCm39) |
R1668G |
probably benign |
Het |
Eif2d |
T |
A |
1: 131,082,962 (GRCm39) |
V102E |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,631,337 (GRCm39) |
V210A |
probably damaging |
Het |
Galntl5 |
A |
G |
5: 25,415,437 (GRCm39) |
R323G |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,904,533 (GRCm39) |
T129A |
probably benign |
Het |
Gm572 |
A |
G |
4: 148,752,913 (GRCm39) |
H264R |
possibly damaging |
Het |
Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
Ighv7-4 |
T |
C |
12: 114,186,619 (GRCm39) |
Y51C |
probably damaging |
Het |
Irag2 |
G |
A |
6: 145,113,753 (GRCm39) |
R307Q |
probably damaging |
Het |
Jam2 |
A |
G |
16: 84,619,676 (GRCm39) |
D289G |
probably damaging |
Het |
Krt27 |
A |
G |
11: 99,239,535 (GRCm39) |
|
probably null |
Het |
Lama5 |
T |
C |
2: 179,823,234 (GRCm39) |
N2704S |
possibly damaging |
Het |
Lhx8 |
A |
T |
3: 154,033,764 (GRCm39) |
S70T |
possibly damaging |
Het |
Lmo7 |
C |
A |
14: 102,122,783 (GRCm39) |
T324N |
possibly damaging |
Het |
Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
Mga |
C |
T |
2: 119,795,304 (GRCm39) |
A2996V |
possibly damaging |
Het |
Mybpc1 |
A |
T |
10: 88,379,624 (GRCm39) |
M625K |
possibly damaging |
Het |
Ncald |
T |
A |
15: 37,372,369 (GRCm39) |
N159Y |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,527,866 (GRCm39) |
T832A |
possibly damaging |
Het |
P2rx5 |
T |
A |
11: 73,056,427 (GRCm39) |
I117N |
|
Het |
Pcdhb3 |
C |
A |
18: 37,435,416 (GRCm39) |
R461S |
possibly damaging |
Het |
Polr1b |
T |
C |
2: 128,967,417 (GRCm39) |
S937P |
probably damaging |
Het |
Prep |
C |
A |
10: 44,996,807 (GRCm39) |
Q362K |
|
Het |
Prg4 |
T |
C |
1: 150,327,024 (GRCm39) |
M342V |
probably benign |
Het |
Prr14 |
A |
T |
7: 127,073,687 (GRCm39) |
T184S |
possibly damaging |
Het |
Prss58 |
A |
G |
6: 40,874,382 (GRCm39) |
I98T |
probably benign |
Het |
Pum3 |
T |
C |
19: 27,394,188 (GRCm39) |
T361A |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Sema4c |
A |
G |
1: 36,591,067 (GRCm39) |
V424A |
probably benign |
Het |
Sema6a |
A |
T |
18: 47,437,216 (GRCm39) |
I58N |
probably damaging |
Het |
Slc13a3 |
T |
A |
2: 165,250,851 (GRCm39) |
Y506F |
probably damaging |
Het |
Slc15a2 |
A |
G |
16: 36,579,651 (GRCm39) |
V365A |
probably benign |
Het |
Slc39a5 |
G |
A |
10: 128,233,628 (GRCm39) |
L290F |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,850,560 (GRCm39) |
V532A |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,759,436 (GRCm39) |
T161A |
probably benign |
Het |
Tbl2 |
T |
A |
5: 135,187,471 (GRCm39) |
C243S |
probably benign |
Het |
Tet2 |
A |
T |
3: 133,193,103 (GRCm39) |
S444T |
probably benign |
Het |
Thoc1 |
C |
T |
18: 9,992,168 (GRCm39) |
L499F |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,913,942 (GRCm39) |
V1290A |
probably damaging |
Het |
Tnpo1 |
T |
C |
13: 98,990,003 (GRCm39) |
D716G |
probably damaging |
Het |
Tpp2 |
A |
T |
1: 44,041,272 (GRCm39) |
K1236N |
probably benign |
Het |
Tshr |
T |
C |
12: 91,504,589 (GRCm39) |
V509A |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,356,535 (GRCm39) |
T775A |
|
Het |
Ubap2l |
T |
C |
3: 89,928,656 (GRCm39) |
T486A |
probably benign |
Het |
Usp28 |
C |
A |
9: 48,935,288 (GRCm39) |
P457T |
probably damaging |
Het |
Usp44 |
A |
G |
10: 93,682,851 (GRCm39) |
I387V |
possibly damaging |
Het |
Vmn1r225 |
A |
G |
17: 20,722,793 (GRCm39) |
D78G |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,447,880 (GRCm39) |
M537T |
possibly damaging |
Het |
Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
Zfp1005 |
G |
A |
2: 150,110,477 (GRCm39) |
G389D |
unknown |
Het |
Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
probably benign |
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 |
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 |
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'- CCACAGAAATGCTATGTAGTTCGAAC -3'
Sequencing Primer
(F):5'- CCTTGTGGTTTCTCTGCATATG -3'
(R):5'- TCGAACTGCGAGCTTTCG -3'
|
Posted On |
2022-07-18 |