Incidental Mutation 'R5229:Man2a1'
ID |
403686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2a1
|
Ensembl Gene |
ENSMUSG00000024085 |
Gene Name |
mannosidase 2, alpha 1 |
Synonyms |
Map-2, Mana-2, Mana2 |
MMRRC Submission |
042802-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R5229 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
64907731-65062105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65017729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 658
(Q658H)
|
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: Q658H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000083928 Gene: ENSMUSG00000024085 AA Change: Q658H
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 |
0.2168 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930444P10Rik |
T |
C |
1: 16,151,183 (GRCm39) |
|
probably benign |
Het |
4930562C15Rik |
A |
G |
16: 4,667,915 (GRCm39) |
I435M |
possibly damaging |
Het |
Adcy5 |
A |
G |
16: 35,089,440 (GRCm39) |
I546V |
probably damaging |
Het |
Apob |
A |
G |
12: 8,027,806 (GRCm39) |
T10A |
probably benign |
Het |
Brwd1 |
C |
A |
16: 95,803,409 (GRCm39) |
D2254Y |
possibly damaging |
Het |
Bub1b |
C |
A |
2: 118,460,470 (GRCm39) |
D600E |
probably damaging |
Het |
Cnga1 |
A |
G |
5: 72,766,843 (GRCm39) |
S199P |
probably damaging |
Het |
Cyp3a11 |
G |
T |
5: 145,791,945 (GRCm39) |
L483I |
probably benign |
Het |
Depp1 |
T |
C |
6: 116,628,992 (GRCm39) |
S112P |
possibly damaging |
Het |
Dpysl3 |
C |
A |
18: 43,466,016 (GRCm39) |
G457V |
probably damaging |
Het |
Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
Epb41 |
C |
A |
4: 131,706,246 (GRCm39) |
G415C |
probably damaging |
Het |
Erap1 |
G |
A |
13: 74,808,494 (GRCm39) |
V69M |
possibly damaging |
Het |
F2 |
A |
T |
2: 91,460,586 (GRCm39) |
Y301* |
probably null |
Het |
F2rl2 |
A |
T |
13: 95,837,195 (GRCm39) |
N80I |
possibly damaging |
Het |
Fam237b |
A |
T |
5: 5,625,565 (GRCm39) |
Y87F |
possibly damaging |
Het |
Gm15446 |
T |
G |
5: 110,091,036 (GRCm39) |
H429Q |
probably damaging |
Het |
Gpat3 |
G |
A |
5: 101,031,290 (GRCm39) |
G148D |
probably damaging |
Het |
Gpr26 |
A |
T |
7: 131,585,976 (GRCm39) |
R315S |
probably damaging |
Het |
Hdac9 |
A |
C |
12: 34,487,163 (GRCm39) |
H100Q |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 51,994,761 (GRCm39) |
V457D |
probably benign |
Het |
Igkv10-96 |
A |
G |
6: 68,609,223 (GRCm39) |
M24T |
possibly damaging |
Het |
Igkv2-95-2 |
A |
G |
6: 68,625,095 (GRCm39) |
|
noncoding transcript |
Het |
Kdm4a |
G |
A |
4: 118,003,802 (GRCm39) |
S758F |
probably damaging |
Het |
Lrg1 |
A |
G |
17: 56,427,154 (GRCm39) |
W273R |
probably damaging |
Het |
Mapkapk5 |
T |
C |
5: 121,671,454 (GRCm39) |
|
probably null |
Het |
Mcm6 |
T |
C |
1: 128,261,321 (GRCm39) |
D761G |
possibly damaging |
Het |
Myh8 |
A |
T |
11: 67,175,310 (GRCm39) |
Y286F |
probably damaging |
Het |
Nbn |
C |
T |
4: 15,963,893 (GRCm39) |
T98I |
probably damaging |
Het |
Nrdc |
T |
C |
4: 108,906,305 (GRCm39) |
S685P |
probably damaging |
Het |
Nudcd3 |
A |
G |
11: 6,143,238 (GRCm39) |
V80A |
probably benign |
Het |
Or10al5 |
A |
G |
17: 38,063,192 (GRCm39) |
H149R |
probably benign |
Het |
Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,507,401 (GRCm39) |
M390K |
probably damaging |
Het |
Pon1 |
C |
T |
6: 5,177,295 (GRCm39) |
V205I |
possibly damaging |
Het |
Ppp4r2 |
C |
A |
6: 100,842,176 (GRCm39) |
H212Q |
probably benign |
Het |
Pramel32 |
T |
C |
4: 88,548,372 (GRCm39) |
D11G |
possibly damaging |
Het |
Prl2c5 |
G |
A |
13: 13,360,441 (GRCm39) |
C33Y |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,159,917 (GRCm39) |
F379L |
probably damaging |
Het |
Rcc2 |
G |
A |
4: 140,444,340 (GRCm39) |
D344N |
probably damaging |
Het |
Rgs3 |
T |
C |
4: 62,620,424 (GRCm39) |
L550P |
probably damaging |
Het |
Rnasek |
A |
T |
11: 70,130,486 (GRCm39) |
M25K |
probably damaging |
Het |
Scgb1b24 |
A |
T |
7: 33,443,520 (GRCm39) |
T60S |
possibly damaging |
Het |
Scn5a |
A |
G |
9: 119,365,042 (GRCm39) |
F392S |
probably damaging |
Het |
Scpep1 |
A |
T |
11: 88,827,871 (GRCm39) |
V209E |
probably damaging |
Het |
Slc35g1 |
A |
G |
19: 38,391,080 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
A |
G |
19: 40,329,151 (GRCm39) |
I554T |
probably damaging |
Het |
Spats1 |
A |
G |
17: 45,777,059 (GRCm39) |
|
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,859,919 (GRCm39) |
Q202R |
probably damaging |
Het |
Trav6-5 |
T |
G |
14: 53,729,045 (GRCm39) |
S102A |
probably damaging |
Het |
Tspan2 |
T |
C |
3: 102,676,215 (GRCm39) |
M208T |
probably damaging |
Het |
Ube4b |
A |
G |
4: 149,471,635 (GRCm39) |
S84P |
probably damaging |
Het |
Vmn1r237 |
C |
A |
17: 21,534,633 (GRCm39) |
Q119K |
probably benign |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Zfp65 |
A |
T |
13: 67,856,929 (GRCm39) |
S117T |
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 |
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'- TCTTCCCAGAGAATTTATTTGGGG -3'
(R):5'- ACAGTGTGTTACAGAAGCCTG -3'
Sequencing Primer
(F):5'- AGGCAGAGTTTCTCACTGTAACC -3'
(R):5'- GTGGCCATCACGTACCTCATAG -3'
|
Posted On |
2016-07-22 |