Incidental Mutation 'R6803:Alg9'
ID |
533444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alg9
|
Ensembl Gene |
ENSMUSG00000032059 |
Gene Name |
ALG9 alpha-1,2-mannosyltransferase |
Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
MMRRC Submission |
044916-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6803 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
50686570-50754939 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 50700860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 210
(D210A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000159576]
[ENSMUST00000162073]
|
AlphaFold |
Q8VDI9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034561
AA Change: D210A
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000034561 Gene: ENSMUSG00000032059 AA Change: D210A
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
60 |
482 |
3.5e-127 |
PFAM |
low complexity region
|
598 |
611 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159576
|
SMART Domains |
Protein: ENSMUSP00000123711 Gene: ENSMUSG00000032059
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
60 |
228 |
1e-43 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000162073
|
SMART Domains |
Protein: ENSMUSP00000125425 Gene: ENSMUSG00000032059
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
60 |
167 |
7.5e-31 |
PFAM |
|
Meta Mutation Damage Score |
0.0929 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
As3mt |
T |
G |
19: 46,698,020 (GRCm39) |
M120R |
probably benign |
Het |
Baz1a |
T |
A |
12: 54,988,340 (GRCm39) |
S270C |
probably null |
Het |
Car5a |
A |
C |
8: 122,650,504 (GRCm39) |
|
probably null |
Het |
Ccdc187 |
T |
A |
2: 26,179,791 (GRCm39) |
T223S |
probably benign |
Het |
Cel |
T |
C |
2: 28,448,060 (GRCm39) |
N322S |
probably benign |
Het |
Chd6 |
T |
C |
2: 160,802,279 (GRCm39) |
E2185G |
possibly damaging |
Het |
Clcnkb |
T |
C |
4: 141,132,639 (GRCm39) |
T597A |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,068,060 (GRCm39) |
Y24C |
possibly damaging |
Het |
Cog3 |
A |
G |
14: 75,941,479 (GRCm39) |
S817P |
probably benign |
Het |
Col8a2 |
A |
G |
4: 126,205,793 (GRCm39) |
Y601C |
probably damaging |
Het |
Cpm |
G |
T |
10: 117,512,002 (GRCm39) |
|
probably null |
Het |
Cpt2 |
T |
C |
4: 107,769,861 (GRCm39) |
N79S |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,016,198 (GRCm39) |
T314A |
probably benign |
Het |
Dnm1 |
C |
A |
2: 32,202,766 (GRCm39) |
V46F |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,908,083 (GRCm39) |
V2640M |
probably damaging |
Het |
Fbxl2 |
A |
T |
9: 113,813,617 (GRCm39) |
C296S |
probably damaging |
Het |
Fcgbp |
A |
G |
7: 27,802,637 (GRCm39) |
T1522A |
probably benign |
Het |
Foxl2 |
A |
C |
9: 98,837,985 (GRCm39) |
K91T |
probably damaging |
Het |
Hdac11 |
G |
T |
6: 91,143,247 (GRCm39) |
R131L |
probably damaging |
Het |
Ipo11 |
T |
C |
13: 106,993,766 (GRCm39) |
I723V |
probably benign |
Het |
Klhl33 |
A |
G |
14: 51,134,192 (GRCm39) |
L150P |
probably damaging |
Het |
Klk1b11 |
A |
G |
7: 43,647,261 (GRCm39) |
H65R |
probably damaging |
Het |
Larp7 |
T |
C |
3: 127,330,685 (GRCm39) |
|
probably null |
Het |
Ldlrad3 |
T |
C |
2: 101,943,892 (GRCm39) |
D60G |
possibly damaging |
Het |
Mlip |
A |
T |
9: 77,097,663 (GRCm39) |
H177Q |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,090,730 (GRCm39) |
D298G |
probably benign |
Het |
Npas2 |
A |
C |
1: 39,375,130 (GRCm39) |
S483R |
probably benign |
Het |
Nrg3 |
C |
A |
14: 38,733,957 (GRCm39) |
E310* |
probably null |
Het |
Omg |
T |
A |
11: 79,393,094 (GRCm39) |
T255S |
possibly damaging |
Het |
Or2y12 |
T |
A |
11: 49,426,432 (GRCm39) |
L140H |
probably damaging |
Het |
Or56b1b |
G |
T |
7: 108,164,620 (GRCm39) |
D127E |
probably damaging |
Het |
Plekhg6 |
T |
C |
6: 125,340,626 (GRCm39) |
D578G |
probably damaging |
Het |
Pygo1 |
A |
G |
9: 72,850,267 (GRCm39) |
K39E |
probably damaging |
Het |
Rell2 |
A |
G |
18: 38,089,994 (GRCm39) |
D66G |
probably damaging |
Het |
Samd9l |
A |
T |
6: 3,375,446 (GRCm39) |
I605K |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,505,970 (GRCm39) |
S593P |
probably damaging |
Het |
Sf3b3 |
A |
G |
8: 111,552,210 (GRCm39) |
V545A |
probably benign |
Het |
Speer4f1 |
T |
A |
5: 17,684,388 (GRCm39) |
|
probably null |
Het |
Spem1 |
T |
C |
11: 69,711,974 (GRCm39) |
E230G |
possibly damaging |
Het |
Sphkap |
A |
G |
1: 83,258,231 (GRCm39) |
F171L |
probably damaging |
Het |
Tbc1d13 |
T |
C |
2: 30,025,522 (GRCm39) |
|
probably benign |
Het |
Tmem222 |
A |
T |
4: 132,994,154 (GRCm39) |
N206K |
probably benign |
Het |
Trnau1ap |
C |
T |
4: 132,049,081 (GRCm39) |
V41M |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,769,387 (GRCm39) |
|
probably null |
Het |
Ubr3 |
T |
C |
2: 69,766,368 (GRCm39) |
|
probably null |
Het |
Uox |
T |
G |
3: 146,318,264 (GRCm39) |
V55G |
possibly damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,755,960 (GRCm39) |
I11F |
possibly damaging |
Het |
Wasf2 |
T |
C |
4: 132,922,220 (GRCm39) |
|
probably null |
Het |
Wdr97 |
A |
G |
15: 76,240,776 (GRCm39) |
Y488C |
probably damaging |
Het |
Zbtb4 |
T |
C |
11: 69,669,454 (GRCm39) |
S726P |
possibly damaging |
Het |
Zfp534 |
C |
T |
4: 147,758,926 (GRCm39) |
C581Y |
probably damaging |
Het |
Zfp551 |
A |
T |
7: 12,151,108 (GRCm39) |
C100* |
probably null |
Het |
|
Other mutations in Alg9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01634:Alg9
|
APN |
9 |
50,686,677 (GRCm39) |
splice site |
probably null |
|
IGL02792:Alg9
|
APN |
9 |
50,754,048 (GRCm39) |
missense |
possibly damaging |
0.90 |
gum_drop
|
UTSW |
9 |
50,716,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
FR4976:Alg9
|
UTSW |
9 |
50,686,731 (GRCm39) |
unclassified |
probably benign |
|
R1183:Alg9
|
UTSW |
9 |
50,700,833 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1270:Alg9
|
UTSW |
9 |
50,698,872 (GRCm39) |
intron |
probably benign |
|
R1575:Alg9
|
UTSW |
9 |
50,686,802 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1773:Alg9
|
UTSW |
9 |
50,690,396 (GRCm39) |
missense |
probably benign |
0.30 |
R1837:Alg9
|
UTSW |
9 |
50,717,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Alg9
|
UTSW |
9 |
50,699,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Alg9
|
UTSW |
9 |
50,716,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R4514:Alg9
|
UTSW |
9 |
50,716,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4544:Alg9
|
UTSW |
9 |
50,716,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4546:Alg9
|
UTSW |
9 |
50,716,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4996:Alg9
|
UTSW |
9 |
50,720,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R5007:Alg9
|
UTSW |
9 |
50,699,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R5053:Alg9
|
UTSW |
9 |
50,699,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R5308:Alg9
|
UTSW |
9 |
50,734,011 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6994:Alg9
|
UTSW |
9 |
50,703,422 (GRCm39) |
nonsense |
probably null |
|
R6998:Alg9
|
UTSW |
9 |
50,700,921 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7298:Alg9
|
UTSW |
9 |
50,690,361 (GRCm39) |
missense |
probably damaging |
0.97 |
R7480:Alg9
|
UTSW |
9 |
50,733,928 (GRCm39) |
missense |
probably benign |
0.06 |
R7561:Alg9
|
UTSW |
9 |
50,754,074 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7578:Alg9
|
UTSW |
9 |
50,700,835 (GRCm39) |
missense |
probably benign |
|
R7721:Alg9
|
UTSW |
9 |
50,687,942 (GRCm39) |
missense |
probably damaging |
0.99 |
R7829:Alg9
|
UTSW |
9 |
50,699,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R7847:Alg9
|
UTSW |
9 |
50,700,905 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7878:Alg9
|
UTSW |
9 |
50,754,083 (GRCm39) |
missense |
probably benign |
0.00 |
R8113:Alg9
|
UTSW |
9 |
50,720,080 (GRCm39) |
nonsense |
probably null |
|
R8257:Alg9
|
UTSW |
9 |
50,690,387 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9214:Alg9
|
UTSW |
9 |
50,717,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R9497:Alg9
|
UTSW |
9 |
50,711,436 (GRCm39) |
missense |
probably damaging |
0.97 |
R9511:Alg9
|
UTSW |
9 |
50,717,525 (GRCm39) |
missense |
probably damaging |
1.00 |
RF003:Alg9
|
UTSW |
9 |
50,686,727 (GRCm39) |
unclassified |
probably benign |
|
RF006:Alg9
|
UTSW |
9 |
50,686,717 (GRCm39) |
unclassified |
probably benign |
|
RF058:Alg9
|
UTSW |
9 |
50,686,727 (GRCm39) |
unclassified |
probably benign |
|
Z1177:Alg9
|
UTSW |
9 |
50,699,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCAAACATGTTTACAGTGATTG -3'
(R):5'- CGCTGTTCTCATTAGGATAAATCACAC -3'
Sequencing Primer
(F):5'- ACATGTTTACAGTGATTGGCGTTTTG -3'
(R):5'- ACAAGAATACTACGCTTTTGCTCC -3'
|
Posted On |
2018-09-12 |