Incidental Mutation 'R7847:Alg9'
ID |
606690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alg9
|
Ensembl Gene |
ENSMUSG00000032059 |
Gene Name |
ALG9 alpha-1,2-mannosyltransferase |
Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
MMRRC Submission |
045901-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7847 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
50686570-50754939 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50700905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 225
(L225S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000159576]
[ENSMUST00000162073]
|
AlphaFold |
Q8VDI9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034561
AA Change: L225S
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000034561 Gene: ENSMUSG00000032059 AA Change: L225S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (45/45) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
A |
17: 35,879,549 (GRCm39) |
Y296N |
probably benign |
Het |
Abcc4 |
T |
C |
14: 118,864,892 (GRCm39) |
E378G |
probably damaging |
Het |
Acp2 |
C |
T |
2: 91,041,077 (GRCm39) |
H422Y |
possibly damaging |
Het |
Aldoart1 |
C |
T |
4: 72,770,193 (GRCm39) |
C205Y |
probably damaging |
Het |
Anapc1 |
A |
C |
2: 128,511,828 (GRCm39) |
V455G |
possibly damaging |
Het |
Arhgef5 |
C |
A |
6: 43,252,069 (GRCm39) |
S940* |
probably null |
Het |
Asb15 |
C |
A |
6: 24,564,266 (GRCm39) |
A240E |
probably damaging |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Ccdc17 |
A |
G |
4: 116,457,103 (GRCm39) |
E529G |
probably benign |
Het |
Cyp2b10 |
T |
C |
7: 25,597,185 (GRCm39) |
S26P |
possibly damaging |
Het |
Dcp1b |
T |
C |
6: 119,192,256 (GRCm39) |
S391P |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,712,503 (GRCm39) |
L2086Q |
unknown |
Het |
Ephx1 |
A |
G |
1: 180,829,426 (GRCm39) |
S41P |
probably benign |
Het |
Erbb3 |
G |
A |
10: 128,407,058 (GRCm39) |
T1034M |
probably damaging |
Het |
Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,752,282 (GRCm39) |
H3227R |
probably damaging |
Het |
Grin2c |
G |
A |
11: 115,151,804 (GRCm39) |
P52L |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,807,308 (GRCm39) |
|
probably null |
Het |
Il17rb |
A |
G |
14: 29,718,763 (GRCm39) |
Y440H |
probably damaging |
Het |
Kcng4 |
A |
G |
8: 120,352,881 (GRCm39) |
L343P |
probably damaging |
Het |
Knl1 |
G |
A |
2: 118,901,457 (GRCm39) |
E1053K |
probably benign |
Het |
Lipo4 |
A |
T |
19: 33,491,599 (GRCm39) |
V128E |
possibly damaging |
Het |
Lmntd2 |
T |
C |
7: 140,790,063 (GRCm39) |
N650D |
probably benign |
Het |
Lrrfip2 |
T |
C |
9: 111,042,948 (GRCm39) |
L460P |
probably damaging |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,651,328 (GRCm39) |
Q1379R |
probably damaging |
Het |
Mtfr2 |
G |
A |
10: 20,233,198 (GRCm39) |
A256T |
probably benign |
Het |
Mup17 |
T |
A |
4: 61,511,456 (GRCm39) |
H159L |
probably benign |
Het |
Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,058,430 (GRCm39) |
M610V |
probably benign |
Het |
Or10ak14 |
G |
T |
4: 118,611,565 (GRCm39) |
H59N |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,730 (GRCm39) |
S19T |
probably benign |
Het |
Or8g35 |
A |
G |
9: 39,381,801 (GRCm39) |
S74P |
probably benign |
Het |
Pard3b |
A |
G |
1: 62,383,093 (GRCm39) |
D729G |
probably benign |
Het |
Phactr1 |
T |
C |
13: 43,210,664 (GRCm39) |
L169P |
possibly damaging |
Het |
Rad54b |
T |
A |
4: 11,612,655 (GRCm39) |
S762R |
probably damaging |
Het |
Senp5 |
C |
T |
16: 31,808,991 (GRCm39) |
V88I |
probably benign |
Het |
Specc1l |
T |
C |
10: 75,145,670 (GRCm39) |
V1105A |
probably damaging |
Het |
Trak2 |
A |
C |
1: 58,974,977 (GRCm39) |
S72A |
possibly damaging |
Het |
Ttyh2 |
T |
C |
11: 114,566,500 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,163,005 (GRCm39) |
C1029Y |
probably damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,568,063 (GRCm39) |
Y62C |
probably damaging |
Het |
Vmn2r41 |
A |
G |
7: 8,164,547 (GRCm39) |
F2L |
probably benign |
Het |
Xirp1 |
G |
T |
9: 119,848,819 (GRCm39) |
D21E |
possibly damaging |
Het |
Zfp114 |
C |
A |
7: 23,880,460 (GRCm39) |
Q270K |
possibly damaging |
Het |
Zfp341 |
T |
C |
2: 154,476,114 (GRCm39) |
S441P |
probably damaging |
Het |
Zfp780b |
A |
C |
7: 27,663,843 (GRCm39) |
H237Q |
probably benign |
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 |
R6803:Alg9
|
UTSW |
9 |
50,700,860 (GRCm39) |
missense |
probably benign |
0.37 |
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 |
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'- ACATGTTTACAGTGATTGGCG -3'
(R):5'- CAGGAAGTAGGTAGTCGCTG -3'
Sequencing Primer
(F):5'- TGCAGGTGAAGCTTTAAAAATCAGC -3'
(R):5'- GTCGCTGTTCTCATTAGGATAAATC -3'
|
Posted On |
2019-12-20 |