Incidental Mutation 'RF006:Alg9'
| ID |
602829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg9
|
| Ensembl Gene |
ENSMUSG00000032059 |
| Gene Name |
ALG9 alpha-1,2-mannosyltransferase |
| Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF006 (G1)
|
| Quality Score |
208.49 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50686570-50754939 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GGGTGG to GGGTGGTGG
at 50686717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000042391]
[ENSMUST00000159576]
[ENSMUST00000162073]
[ENSMUST00000176145]
[ENSMUST00000176335]
[ENSMUST00000177384]
|
| AlphaFold |
Q8VDI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034561
|
| SMART Domains |
Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
| 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: ENSMUST00000042391
|
| SMART Domains |
Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2431
|
7 |
176 |
1.4e-44 |
PFAM |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
SCOP:d1jjca_
|
487 |
516 |
6e-4 |
SMART |
|
FDX-ACB
|
528 |
622 |
5.88e-17 |
SMART |
|
| 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 |
probably benign
Transcript: ENSMUST00000162073
|
| SMART Domains |
Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
60 |
167 |
7.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176145
|
| SMART Domains |
Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2431
|
7 |
115 |
4.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176335
|
| SMART Domains |
Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
SCOP:d1jjca_
|
285 |
314 |
3e-4 |
SMART |
|
FDX-ACB
|
326 |
420 |
5.88e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177384
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
97% (36/37) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd7 |
GTT |
GT |
2: 3,341,736 (GRCm39) |
|
probably null |
Het |
| Acp7 |
A |
T |
7: 28,314,204 (GRCm39) |
N330K |
possibly damaging |
Het |
| Adam25 |
A |
T |
8: 41,208,834 (GRCm39) |
H700L |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,362,070 (GRCm39) |
V689E |
probably benign |
Het |
| Atxn2l |
A |
G |
7: 126,095,063 (GRCm39) |
V533A |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,542,238 (GRCm39) |
|
probably null |
Het |
| Ccdc121 |
C |
T |
5: 31,644,894 (GRCm39) |
Q216* |
probably null |
Het |
| Ccdc13 |
T |
C |
9: 121,643,273 (GRCm39) |
K376R |
probably damaging |
Het |
| Ccdc170 |
C |
CCAA |
10: 4,511,030 (GRCm39) |
|
probably benign |
Het |
| Cdh9 |
G |
C |
15: 16,855,916 (GRCm39) |
R652P |
probably damaging |
Het |
| Cenpf |
A |
C |
1: 189,389,583 (GRCm39) |
C1416W |
probably damaging |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,671 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
TGTGACAGACACACTGCCCAGGGAAG |
TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG |
9: 86,922,478 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGA |
CCCAGGGATGTGAGAGACACGCTGGCCAGGGA |
9: 86,922,494 (GRCm39) |
|
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,419,441 (GRCm39) |
I744T |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,029,832 (GRCm39) |
R491Q |
probably benign |
Het |
| Eif4a2 |
A |
T |
16: 22,929,028 (GRCm39) |
M188L |
possibly damaging |
Het |
| Esf1 |
CTCCTCTTC |
CTC |
2: 140,006,294 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,913 (GRCm39) |
I2030V |
probably benign |
Het |
| Gab3 |
CTT |
CTTTTT |
X: 74,043,633 (GRCm39) |
|
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,717,183 (GRCm39) |
V195E |
possibly damaging |
Het |
| Gm17402 |
TCCTCCTCC |
TCCTCCTCCCCCTCCTCC |
3: 67,272,892 (GRCm39) |
|
probably benign |
Het |
| Gm17604 |
CTCTCTTTC |
CTC |
X: 163,786,814 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,128 (GRCm39) |
|
probably benign |
Het |
| Gnpnat1 |
T |
A |
14: 45,620,900 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
A |
C |
1: 37,427,908 (GRCm39) |
N651T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,788,768 (GRCm39) |
F81L |
possibly damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,137,809 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
CTCCTC |
CTCCTCATCCTC |
7: 30,285,802 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGCTGTGG |
5: 25,520,770 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,439,566 (GRCm39) |
S405P |
probably damaging |
Het |
| Net1 |
T |
C |
13: 3,937,406 (GRCm39) |
T245A |
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,580,332 (GRCm39) |
T203A |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,912,165 (GRCm39) |
E75G |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,242,110 (GRCm39) |
D1491E |
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,366,634 (GRCm39) |
T704K |
probably benign |
Het |
| Pkhd1l1 |
TT |
TTTTTTTTTGT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
| Plscr1l1 |
A |
T |
9: 92,234,702 (GRCm39) |
I146F |
possibly damaging |
Het |
| Ppp1r8 |
TCTCTCAC |
TC |
4: 132,557,928 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3c |
T |
A |
12: 55,340,600 (GRCm39) |
I157F |
probably benign |
Het |
| Pramel34 |
A |
T |
5: 93,784,562 (GRCm39) |
C301S |
probably benign |
Het |
| Rspo4 |
C |
T |
2: 151,709,797 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
T |
C |
11: 29,656,919 (GRCm39) |
S358P |
possibly damaging |
Het |
| Siglecg |
T |
A |
7: 43,058,288 (GRCm39) |
Y58* |
probably null |
Het |
| Slc4a1 |
C |
T |
11: 102,247,542 (GRCm39) |
|
probably null |
Het |
| Slc9b1 |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
3: 135,063,303 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,442,276 (GRCm39) |
D64E |
probably benign |
Het |
| Spaca1 |
CTCGC |
CTCGCTATCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
A |
G |
17: 24,031,562 (GRCm39) |
S236G |
unknown |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Strn |
TGCTCCCTTACCCCAGTC |
TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC |
17: 78,984,700 (GRCm39) |
|
probably null |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 48,097,038 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
A |
T |
8: 66,965,504 (GRCm39) |
E354V |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,796,959 (GRCm39) |
T94A |
probably benign |
Het |
| Usp40 |
A |
C |
1: 87,894,917 (GRCm39) |
S868A |
possibly damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,783,378 (GRCm39) |
C526Y |
probably damaging |
Het |
| Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,486,383 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
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'- GGTCCATTGGCACAGTATTTC -3'
(R):5'- AGACCCTGGCTGCAAAGATG -3'
Sequencing Primer
(F):5'- GCACAGTATTTCAGTTTTTATTGCGC -3'
(R):5'- CGATGATCGACGCCAAGTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation