Incidental Mutation 'RF058:Alg9'
| ID |
605332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg9
|
| Ensembl Gene |
ENSMUSG00000032059 |
| Gene Name |
asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase) |
| Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF058 (G1)
|
| Quality Score |
179.472 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50775019-50843542 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GGC to GGCTGC
at 50775427 bp (GRCm38)
|
| 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: 98.7%
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110021N24Rik |
GAGCGCGGCC |
G |
4: 108,780,629 |
|
probably benign |
Het |
| 5430401F13Rik |
AAGGAAAAGGTGGCCAG |
AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG |
6: 131,552,887 |
|
probably benign |
Het |
| 5430401F13Rik |
CAG |
CAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,552,901 |
|
probably benign |
Het |
| Arid1b |
CGGGGG |
CGGGGGGGG |
17: 4,995,583 |
|
probably benign |
Het |
| Chd4 |
GC |
GCTCCCTC |
6: 125,122,131 |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,561,416 |
|
probably benign |
Het |
| Cort |
GCCCACTCGT |
G |
4: 149,125,412 |
|
probably benign |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT |
17: 23,762,177 |
|
probably null |
Het |
| Gab3 |
TCT |
TCTACT |
X: 75,000,002 |
|
probably benign |
Het |
| Gabre |
C |
CCGGCTG |
X: 72,270,063 |
|
probably benign |
Het |
| Haus4 |
CACTTAAAAAAAAAA |
CA |
14: 54,550,035 |
|
probably benign |
Het |
| Il2 |
AG |
AGGGCTTGAAGTGG |
3: 37,125,817 |
|
probably benign |
Het |
| Il2 |
CTTGAAGTGG |
CTTGAAGTGGGGATTGAAGTGG |
3: 37,125,821 |
|
probably benign |
Het |
| Kri1 |
TCCTCCTCC |
TC |
9: 21,281,066 |
|
probably null |
Het |
| Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,042,262 |
|
probably benign |
Het |
| Mbd1 |
CGTCTTCGTCTGCATCTGCATCTGCA |
C |
18: 74,273,609 |
|
probably null |
Het |
| Nefh |
CCTC |
CCTCGCCTGGGGACTTGGACTC |
11: 4,941,021 |
|
probably benign |
Het |
| Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 84,956,172 |
|
probably benign |
Het |
| Setd1a |
GTGGTGGT |
GTGGTGGTATTGGTGGT |
7: 127,785,318 |
|
probably benign |
Het |
| Treml1 |
ACCT |
A |
17: 48,359,947 |
|
probably null |
Het |
| Triobp |
CTCCCTGTGCCCAAC |
CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC |
15: 78,967,044 |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,680,761 |
|
probably benign |
Het |
|
| Other mutations in Alg9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Alg9
|
APN |
9 |
50775377 |
splice site |
probably null |
|
|
IGL02792:Alg9
|
APN |
9 |
50842748 |
missense |
possibly damaging |
0.90 |
|
gum_drop
|
UTSW |
9 |
50805354 |
missense |
possibly damaging |
0.90 |
|
FR4976:Alg9
|
UTSW |
9 |
50775431 |
unclassified |
probably benign |
|
|
R1183:Alg9
|
UTSW |
9 |
50789533 |
missense |
possibly damaging |
0.82 |
|
R1270:Alg9
|
UTSW |
9 |
50787572 |
intron |
probably benign |
|
|
R1575:Alg9
|
UTSW |
9 |
50775502 |
missense |
possibly damaging |
0.65 |
|
R1773:Alg9
|
UTSW |
9 |
50779096 |
missense |
probably benign |
0.30 |
|
R1837:Alg9
|
UTSW |
9 |
50806315 |
missense |
probably damaging |
1.00 |
|
R2011:Alg9
|
UTSW |
9 |
50788200 |
missense |
probably damaging |
1.00 |
|
R4324:Alg9
|
UTSW |
9 |
50805343 |
missense |
probably damaging |
1.00 |
|
R4514:Alg9
|
UTSW |
9 |
50805354 |
missense |
possibly damaging |
0.90 |
|
R4544:Alg9
|
UTSW |
9 |
50805354 |
missense |
possibly damaging |
0.90 |
|
R4546:Alg9
|
UTSW |
9 |
50805354 |
missense |
possibly damaging |
0.90 |
|
R4996:Alg9
|
UTSW |
9 |
50808705 |
missense |
probably damaging |
1.00 |
|
R5007:Alg9
|
UTSW |
9 |
50788224 |
missense |
probably damaging |
1.00 |
|
R5053:Alg9
|
UTSW |
9 |
50788172 |
missense |
probably damaging |
1.00 |
|
R5308:Alg9
|
UTSW |
9 |
50822711 |
missense |
possibly damaging |
0.95 |
|
R6803:Alg9
|
UTSW |
9 |
50789560 |
missense |
probably benign |
0.37 |
|
R6994:Alg9
|
UTSW |
9 |
50792122 |
nonsense |
probably null |
|
|
R6998:Alg9
|
UTSW |
9 |
50789621 |
missense |
possibly damaging |
0.95 |
|
R7298:Alg9
|
UTSW |
9 |
50779061 |
missense |
probably damaging |
0.97 |
|
R7480:Alg9
|
UTSW |
9 |
50822628 |
missense |
probably benign |
0.06 |
|
R7561:Alg9
|
UTSW |
9 |
50842774 |
missense |
possibly damaging |
0.95 |
|
R7578:Alg9
|
UTSW |
9 |
50789535 |
missense |
probably benign |
|
|
R7721:Alg9
|
UTSW |
9 |
50776642 |
missense |
probably damaging |
0.99 |
|
R7829:Alg9
|
UTSW |
9 |
50788171 |
missense |
probably damaging |
1.00 |
|
R7847:Alg9
|
UTSW |
9 |
50789605 |
missense |
possibly damaging |
0.62 |
|
R7878:Alg9
|
UTSW |
9 |
50842783 |
missense |
probably benign |
0.00 |
|
R8113:Alg9
|
UTSW |
9 |
50808780 |
nonsense |
probably null |
|
|
R8257:Alg9
|
UTSW |
9 |
50779087 |
missense |
possibly damaging |
0.62 |
|
R9214:Alg9
|
UTSW |
9 |
50806245 |
missense |
probably damaging |
1.00 |
|
R9497:Alg9
|
UTSW |
9 |
50800136 |
missense |
probably damaging |
0.97 |
|
R9511:Alg9
|
UTSW |
9 |
50806225 |
missense |
probably damaging |
1.00 |
|
RF003:Alg9
|
UTSW |
9 |
50775427 |
unclassified |
probably benign |
|
|
RF006:Alg9
|
UTSW |
9 |
50775417 |
unclassified |
probably benign |
|
|
Z1177:Alg9
|
UTSW |
9 |
50788173 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCATTGGCACAGTATTTCAG -3'
(R):5'- AGACCCTGGCTGCAAAGATG -3'
Sequencing Primer
(F):5'- GCACAGTATTTCAGTTTTTATTGCGC -3'
(R):5'- CGATGATCGACGCCAAGTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation