Incidental Mutation 'R4324:Alg9'
| ID |
323967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg9
|
| Ensembl Gene |
ENSMUSG00000032059 |
| Gene Name |
asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase) |
| Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
| MMRRC Submission |
041095-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4324 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50775019-50843542 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 50805343 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 22
(H22Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000162073]
[ENSMUST00000177320]
|
| AlphaFold |
Q8VDI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034561
AA Change: H405Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: H405Q
| 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: 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: ENSMUST00000175728
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177320
AA Change: H22Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059
AA Change: H22Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
2 |
99 |
4.3e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afp |
A |
G |
5: 90,507,905 (GRCm38) |
D583G |
probably benign |
Het |
| Aqp6 |
G |
A |
15: 99,601,410 (GRCm38) |
M1I |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,940,335 (GRCm38) |
I270N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,645,012 (GRCm38) |
R160L |
possibly damaging |
Het |
| Atg10 |
T |
A |
13: 91,040,966 (GRCm38) |
D75V |
probably damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,205,832 (GRCm38) |
D218E |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,947,509 (GRCm38) |
E624G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,724,979 (GRCm38) |
I760M |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,036,532 (GRCm38) |
K263* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,353,614 (GRCm38) |
I287N |
probably damaging |
Het |
| Cdkn2aip |
A |
T |
8: 47,712,173 (GRCm38) |
S168R |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 118,094,213 (GRCm38) |
V1555M |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,861,393 (GRCm38) |
T471A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,488,698 (GRCm38) |
E478G |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,245,897 (GRCm38) |
F305S |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,097,211 (GRCm38) |
M441K |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,604,945 (GRCm38) |
|
probably null |
Het |
| Gad1 |
G |
A |
2: 70,589,830 (GRCm38) |
D353N |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,428,820 (GRCm38) |
S545G |
probably benign |
Het |
| H2-K1 |
C |
T |
17: 34,000,040 (GRCm38) |
V30M |
possibly damaging |
Het |
| Hipk3 |
C |
A |
2: 104,446,571 (GRCm38) |
V388L |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,541,747 (GRCm38) |
M505L |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,666,793 (GRCm38) |
I355V |
probably benign |
Het |
| Olfr473 |
C |
T |
7: 107,933,693 (GRCm38) |
P58S |
probably damaging |
Het |
| Pcbp3 |
G |
A |
10: 76,763,343 (GRCm38) |
R109* |
probably null |
Het |
| Pcgf1 |
T |
C |
6: 83,079,957 (GRCm38) |
|
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,631,857 (GRCm38) |
V533E |
possibly damaging |
Het |
| Prss3 |
T |
G |
6: 41,373,845 (GRCm38) |
D237A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 20,977,760 (GRCm38) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,678,750 (GRCm38) |
M260L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,787,235 (GRCm38) |
Y151C |
probably benign |
Het |
| Stac3 |
C |
T |
10: 127,503,249 (GRCm38) |
P76S |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 56,887,356 (GRCm38) |
I255V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,908,579 (GRCm38) |
E3872G |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,541,158 (GRCm38) |
V133A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 10,171,013 (GRCm38) |
T300S |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,603,836 (GRCm38) |
I57N |
possibly damaging |
Het |
|
| Other mutations in Alg9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Alg9
|
APN |
9 |
50,775,377 (GRCm38) |
splice site |
probably null |
|
|
IGL02792:Alg9
|
APN |
9 |
50,842,748 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
gum_drop
|
UTSW |
9 |
50,805,354 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
FR4976:Alg9
|
UTSW |
9 |
50,775,431 (GRCm38) |
unclassified |
probably benign |
|
|
R1183:Alg9
|
UTSW |
9 |
50,789,533 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1270:Alg9
|
UTSW |
9 |
50,787,572 (GRCm38) |
intron |
probably benign |
|
|
R1575:Alg9
|
UTSW |
9 |
50,775,502 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1773:Alg9
|
UTSW |
9 |
50,779,096 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1837:Alg9
|
UTSW |
9 |
50,806,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2011:Alg9
|
UTSW |
9 |
50,788,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4514:Alg9
|
UTSW |
9 |
50,805,354 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4544:Alg9
|
UTSW |
9 |
50,805,354 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4546:Alg9
|
UTSW |
9 |
50,805,354 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4996:Alg9
|
UTSW |
9 |
50,808,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5007:Alg9
|
UTSW |
9 |
50,788,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5053:Alg9
|
UTSW |
9 |
50,788,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5308:Alg9
|
UTSW |
9 |
50,822,711 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6803:Alg9
|
UTSW |
9 |
50,789,560 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6994:Alg9
|
UTSW |
9 |
50,792,122 (GRCm38) |
nonsense |
probably null |
|
|
R6998:Alg9
|
UTSW |
9 |
50,789,621 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7298:Alg9
|
UTSW |
9 |
50,779,061 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7480:Alg9
|
UTSW |
9 |
50,822,628 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7561:Alg9
|
UTSW |
9 |
50,842,774 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7578:Alg9
|
UTSW |
9 |
50,789,535 (GRCm38) |
missense |
probably benign |
|
|
R7721:Alg9
|
UTSW |
9 |
50,776,642 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7829:Alg9
|
UTSW |
9 |
50,788,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7847:Alg9
|
UTSW |
9 |
50,789,605 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7878:Alg9
|
UTSW |
9 |
50,842,783 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8113:Alg9
|
UTSW |
9 |
50,808,780 (GRCm38) |
nonsense |
probably null |
|
|
R8257:Alg9
|
UTSW |
9 |
50,779,087 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9214:Alg9
|
UTSW |
9 |
50,806,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9497:Alg9
|
UTSW |
9 |
50,800,136 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9511:Alg9
|
UTSW |
9 |
50,806,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF003:Alg9
|
UTSW |
9 |
50,775,427 (GRCm38) |
unclassified |
probably benign |
|
|
RF006:Alg9
|
UTSW |
9 |
50,775,417 (GRCm38) |
unclassified |
probably benign |
|
|
RF058:Alg9
|
UTSW |
9 |
50,775,427 (GRCm38) |
unclassified |
probably benign |
|
|
Z1177:Alg9
|
UTSW |
9 |
50,788,173 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAGACCCTTGTCACAC -3'
(R):5'- GTACAGAGGTCACATCCCACTC -3'
Sequencing Primer
(F):5'- AGACCCTTGTCACACCTGCTG -3'
(R):5'- GAGAGCAGTCTTTTCCCAGCATAAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation