Incidental Mutation 'R7878:Alg9'
| ID |
608580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg9
|
| Ensembl Gene |
ENSMUSG00000032059 |
| Gene Name |
ALG9 alpha-1,2-mannosyltransferase |
| Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
| MMRRC Submission |
045930-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7878 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50686570-50754939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50754083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 588
(Y588H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000162073]
[ENSMUST00000177320]
|
| AlphaFold |
Q8VDI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034561
AA Change: Y588H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: Y588H
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177320
|
| SMART Domains |
Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
2 |
99 |
4.3e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
A |
10: 20,857,330 (GRCm39) |
|
probably null |
Het |
| Ak7 |
T |
A |
12: 105,733,008 (GRCm39) |
I584N |
probably damaging |
Het |
| Akip1 |
A |
T |
7: 109,306,609 (GRCm39) |
Y102F |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,582 (GRCm39) |
N831K |
unknown |
Het |
| Bcl2l11 |
T |
A |
2: 127,970,608 (GRCm39) |
L19* |
probably null |
Het |
| Btn1a1 |
T |
C |
13: 23,643,214 (GRCm39) |
T412A |
possibly damaging |
Het |
| Ccbe1 |
T |
C |
18: 66,209,462 (GRCm39) |
N193D |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,174 (GRCm39) |
S1975G |
probably benign |
Het |
| Cd96 |
A |
G |
16: 45,938,139 (GRCm39) |
S109P |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,149,979 (GRCm39) |
I2622S |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,226,265 (GRCm39) |
T2941K |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,192,934 (GRCm39) |
Y679H |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,484,700 (GRCm39) |
V619A |
probably damaging |
Het |
| Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,938,917 (GRCm39) |
V55A |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,299,454 (GRCm39) |
Y985N |
probably damaging |
Het |
| Lao1 |
A |
G |
4: 118,824,619 (GRCm39) |
N234D |
probably benign |
Het |
| Lima1 |
C |
T |
15: 99,717,431 (GRCm39) |
V192I |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,338,153 (GRCm39) |
D1209A |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,338,154 (GRCm39) |
D1209Y |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,269,163 (GRCm39) |
H462R |
probably benign |
Het |
| Mab21l1 |
A |
T |
3: 55,691,438 (GRCm39) |
T342S |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,961,812 (GRCm39) |
V657A |
probably benign |
Het |
| Mtmr11 |
A |
G |
3: 96,076,515 (GRCm39) |
K490R |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,978,077 (GRCm39) |
D383G |
probably damaging |
Het |
| Nectin1 |
G |
A |
9: 43,715,198 (GRCm39) |
G478D |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,091,554 (GRCm39) |
M1T |
probably null |
Het |
| Odad1 |
A |
G |
7: 45,573,984 (GRCm39) |
E17G |
possibly damaging |
Het |
| Odad2 |
G |
T |
18: 7,217,801 (GRCm39) |
H638N |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,267,145 (GRCm39) |
D119G |
probably damaging |
Het |
| Or52z15 |
A |
T |
7: 103,332,471 (GRCm39) |
H182L |
probably damaging |
Het |
| Pnisr |
C |
A |
4: 21,874,370 (GRCm39) |
F704L |
unknown |
Het |
| Ptpn21 |
T |
A |
12: 98,681,387 (GRCm39) |
K82N |
probably damaging |
Het |
| Pyroxd2 |
T |
G |
19: 42,731,104 (GRCm39) |
|
probably null |
Het |
| Pzp |
A |
G |
6: 128,489,274 (GRCm39) |
S446P |
possibly damaging |
Het |
| Rbck1 |
T |
A |
2: 152,160,330 (GRCm39) |
I450F |
probably damaging |
Het |
| Rnase4 |
T |
A |
14: 51,342,333 (GRCm39) |
L19Q |
probably damaging |
Het |
| Rrp9 |
A |
G |
9: 106,358,516 (GRCm39) |
E118G |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,168,005 (GRCm39) |
S169P |
probably benign |
Het |
| Sema5b |
G |
A |
16: 35,481,996 (GRCm39) |
S957N |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,204,361 (GRCm39) |
|
probably benign |
Het |
| Skint2 |
A |
T |
4: 112,506,942 (GRCm39) |
I322F |
possibly damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,119,856 (GRCm39) |
R4385W |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,469,460 (GRCm39) |
C4471Y |
probably damaging |
Het |
| Stk16 |
T |
A |
1: 75,189,589 (GRCm39) |
L167* |
probably null |
Het |
| Tanc2 |
G |
A |
11: 105,804,241 (GRCm39) |
R245H |
|
Het |
| Tdpoz1 |
G |
A |
3: 93,578,431 (GRCm39) |
Q118* |
probably null |
Het |
| Tekt3 |
C |
T |
11: 62,961,277 (GRCm39) |
R149* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,501,564 (GRCm39) |
E1256G |
probably damaging |
Het |
| Tie1 |
G |
A |
4: 118,335,621 (GRCm39) |
R791C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,299,411 (GRCm39) |
S1204T |
possibly damaging |
Het |
| Trim28 |
G |
T |
7: 12,758,289 (GRCm39) |
|
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,024,521 (GRCm39) |
N282S |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,640,300 (GRCm39) |
D1402E |
possibly damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
| Zfyve28 |
T |
A |
5: 34,356,999 (GRCm39) |
K733M |
probably damaging |
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 |
|
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'- GCTCTTGCTAGTCTGTTCAGAC -3'
(R):5'- GTGGACGACCTTTATTACAGCTC -3'
Sequencing Primer
(F):5'- GCTAGTCTGTTCAGACTTATTAAGG -3'
(R):5'- AGCTCTAACAGGATGCCTTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation