Incidental Mutation 'R7721:Alg9'
| ID |
595231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg9
|
| Ensembl Gene |
ENSMUSG00000032059 |
| Gene Name |
ALG9 alpha-1,2-mannosyltransferase |
| Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
| MMRRC Submission |
045777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7721 (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 50687942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 78
(I78T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000042391]
[ENSMUST00000159576]
[ENSMUST00000162073]
[ENSMUST00000176335]
|
| AlphaFold |
Q8VDI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034561
AA Change: I78T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: I78T
| 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 damaging
Transcript: ENSMUST00000159576
AA Change: I78T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
AA Change: I78T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
60 |
228 |
1e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162073
AA Change: I78T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: I78T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
60 |
167 |
7.5e-31 |
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 |
|
| Meta Mutation Damage Score |
0.6413 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (51/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,784,929 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
T |
G |
7: 82,255,728 (GRCm39) |
M1580R |
possibly damaging |
Het |
| Ankmy2 |
G |
T |
12: 36,207,143 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
G |
T |
8: 123,621,498 (GRCm39) |
L785M |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,684,763 (GRCm39) |
D796E |
probably benign |
Het |
| C1s2 |
A |
G |
6: 124,607,017 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,383 (GRCm39) |
I107T |
probably benign |
Het |
| Cldn15 |
A |
G |
5: 136,997,015 (GRCm39) |
M19V |
probably benign |
Het |
| Cldn23 |
T |
G |
8: 36,293,417 (GRCm39) |
S24R |
possibly damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,416 (GRCm39) |
I268N |
probably damaging |
Het |
| Csf2ra |
A |
T |
19: 61,215,024 (GRCm39) |
W147R |
probably damaging |
Het |
| Ctsb |
G |
T |
14: 63,370,765 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,088,874 (GRCm39) |
M34T |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,176,564 (GRCm39) |
I463V |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,670,842 (GRCm39) |
D470V |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,459,500 (GRCm39) |
S435P |
probably benign |
Het |
| Ear2 |
T |
A |
14: 44,340,495 (GRCm39) |
M51K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,615,366 (GRCm39) |
L711* |
probably null |
Het |
| Elmo1 |
T |
A |
13: 20,464,973 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
A |
4: 109,593,794 (GRCm39) |
I124N |
probably damaging |
Het |
| Gkap1 |
A |
C |
13: 58,384,799 (GRCm39) |
|
probably null |
Het |
| Glipr2 |
T |
C |
4: 43,957,770 (GRCm39) |
S4P |
probably benign |
Het |
| Gm38119 |
A |
T |
3: 92,645,337 (GRCm39) |
C86S |
unknown |
Het |
| Gpr171 |
T |
G |
3: 59,005,320 (GRCm39) |
I152L |
probably benign |
Het |
| Hes7 |
T |
A |
11: 69,012,352 (GRCm39) |
T9S |
unknown |
Het |
| Homer3 |
T |
C |
8: 70,743,662 (GRCm39) |
V180A |
probably benign |
Het |
| Irx1 |
T |
A |
13: 72,108,176 (GRCm39) |
M169L |
probably benign |
Het |
| Kap |
A |
G |
6: 133,828,690 (GRCm39) |
|
probably null |
Het |
| Mgat5b |
A |
G |
11: 116,857,627 (GRCm39) |
M2V |
|
Het |
| Mob4 |
C |
T |
1: 55,187,479 (GRCm39) |
Q76* |
probably null |
Het |
| Or10w3 |
T |
A |
19: 13,704,207 (GRCm39) |
I194N |
possibly damaging |
Het |
| Or8b47 |
A |
T |
9: 38,435,013 (GRCm39) |
|
probably null |
Het |
| Or8g26 |
A |
G |
9: 39,096,056 (GRCm39) |
D191G |
probably benign |
Het |
| Pate14 |
C |
T |
9: 36,549,159 (GRCm39) |
G34R |
possibly damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,132,689 (GRCm39) |
Q586L |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,518,409 (GRCm39) |
I340F |
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,419,810 (GRCm39) |
Q1289* |
probably null |
Het |
| Prr22 |
A |
G |
17: 57,078,819 (GRCm39) |
D324G |
possibly damaging |
Het |
| Rab2b |
A |
T |
14: 52,501,217 (GRCm39) |
S201T |
probably benign |
Het |
| Rdh1 |
T |
A |
10: 127,596,121 (GRCm39) |
|
probably null |
Het |
| Rhbdl1 |
G |
T |
17: 26,055,123 (GRCm39) |
N82K |
probably benign |
Het |
| Rspo1 |
C |
A |
4: 124,885,210 (GRCm39) |
Q29K |
possibly damaging |
Het |
| Rtp3 |
A |
T |
9: 110,814,948 (GRCm39) |
Y472* |
probably null |
Het |
| Senp5 |
T |
A |
16: 31,809,252 (GRCm39) |
M1L |
unknown |
Het |
| Slfn4 |
A |
T |
11: 83,078,389 (GRCm39) |
|
probably null |
Het |
| Stab1 |
A |
G |
14: 30,863,413 (GRCm39) |
V2091A |
possibly damaging |
Het |
| Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,320,180 (GRCm39) |
T2243A |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 88,985,604 (GRCm39) |
N1544K |
probably damaging |
Het |
| Uqcc1 |
T |
C |
2: 155,700,066 (GRCm39) |
N202S |
probably benign |
Het |
| Vmn2r18 |
C |
T |
5: 151,510,158 (GRCm39) |
E72K |
possibly damaging |
Het |
| Zfp654 |
C |
A |
16: 64,606,570 (GRCm39) |
C3F |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,263 (GRCm39) |
E600G |
possibly 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 |
|
|
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 |
|
|
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'- GTGCGATTGGAAACGCAATTC -3'
(R):5'- TGAGCTGCTGGGATGTGAAC -3'
Sequencing Primer
(F):5'- GGAAACGCAATTCCTTATTCACTC -3'
(R):5'- GCTGGGATGTGAACTATAATCCTCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation