Incidental Mutation 'R8388:Alg11'
| ID |
647240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg11
|
| Ensembl Gene |
ENSMUSG00000063362 |
| Gene Name |
ALG11 alpha-1,2-mannosyltransferase |
| Synonyms |
|
| MMRRC Submission |
067753-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22550737-22561643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22552050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 65
(V65I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006742]
[ENSMUST00000072572]
[ENSMUST00000110737]
[ENSMUST00000110738]
|
| AlphaFold |
Q3TZM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006742
|
| SMART Domains |
Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMA
|
71 |
132 |
8.8e-14 |
PFAM |
|
Pfam:HMA
|
156 |
217 |
6.6e-13 |
PFAM |
|
Pfam:HMA
|
271 |
329 |
7.4e-13 |
PFAM |
|
Pfam:HMA
|
364 |
425 |
1.1e-10 |
PFAM |
|
Pfam:HMA
|
493 |
554 |
2.3e-14 |
PFAM |
|
Pfam:HMA
|
569 |
630 |
3.1e-15 |
PFAM |
|
transmembrane domain
|
656 |
675 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
770 |
1018 |
3.3e-60 |
PFAM |
|
Pfam:Hydrolase
|
1023 |
1276 |
1.3e-67 |
PFAM |
|
Pfam:HAD
|
1026 |
1273 |
4.6e-10 |
PFAM |
|
Pfam:Hydrolase_3
|
1243 |
1308 |
5.1e-7 |
PFAM |
|
transmembrane domain
|
1322 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1353 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1418 |
1437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072572
AA Change: V65I
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000072382
Gene: ENSMUSG00000063362
AA Change: V65I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:ALG11_N
|
62 |
269 |
2.6e-94 |
PFAM |
|
Pfam:Glycos_transf_1
|
293 |
470 |
1.4e-30 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
301 |
454 |
8.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110737
AA Change: V65I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106365
Gene: ENSMUSG00000063362
AA Change: V65I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_1
|
248 |
428 |
3.8e-29 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
259 |
412 |
7.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110738
|
| SMART Domains |
Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMA
|
59 |
120 |
1.2e-13 |
PFAM |
|
Pfam:HMA
|
144 |
205 |
9.7e-12 |
PFAM |
|
PDB:2AW0|A
|
259 |
314 |
6e-6 |
PDB |
|
Pfam:HMA
|
378 |
439 |
1.6e-13 |
PFAM |
|
Pfam:HMA
|
454 |
515 |
1.5e-15 |
PFAM |
|
transmembrane domain
|
541 |
560 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
656 |
904 |
4.6e-50 |
PFAM |
|
Pfam:Hydrolase
|
908 |
1161 |
6.6e-76 |
PFAM |
|
Pfam:HAD
|
911 |
1158 |
1.5e-15 |
PFAM |
|
Pfam:Hydrolase_3
|
1128 |
1193 |
8.5e-7 |
PFAM |
|
transmembrane domain
|
1207 |
1229 |
N/A |
INTRINSIC |
|
low complexity region
|
1238 |
1255 |
N/A |
INTRINSIC |
|
low complexity region
|
1303 |
1322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131624
|
| SMART Domains |
Protein: ENSMUSP00000119161
Gene: ENSMUSG00000063362
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALG11_N
|
4 |
160 |
1.4e-60 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,209,888 (GRCm39) |
Y173N |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,548,937 (GRCm39) |
T282A |
probably benign |
Het |
| Adamdec1 |
A |
T |
14: 68,810,684 (GRCm39) |
Y157* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,456,815 (GRCm39) |
Y189H |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,939,026 (GRCm39) |
V278M |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,717,744 (GRCm39) |
P950L |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,180,582 (GRCm39) |
V683D |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,861,571 (GRCm39) |
I493N |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,521,873 (GRCm39) |
Y59C |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,311,813 (GRCm39) |
E685G |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,498,484 (GRCm39) |
S78T |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,614,139 (GRCm39) |
V430A |
probably damaging |
Het |
| Efr3a |
T |
C |
15: 65,738,671 (GRCm39) |
S767P |
probably benign |
Het |
| Enkd1 |
T |
C |
8: 106,431,025 (GRCm39) |
Q234R |
probably damaging |
Het |
| Ercc6 |
ACGGTACCG |
ACGGTACCGGTACCG |
14: 32,292,297 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
T |
A |
6: 38,722,630 (GRCm39) |
Y468F |
probably damaging |
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
A |
G |
6: 126,511,588 (GRCm39) |
V180A |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 166,947,217 (GRCm39) |
I544V |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,843,327 (GRCm39) |
S1119P |
possibly damaging |
Het |
| Klk13 |
T |
C |
7: 43,373,235 (GRCm39) |
C190R |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,562 (GRCm39) |
S2749P |
probably benign |
Het |
| Mpeg1 |
T |
C |
19: 12,440,278 (GRCm39) |
S579P |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,359,784 (GRCm39) |
I903K |
probably damaging |
Het |
| Or4s2 |
T |
A |
2: 88,473,305 (GRCm39) |
S65T |
probably damaging |
Het |
| Ptx4 |
T |
C |
17: 25,339,897 (GRCm39) |
S25P |
probably damaging |
Het |
| Sipa1l1 |
G |
T |
12: 82,216,259 (GRCm39) |
|
probably benign |
Het |
| Slfn9 |
G |
C |
11: 82,878,112 (GRCm39) |
T339R |
probably benign |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,065,237 (GRCm39) |
I1556V |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,854,735 (GRCm39) |
N21D |
probably benign |
Het |
|
| Other mutations in Alg11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02612:Alg11
|
APN |
8 |
22,551,999 (GRCm39) |
missense |
probably benign |
0.22 |
|
1mM(1):Alg11
|
UTSW |
8 |
22,564,073 (GRCm39) |
missense |
probably benign |
|
|
R0240:Alg11
|
UTSW |
8 |
22,555,468 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1908:Alg11
|
UTSW |
8 |
22,555,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Alg11
|
UTSW |
8 |
22,551,903 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2090:Alg11
|
UTSW |
8 |
22,555,646 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2147:Alg11
|
UTSW |
8 |
22,555,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Alg11
|
UTSW |
8 |
22,555,861 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2265:Alg11
|
UTSW |
8 |
22,555,630 (GRCm39) |
missense |
probably benign |
|
|
R2760:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2761:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2762:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2763:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2764:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2877:Alg11
|
UTSW |
8 |
22,555,374 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4165:Alg11
|
UTSW |
8 |
22,555,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Alg11
|
UTSW |
8 |
22,555,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4370:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4371:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4447:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4448:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4450:Alg11
|
UTSW |
8 |
22,558,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4840:Alg11
|
UTSW |
8 |
22,558,026 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5859:Alg11
|
UTSW |
8 |
22,555,857 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5988:Alg11
|
UTSW |
8 |
22,552,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7293:Alg11
|
UTSW |
8 |
22,555,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Alg11
|
UTSW |
8 |
22,552,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7610:Alg11
|
UTSW |
8 |
22,555,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Alg11
|
UTSW |
8 |
22,555,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Alg11
|
UTSW |
8 |
22,555,440 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAACAGGTTGATTTTCACC -3'
(R):5'- CACTAAAGGGACATTGTGAGTTC -3'
Sequencing Primer
(F):5'- GACTGATGATATGCGGAG -3'
(R):5'- CCACTTTAGACTCCAGGTAAGTTGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation