Incidental Mutation 'R4371:Alg11'
| ID |
325999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg11
|
| Ensembl Gene |
ENSMUSG00000063362 |
| Gene Name |
ALG11 alpha-1,2-mannosyltransferase |
| Synonyms |
|
| MMRRC Submission |
041117-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22550737-22561643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 22558095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 469
(A469E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072572]
[ENSMUST00000110737]
|
| AlphaFold |
Q3TZM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072572
AA Change: A469E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000072382
Gene: ENSMUSG00000063362
AA Change: A469E
| 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: A427E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106365
Gene: ENSMUSG00000063362
AA Change: A427E
| 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: ENSMUST00000131624
|
| SMART Domains |
Protein: ENSMUSP00000119161
Gene: ENSMUSG00000063362
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALG11_N
|
4 |
160 |
1.4e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134474
|
| Meta Mutation Damage Score |
0.0769 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
A |
11: 69,060,442 (GRCm39) |
R666H |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,491,535 (GRCm39) |
T677A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,520,965 (GRCm39) |
D470G |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,215,701 (GRCm39) |
F337L |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,454,967 (GRCm39) |
R278W |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,284,034 (GRCm39) |
R36H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
| Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,763,818 (GRCm39) |
|
probably null |
Het |
| Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
| Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Gm6177 |
A |
T |
1: 160,720,741 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
T |
6: 3,486,988 (GRCm39) |
V123E |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,671,588 (GRCm39) |
S194P |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,210,251 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
T |
1: 60,329,105 (GRCm39) |
K2174N |
possibly damaging |
Het |
| Ncapg |
G |
A |
5: 45,835,797 (GRCm39) |
M409I |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,239,233 (GRCm39) |
S318P |
possibly damaging |
Het |
| Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,409 (GRCm39) |
S227P |
probably benign |
Het |
| Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,896,475 (GRCm39) |
C729R |
probably damaging |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tfap4 |
A |
G |
16: 4,369,863 (GRCm39) |
I4T |
probably damaging |
Het |
| Thrb |
C |
A |
14: 18,030,275 (GRCm38) |
Q340K |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,888,588 (GRCm39) |
Y1735C |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,725,547 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8388:Alg11
|
UTSW |
8 |
22,552,050 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- TCCTTGCACACAACTCAGG -3'
(R):5'- TGAGAATGTTGCTCAGGCTGC -3'
Sequencing Primer
(F):5'- CAACTCAGGAGGCCCGAAG -3'
(R):5'- CTCAGGCTGCTTTGATTATGATAAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation