Incidental Mutation 'R4447:Alg11'
| ID |
328800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg11
|
| Ensembl Gene |
ENSMUSG00000063362 |
| Gene Name |
ALG11 alpha-1,2-mannosyltransferase |
| Synonyms |
|
| MMRRC Submission |
041708-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4447 (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: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf2 |
G |
T |
11: 94,460,185 (GRCm39) |
P389Q |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,486,483 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ankar |
A |
G |
1: 72,726,948 (GRCm39) |
S415P |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,591,923 (GRCm39) |
|
probably null |
Het |
| Asic4 |
A |
T |
1: 75,447,014 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,061,998 (GRCm39) |
I709S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,412 (GRCm39) |
I90V |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,941 (GRCm39) |
D318E |
probably damaging |
Het |
| Map2k3 |
A |
T |
11: 60,837,997 (GRCm39) |
S253C |
probably damaging |
Het |
| Mgst1 |
G |
T |
6: 138,118,662 (GRCm39) |
|
probably benign |
Het |
| Mipol1 |
G |
T |
12: 57,399,534 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,512,153 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
T |
A |
8: 85,957,995 (GRCm39) |
Y290* |
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,120 (GRCm39) |
V161L |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,559,434 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,693 (GRCm39) |
D197G |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,012 (GRCm39) |
T603A |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,324,634 (GRCm39) |
T1479I |
probably damaging |
Het |
| Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,792,021 (GRCm39) |
R23Q |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,369 (GRCm39) |
I50V |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,159,277 (GRCm39) |
S565T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
| Zfp407 |
A |
T |
18: 84,580,819 (GRCm39) |
V98D |
possibly damaging |
Het |
| Zfp598 |
T |
A |
17: 24,895,529 (GRCm39) |
V73E |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 121,000,367 (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 |
|
R4371: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'- ATCCTTGCACACAACTCAGG -3'
(R):5'- GAGAATGTTGCTCAGGCTGC -3'
Sequencing Primer
(F):5'- CAACTCAGGAGGCCCGAAG -3'
(R):5'- CTCAGGCTGCTTTGATTATGATAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation