Incidental Mutation 'R4450:Alg11'
| ID |
328926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg11
|
| Ensembl Gene |
ENSMUSG00000063362 |
| Gene Name |
ALG11 alpha-1,2-mannosyltransferase |
| Synonyms |
|
| MMRRC Submission |
041711-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4450 (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: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl6 |
A |
G |
11: 54,219,229 (GRCm39) |
D278G |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,810,568 (GRCm39) |
R196Q |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
| Angel1 |
A |
T |
12: 86,768,698 (GRCm39) |
Y262N |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,487,097 (GRCm39) |
E272G |
probably damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Brca2 |
T |
G |
5: 150,459,518 (GRCm39) |
D264E |
probably damaging |
Het |
| Cdca4 |
T |
C |
12: 112,785,278 (GRCm39) |
N150S |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,107,861 (GRCm39) |
S510G |
probably damaging |
Het |
| Cldn12 |
T |
C |
5: 5,558,398 (GRCm39) |
T10A |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,531,807 (GRCm39) |
G631D |
possibly damaging |
Het |
| Col19a1 |
T |
A |
1: 24,361,116 (GRCm39) |
T625S |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,781,720 (GRCm39) |
G1635D |
unknown |
Het |
| Dcp1b |
A |
G |
6: 119,183,437 (GRCm39) |
T175A |
probably benign |
Het |
| Eln |
C |
T |
5: 134,754,635 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm9894 |
T |
A |
13: 67,913,199 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Klhl42 |
G |
A |
6: 146,993,169 (GRCm39) |
G47D |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lzts2 |
A |
T |
19: 45,012,032 (GRCm39) |
K154* |
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,911,411 (GRCm39) |
|
probably null |
Het |
| Mlc1 |
A |
G |
15: 88,847,693 (GRCm39) |
F285S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,074,458 (GRCm39) |
M789K |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,306,933 (GRCm39) |
S319T |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,908,453 (GRCm39) |
Y702* |
probably null |
Het |
| Or8b52 |
A |
T |
9: 38,577,050 (GRCm39) |
V30E |
probably benign |
Het |
| Or8g34 |
G |
A |
9: 39,373,328 (GRCm39) |
M200I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,248,643 (GRCm39) |
T640S |
probably benign |
Het |
| Plaat1 |
C |
T |
16: 29,046,976 (GRCm39) |
T165M |
possibly damaging |
Het |
| Rangrf |
A |
T |
11: 68,866,010 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,954,038 (GRCm39) |
G1867D |
probably damaging |
Het |
| Slc11a1 |
C |
A |
1: 74,424,694 (GRCm39) |
|
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Syt6 |
A |
G |
3: 103,492,961 (GRCm39) |
H156R |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,251,347 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
C |
11: 58,542,191 (GRCm39) |
W384R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
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 |
|
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'- TATCCTTGCACACAACTCAGG -3'
(R):5'- TGAGAATGTTGCTCAGGCTG -3'
Sequencing Primer
(F):5'- CAACTCAGGAGGCCCGAAG -3'
(R):5'- CTCAGGCTGCTTTGATTATGATAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation