Incidental Mutation 'R4230:Alg11'
| ID |
320792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg11
|
| Ensembl Gene |
ENSMUSG00000063362 |
| Gene Name |
ALG11 alpha-1,2-mannosyltransferase |
| Synonyms |
|
| MMRRC Submission |
041049-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4230 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22550737-22561643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22555534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 223
(I223N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072572]
[ENSMUST00000110737]
|
| AlphaFold |
Q3TZM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072572
AA Change: I265N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072382
Gene: ENSMUSG00000063362
AA Change: I265N
| 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 damaging
Transcript: ENSMUST00000110737
AA Change: I223N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106365
Gene: ENSMUSG00000063362
AA Change: I223N
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Ankrd26 |
G |
C |
6: 118,536,349 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
T |
C |
7: 105,216,891 (GRCm39) |
D264G |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,168,770 (GRCm39) |
Y918H |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,829,919 (GRCm39) |
T584P |
probably damaging |
Het |
| Atxn7 |
G |
A |
14: 14,100,381 (GRCm38) |
S689N |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,606,837 (GRCm39) |
N873S |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,488,987 (GRCm38) |
I857F |
probably damaging |
Het |
| Cfap119 |
T |
A |
7: 127,186,002 (GRCm39) |
M102L |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,229 (GRCm39) |
T511A |
probably benign |
Het |
| Dppa3 |
A |
T |
6: 122,606,291 (GRCm39) |
N118I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,234,909 (GRCm39) |
N3663D |
probably benign |
Het |
| Eif1ad14 |
A |
T |
12: 87,886,567 (GRCm39) |
S21T |
unknown |
Het |
| Eme1 |
G |
A |
11: 94,538,818 (GRCm39) |
T354M |
possibly damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Itln1 |
G |
A |
1: 171,362,375 (GRCm39) |
T2I |
probably benign |
Het |
| Jam2 |
T |
A |
16: 84,618,180 (GRCm39) |
M309K |
possibly damaging |
Het |
| Kcnk5 |
C |
A |
14: 20,194,852 (GRCm39) |
C162F |
probably damaging |
Het |
| Metrn |
A |
G |
17: 26,015,915 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,259 (GRCm39) |
Y3402N |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,574,253 (GRCm39) |
|
probably null |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Onecut3 |
T |
C |
10: 80,349,793 (GRCm39) |
I429T |
probably damaging |
Het |
| Or2n1 |
A |
C |
17: 38,486,772 (GRCm39) |
I266L |
possibly damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,188 (GRCm39) |
Y195H |
probably damaging |
Het |
| Or4k37 |
T |
G |
2: 111,159,475 (GRCm39) |
L237R |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,787,329 (GRCm39) |
S858P |
possibly damaging |
Het |
| Phf11c |
A |
T |
14: 59,630,516 (GRCm39) |
V63E |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,620,264 (GRCm39) |
F802L |
possibly damaging |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Sec61a1 |
A |
T |
6: 88,492,413 (GRCm39) |
|
probably null |
Het |
| Slc45a3 |
T |
A |
1: 131,909,399 (GRCm39) |
L532Q |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,048 (GRCm39) |
I292V |
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,747,956 (GRCm39) |
|
probably null |
Het |
| Spag6 |
T |
A |
2: 18,720,449 (GRCm39) |
|
probably null |
Het |
| Spi1 |
T |
C |
2: 90,945,680 (GRCm39) |
F254L |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,901,216 (GRCm39) |
T292A |
probably damaging |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,554,464 (GRCm39) |
I30784V |
possibly damaging |
Het |
| Urod |
T |
A |
4: 116,849,880 (GRCm39) |
T173S |
probably benign |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,041,912 (GRCm39) |
I268L |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,320,292 (GRCm39) |
T1101M |
probably benign |
Het |
| Zc3h12c |
T |
A |
9: 52,055,728 (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 |
|
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 |
|
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'- CACGATCAGCACTGACATGC -3'
(R):5'- ATGGCCTAACTCAGCTGCTTTC -3'
Sequencing Primer
(F):5'- CTGTCTGTGGTGAAGAATCAGAATCC -3'
(R):5'- GCTGCTTTCTCATTTAACAATTTAGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation