Incidental Mutation 'IGL03402:Alg10b'
| ID |
421450 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alg10b
|
| Ensembl Gene |
ENSMUSG00000075470 |
| Gene Name |
ALG10 alpha-1,2-glucosyltransferase |
| Synonyms |
LOC380959, nse5, Deaf1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
90108514-90114757 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 90112532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 459
(K459*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100309]
[ENSMUST00000231200]
|
| AlphaFold |
Q3UGP8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100309
AA Change: K459*
|
| SMART Domains |
Protein: ENSMUSP00000097882
Gene: ENSMUSG00000075470
AA Change: K459*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:DIE2_ALG10
|
31 |
428 |
2.4e-133 |
PFAM |
|
transmembrane domain
|
435 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183650
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231200
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for an ENU induced allele exhibit deafness associated with cochlear outer hair cell degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,216,972 (GRCm39) |
H81R |
probably benign |
Het |
| C8g |
A |
T |
2: 25,388,824 (GRCm39) |
*203K |
probably null |
Het |
| Cacna1b |
T |
C |
2: 24,652,821 (GRCm39) |
E80G |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,583,826 (GRCm39) |
N555K |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,387,273 (GRCm39) |
N1669I |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,480,203 (GRCm39) |
|
probably null |
Het |
| Ear1 |
A |
G |
14: 44,056,575 (GRCm39) |
S98P |
probably benign |
Het |
| Elfn2 |
A |
T |
15: 78,557,670 (GRCm39) |
D292E |
possibly damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,430,316 (GRCm39) |
S443G |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,388,583 (GRCm39) |
E716G |
possibly damaging |
Het |
| Gabra1 |
G |
T |
11: 42,024,345 (GRCm39) |
N443K |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,714,894 (GRCm39) |
V700E |
probably damaging |
Het |
| Ifi27l2a |
T |
A |
12: 103,405,772 (GRCm39) |
N162K |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,115,731 (GRCm39) |
T49S |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,463,443 (GRCm39) |
M1750V |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,917,802 (GRCm39) |
W148R |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,667 (GRCm39) |
M1K |
probably null |
Het |
| Or2y1 |
A |
T |
11: 49,385,873 (GRCm39) |
H171L |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,511,667 (GRCm39) |
V352A |
probably damaging |
Het |
| Prkca |
T |
A |
11: 108,231,489 (GRCm39) |
Q63L |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Slfn14 |
T |
C |
11: 83,167,139 (GRCm39) |
K792R |
probably benign |
Het |
| Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
| Snx19 |
A |
T |
9: 30,351,430 (GRCm39) |
I135F |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,805,165 (GRCm39) |
V271E |
probably benign |
Het |
| Trpv1 |
T |
G |
11: 73,130,463 (GRCm39) |
F190V |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,588 (GRCm39) |
V765A |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,679 (GRCm39) |
H68R |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,267,148 (GRCm39) |
I177T |
possibly damaging |
Het |
| Zfp810 |
A |
C |
9: 22,190,441 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Alg10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Alg10b
|
APN |
15 |
90,112,592 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01472:Alg10b
|
APN |
15 |
90,111,900 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02512:Alg10b
|
APN |
15 |
90,111,752 (GRCm39) |
missense |
probably benign |
|
|
R1148:Alg10b
|
UTSW |
15 |
90,112,068 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1148:Alg10b
|
UTSW |
15 |
90,112,068 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1384:Alg10b
|
UTSW |
15 |
90,111,785 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1611:Alg10b
|
UTSW |
15 |
90,109,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Alg10b
|
UTSW |
15 |
90,109,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3013:Alg10b
|
UTSW |
15 |
90,111,759 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3078:Alg10b
|
UTSW |
15 |
90,112,139 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4629:Alg10b
|
UTSW |
15 |
90,111,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4633:Alg10b
|
UTSW |
15 |
90,112,497 (GRCm39) |
missense |
probably benign |
|
|
R7096:Alg10b
|
UTSW |
15 |
90,111,564 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7350:Alg10b
|
UTSW |
15 |
90,111,653 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8862:Alg10b
|
UTSW |
15 |
90,109,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Alg10b
|
UTSW |
15 |
90,109,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9146:Alg10b
|
UTSW |
15 |
90,112,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Alg10b
|
UTSW |
15 |
90,111,656 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9796:Alg10b
|
UTSW |
15 |
90,108,728 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1187:Alg10b
|
UTSW |
15 |
90,112,397 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2016-08-02 |
Incidental Mutation