Incidental Mutation 'R3013:Alg10b'
| ID |
257577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg10b
|
| Ensembl Gene |
ENSMUSG00000075470 |
| Gene Name |
ALG10 alpha-1,2-glucosyltransferase |
| Synonyms |
LOC380959, nse5, Deaf1 |
| MMRRC Submission |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
90108514-90114757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90111759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 201
(I201N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100309]
[ENSMUST00000231200]
|
| AlphaFold |
Q3UGP8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100309
AA Change: I201N
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097882
Gene: ENSMUSG00000075470
AA Change: I201N
| 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 |
unknown
Transcript: ENSMUST00000231200
AA Change: H151Q
|
| Meta Mutation Damage Score |
0.4517 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,752,025 (GRCm39) |
V852A |
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Hspbp1 |
G |
T |
7: 4,666,483 (GRCm39) |
T299K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,025 (GRCm39) |
D114E |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,565,050 (GRCm39) |
F162S |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,285,966 (GRCm39) |
T374A |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,157 (GRCm39) |
D262G |
probably damaging |
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 |
|
|
IGL03402:Alg10b
|
APN |
15 |
90,112,532 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAGTGTTTCCAACCCTC -3'
(R):5'- TGACTACTCCGGTCACCAAC -3'
Sequencing Primer
(F):5'- ATGGCAACCATAGGACCT -3'
(R):5'- CAGAAGCACGTAGGGCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation