Incidental Mutation 'R3078:Alg10b'
ID 265307
Institutional Source Beutler Lab
Gene Symbol Alg10b
Ensembl Gene ENSMUSG00000075470
Gene Name ALG10 alpha-1,2-glucosyltransferase
Synonyms LOC380959, nse5, Deaf1
MMRRC Submission 040568-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3078 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 90108514-90114757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90112139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 328 (S328P)
Ref Sequence ENSEMBL: ENSMUSP00000097882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100309] [ENSMUST00000231200]
AlphaFold Q3UGP8
Predicted Effect probably benign
Transcript: ENSMUST00000100309
AA Change: S328P

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097882
Gene: ENSMUSG00000075470
AA Change: S328P

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 93% (42/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,306,764 (GRCm39) I1981V probably benign Het
Actr3b A G 5: 26,027,440 (GRCm39) Y37C probably damaging Het
Adgrd1 A T 5: 129,206,169 (GRCm39) I248F probably benign Het
C5ar2 G A 7: 15,971,349 (GRCm39) R193C probably damaging Het
Cct8 A G 16: 87,285,765 (GRCm39) V231A possibly damaging Het
Clca4a C T 3: 144,674,014 (GRCm39) M240I probably damaging Het
Cmya5 A T 13: 93,185,435 (GRCm39) I3520N probably damaging Het
Dock6 G T 9: 21,757,050 (GRCm39) probably benign Het
Dynlrb1 T A 2: 155,091,865 (GRCm39) I99N probably damaging Het
Ebf4 G A 2: 130,148,419 (GRCm39) D77N probably damaging Het
Fbxw10 C T 11: 62,758,339 (GRCm39) probably benign Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gm5499 T C 17: 87,386,314 (GRCm39) noncoding transcript Het
Gm9913 A G 2: 125,348,459 (GRCm39) probably benign Het
Herc2 A G 7: 55,786,991 (GRCm39) N1612S probably benign Het
Ifnar2 T C 16: 91,182,889 (GRCm39) S53P possibly damaging Het
Inpp5j T A 11: 3,453,124 (GRCm39) probably null Het
Insyn2a A G 7: 134,519,750 (GRCm39) I260T probably benign Het
Iqca1l G C 5: 24,751,664 (GRCm39) T528S probably benign Het
Kif14 T G 1: 136,447,383 (GRCm39) I1396S possibly damaging Het
Med28 A G 5: 45,679,820 (GRCm39) T68A possibly damaging Het
Meis1 A T 11: 18,961,254 (GRCm39) N206K probably benign Het
Mfsd14a T C 3: 116,441,566 (GRCm39) probably benign Het
Mnt G C 11: 74,733,936 (GRCm39) probably benign Het
Mto1 A G 9: 78,365,310 (GRCm39) Y413C probably damaging Het
Myo7b T C 18: 32,100,237 (GRCm39) D1599G probably benign Het
Myoz1 T C 14: 20,703,685 (GRCm39) probably benign Het
Nhsl2 C T X: 101,121,201 (GRCm39) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm39) Y306N probably damaging Het
Nrxn3 T G 12: 89,227,186 (GRCm39) C274G probably damaging Het
Or1e29 G A 11: 73,667,466 (GRCm39) P229L possibly damaging Het
Or5ac22 A T 16: 59,135,089 (GRCm39) M227K probably benign Het
Phldb2 T C 16: 45,645,373 (GRCm39) T403A probably benign Het
Plaa T C 4: 94,458,042 (GRCm39) I643V probably benign Het
Slc28a2b T C 2: 122,344,895 (GRCm39) L167P possibly damaging Het
Stau1 T C 2: 166,796,936 (GRCm39) I154V possibly damaging Het
Ugcg T G 4: 59,213,922 (GRCm39) V168G probably damaging Het
Vmn2r2 T C 3: 64,042,053 (GRCm39) I221V probably benign Het
Wdr93 T C 7: 79,402,241 (GRCm39) I180T possibly damaging Het
Whamm G C 7: 81,221,532 (GRCm39) G155R probably damaging Het
Wnt5a T A 14: 28,235,140 (GRCm39) Y41* probably null Het
Other mutations in Alg10b
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3013:Alg10b UTSW 15 90,111,759 (GRCm39) missense possibly damaging 0.81
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'- GAATGCTCTTCCTGTTGACCTG -3'
(R):5'- GTCAGCTATAGCCCAACCAG -3'

Sequencing Primer
(F):5'- TGTTGACCTGGCCCTACGTG -3'
(R):5'- CAACCAGCAAAAATGTAGGCTG -3'
Posted On 2015-02-05