Incidental Mutation 'R7096:Alg10b'
ID 550513
Institutional Source Beutler Lab
Gene Symbol Alg10b
Ensembl Gene ENSMUSG00000075470
Gene Name ALG10 alpha-1,2-glucosyltransferase
Synonyms LOC380959, nse5, Deaf1
MMRRC Submission 045188-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7096 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 90108514-90114757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90111564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 136 (T136I)
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: T136I

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097882
Gene: ENSMUSG00000075470
AA Change: T136I

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 probably benign
Transcript: ENSMUST00000231200
Meta Mutation Damage Score 0.4441 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T G 3: 40,888,305 (GRCm39) M383R probably damaging Het
Acd T A 8: 106,425,121 (GRCm39) E366V possibly damaging Het
Acvr2b T A 9: 119,257,255 (GRCm39) probably null Het
Ankrd42 T A 7: 92,241,040 (GRCm39) K440* probably null Het
Apc T A 18: 34,449,010 (GRCm39) S1969T probably damaging Het
Arhgef25 T C 10: 127,019,897 (GRCm39) Y447C probably damaging Het
AW146154 G A 7: 41,130,867 (GRCm39) A83V probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Barhl1 T G 2: 28,799,726 (GRCm39) I300L probably benign Het
Brd1 C A 15: 88,598,138 (GRCm39) R536L probably damaging Het
Brms1 T A 19: 5,096,708 (GRCm39) I130N probably damaging Het
Ccdc68 A G 18: 70,073,241 (GRCm39) H63R probably damaging Het
Ccl28 A G 13: 120,112,429 (GRCm39) I74V probably benign Het
Cd300ld T A 11: 114,878,321 (GRCm39) I64F possibly damaging Het
Cdkl2 G A 5: 92,181,043 (GRCm39) Q199* probably null Het
Cdkn2c C T 4: 109,518,555 (GRCm39) R133Q probably benign Het
Coq2 A G 5: 100,811,586 (GRCm39) probably benign Het
Coq6 T C 12: 84,408,595 (GRCm39) probably null Het
Csmd2 C T 4: 128,356,519 (GRCm39) S1608L Het
Cyp11b2 T A 15: 74,727,837 (GRCm39) R82W probably damaging Het
Cyp2d10 T C 15: 82,289,462 (GRCm39) T217A probably benign Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dnah7a T C 1: 53,522,599 (GRCm39) I2880V possibly damaging Het
Dync1h1 C A 12: 110,623,512 (GRCm39) T3595K probably damaging Het
Ecscr T A 18: 35,848,478 (GRCm39) E183V probably damaging Het
Elovl6 A G 3: 129,398,755 (GRCm39) N52S probably benign Het
Eps8l1 G T 7: 4,477,190 (GRCm39) A455S probably benign Het
Gpat2 A G 2: 127,270,209 (GRCm39) N74S probably benign Het
Gstk1 C A 6: 42,226,407 (GRCm39) T172K probably damaging Het
Gtf3c1 T C 7: 125,295,731 (GRCm39) probably null Het
Gucy2c T C 6: 136,705,339 (GRCm39) D532G probably benign Het
Hoxc12 T A 15: 102,845,473 (GRCm39) N62K possibly damaging Het
Hsdl1 C A 8: 120,293,064 (GRCm39) A124S possibly damaging Het
Il11 T C 7: 4,778,995 (GRCm39) Y45C probably damaging Het
Lcat C T 8: 106,666,309 (GRCm39) M404I possibly damaging Het
Ldhb A G 6: 142,447,099 (GRCm39) F72L probably benign Het
Map10 T C 8: 126,398,662 (GRCm39) L685P probably damaging Het
Me2 A G 18: 73,927,961 (GRCm39) V174A probably benign Het
Med13l C A 5: 118,859,991 (GRCm39) Q328K possibly damaging Het
Mta2 A T 19: 8,925,139 (GRCm39) I336F probably damaging Het
Mterf1a A T 5: 3,941,769 (GRCm39) I33N probably damaging Het
Myo15b T A 11: 115,782,324 (GRCm39) probably null Het
Myof C A 19: 37,924,648 (GRCm39) G1215V probably damaging Het
Nlgn2 G A 11: 69,716,516 (GRCm39) T675M probably damaging Het
Or1e26 T A 11: 73,480,463 (GRCm39) M34L probably benign Het
Or5p61 C A 7: 107,758,848 (GRCm39) M77I probably benign Het
Or6c38 T C 10: 128,929,715 (GRCm39) I43V probably damaging Het
Padi3 T C 4: 140,527,435 (GRCm39) D122G probably damaging Het
Pcnx3 G A 19: 5,722,643 (GRCm39) R1350C probably damaging Het
Pdzrn4 C A 15: 92,295,384 (GRCm39) Q197K probably benign Het
Pitpnm2 C T 5: 124,267,324 (GRCm39) G639S possibly damaging Het
Piwil4 T A 9: 14,648,112 (GRCm39) K156* probably null Het
Pkmyt1 T A 17: 23,953,087 (GRCm39) H214Q probably damaging Het
Pnpt1 G A 11: 29,104,867 (GRCm39) R597Q probably benign Het
Poteg C A 8: 27,963,595 (GRCm39) A344E probably benign Het
Rad21l A G 2: 151,509,840 (GRCm39) M87T probably benign Het
Ranbp17 T C 11: 33,424,896 (GRCm39) I487V probably benign Het
Rap1gap2 C A 11: 74,283,057 (GRCm39) R681L probably damaging Het
Rimbp2 C A 5: 128,851,333 (GRCm39) R871L probably damaging Het
Rnf135 T C 11: 80,080,051 (GRCm39) V114A probably benign Het
Skic2 T A 17: 35,060,446 (GRCm39) H849L probably benign Het
Snai2 A G 16: 14,525,028 (GRCm39) H178R possibly damaging Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Taar1 A T 10: 23,796,809 (GRCm39) E169V possibly damaging Het
Tdrd12 G T 7: 35,187,014 (GRCm39) D625E Het
Tlr6 A G 5: 65,111,119 (GRCm39) V596A probably benign Het
Trak2 T G 1: 58,942,749 (GRCm39) N886H probably damaging Het
Tsga10 T A 1: 37,879,695 (GRCm39) D32V probably damaging Het
Vmn1r214 A G 13: 23,219,196 (GRCm39) D230G probably damaging Het
Vmn2r108 A G 17: 20,682,762 (GRCm39) L814S probably damaging Het
Zbbx T C 3: 74,989,044 (GRCm39) D353G probably benign 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
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
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'- CTTAAACATGGTGTTGCAAAGCC -3'
(R):5'- GGCTTCACTGCACTTCTGTG -3'

Sequencing Primer
(F):5'- CATGGTGTTGCAAAGCCAGAAATAC -3'
(R):5'- TGCAATGAGGTGTCCTGCAC -3'
Posted On 2019-05-15