Incidental Mutation 'IGL01472:Alg10b'
ID88292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg10b
Ensembl Gene ENSMUSG00000075470
Gene Nameasparagine-linked glycosylation 10B (alpha-1,2-glucosyltransferase)
SynonymsDeaf1, LOC380959, nse5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01472
Quality Score
Status
Chromosome15
Chromosomal Location90224311-90233471 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 90227697 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 248 (L248Q)
Ref Sequence ENSEMBL: ENSMUSP00000097882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100309] [ENSMUST00000231200]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100309
AA Change: L248Q

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097882
Gene: ENSMUSG00000075470
AA Change: L248Q

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
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 G A 7: 119,554,536 probably null Het
Adamts4 T C 1: 171,252,850 F324S probably damaging Het
Antxr2 T A 5: 98,027,499 T90S probably benign Het
Arhgap21 C T 2: 20,849,581 E1657K probably damaging Het
Atp13a5 T G 16: 29,275,423 D803A probably damaging Het
Bzw2 T C 12: 36,109,796 D185G probably damaging Het
Camta2 A G 11: 70,684,124 S62P probably damaging Het
Cep85 T C 4: 134,134,166 Q599R possibly damaging Het
Chsy3 G A 18: 59,176,367 V231I probably damaging Het
Cnbd2 C T 2: 156,375,348 R457W probably damaging Het
Col20a1 A G 2: 181,007,832 T1036A probably benign Het
Colgalt2 T C 1: 152,506,878 Y494H probably damaging Het
Cox15 G T 19: 43,743,665 Y237* probably null Het
Cpne9 C A 6: 113,293,022 S281Y possibly damaging Het
D830013O20Rik G A 12: 73,364,316 noncoding transcript Het
Dnah5 C T 15: 28,331,726 R2153C probably damaging Het
Fam228a A G 12: 4,715,610 I267T possibly damaging Het
Fat4 G A 3: 38,888,070 A371T probably damaging Het
Gm1818 T C 12: 48,556,289 noncoding transcript Het
Gm5592 T C 7: 41,286,074 probably benign Het
Golga4 C A 9: 118,532,574 L207I probably damaging Het
Gtf3c1 A G 7: 125,651,054 probably benign Het
Hao1 C T 2: 134,554,230 E35K probably benign Het
Iqch T C 9: 63,547,934 I194V probably benign Het
Ism1 A T 2: 139,757,303 T392S probably damaging Het
Lcmt1 A G 7: 123,428,153 Y313C probably damaging Het
Loxl4 A G 19: 42,597,549 C718R probably damaging Het
Lyar T G 5: 38,224,722 I16R possibly damaging Het
Map3k20 T C 2: 72,355,553 probably benign Het
Mtus1 T C 8: 41,002,412 T941A probably benign Het
Myh8 A G 11: 67,288,379 probably benign Het
Myof T C 19: 37,923,076 D1482G probably benign Het
Nr4a3 C A 4: 48,071,133 A534D probably damaging Het
Oas1c A G 5: 120,802,921 V269A probably damaging Het
Odf2 T A 2: 29,893,059 S5T probably damaging Het
Olfr1163 T A 2: 88,070,978 T135S possibly damaging Het
Olfr1412 T A 1: 92,588,972 M214K possibly damaging Het
Olfr481 T C 7: 108,081,204 S137P probably benign Het
Pbk A G 14: 65,816,710 T235A probably benign Het
Phrf1 T C 7: 141,256,490 probably benign Het
Prkci A G 3: 31,050,192 D568G probably damaging Het
Prom2 T A 2: 127,532,882 Y578F probably benign Het
Prph T C 15: 99,058,593 probably benign Het
Ryr3 A G 2: 112,672,248 V3527A probably benign Het
Scn10a C T 9: 119,617,763 V1400I probably damaging Het
Slc10a2 A G 8: 5,091,652 L244P probably damaging Het
Tardbp A G 4: 148,622,064 V96A probably benign Het
Tbc1d4 C A 14: 101,489,864 E504* probably null Het
Tmed3 T C 9: 89,702,875 E109G probably benign Het
Tnc C T 4: 64,006,419 R1014H probably benign Het
Tpcn2 C T 7: 145,267,378 R313Q probably damaging Het
Trim45 A G 3: 100,928,065 T455A probably benign Het
Txlna A G 4: 129,632,115 I313T probably damaging Het
Vmn1r202 A T 13: 22,501,989 I86K possibly damaging Het
Vmn2r14 C A 5: 109,216,314 E579* probably null Het
Wrn T A 8: 33,329,172 I8F possibly damaging Het
Zc3h18 A G 8: 122,416,657 probably benign Het
Zfyve26 A T 12: 79,276,343 H876Q probably benign Het
Znrf2 C T 6: 54,863,972 T177I probably damaging Het
Other mutations in Alg10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Alg10b APN 15 90228389 utr 3 prime probably benign
IGL02512:Alg10b APN 15 90227549 missense probably benign
IGL03402:Alg10b APN 15 90228329 nonsense probably null
R1148:Alg10b UTSW 15 90227865 missense possibly damaging 0.67
R1148:Alg10b UTSW 15 90227865 missense possibly damaging 0.67
R1384:Alg10b UTSW 15 90227582 missense possibly damaging 0.49
R1611:Alg10b UTSW 15 90225781 missense probably damaging 1.00
R2113:Alg10b UTSW 15 90225657 missense probably damaging 1.00
R3013:Alg10b UTSW 15 90227556 missense possibly damaging 0.81
R3078:Alg10b UTSW 15 90227936 missense probably benign 0.42
R4629:Alg10b UTSW 15 90227745 missense probably benign 0.00
R4633:Alg10b UTSW 15 90228294 missense probably benign
R7096:Alg10b UTSW 15 90227361 missense probably benign 0.11
R7350:Alg10b UTSW 15 90227450 missense probably benign 0.02
Posted On2013-11-18