Incidental Mutation 'IGL02116:Mcoln3'
ID280393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcoln3
Ensembl Gene ENSMUSG00000036853
Gene Namemucolipin 3
Synonymsvaritint-waddler, Va, 6720490O21Rik, TRPML3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #IGL02116
Quality Score
Status
Chromosome3
Chromosomal Location146117450-146141806 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146133909 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 339 (N339D)
Ref Sequence ENSEMBL: ENSMUSP00000038801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039450]
Predicted Effect probably benign
Transcript: ENSMUST00000039450
AA Change: N339D

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038801
Gene: ENSMUSG00000036853
AA Change: N339D

DomainStartEndE-ValueType
low complexity region 24 29 N/A INTRINSIC
transmembrane domain 286 308 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Pfam:PKD_channel 360 508 3.5e-15 PFAM
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 one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Heterozygotes show normal/diluted/white hair patches, circling, hyperactivity, deafness, and reduced fertility. Homozygotes are white with small patches of color and show severe behavioral abnormalities, poor postnatal viability and are nearly infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,673,590 N190K possibly damaging Het
Adamts19 T C 18: 58,837,499 S52P probably benign Het
Ahrr G T 13: 74,220,573 H160Q possibly damaging Het
Ap4s1 T C 12: 51,723,050 probably null Het
Atrn T C 2: 130,958,089 V462A probably damaging Het
D630003M21Rik T C 2: 158,203,210 S800G possibly damaging Het
Dach1 T G 14: 97,901,423 N528T probably damaging Het
Foxl2 T C 9: 98,956,058 M133T probably damaging Het
Grsf1 A G 5: 88,670,174 probably null Het
Gtpbp4 A G 13: 8,992,736 I43T probably damaging Het
Helz2 T C 2: 181,232,185 Y2172C probably damaging Het
Hey1 G T 3: 8,666,580 probably null Het
Hnrnph3 A T 10: 63,016,076 probably benign Het
Hps1 A T 19: 42,771,129 Y81* probably null Het
Inhba A G 13: 16,026,972 H373R probably benign Het
Leo1 T A 9: 75,449,415 I359K probably damaging Het
Mrpl19 G A 6: 81,965,777 P51S probably benign Het
Nadk C A 4: 155,579,306 probably benign Het
Olfr1167 T A 2: 88,149,288 T244S probably benign Het
Olfr235 A G 19: 12,269,010 Y260C probably damaging Het
Pappa2 T G 1: 158,845,125 I1083L probably benign Het
R3hdm2 A G 10: 127,498,552 D948G probably damaging Het
Rbm15 A T 3: 107,330,280 L934Q probably damaging Het
Rec8 T A 14: 55,624,879 probably null Het
Riok1 A G 13: 38,059,956 E486G possibly damaging Het
Rptn A C 3: 93,395,097 E40A possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 T C 1: 45,911,528 T255A probably benign Het
Slc5a8 A T 10: 88,919,500 M490L probably benign Het
Sned1 C A 1: 93,281,725 C62* probably null Het
Sptbn4 T C 7: 27,364,357 T2215A probably benign Het
Synpo T A 18: 60,603,456 R234W probably damaging Het
Tmco3 A T 8: 13,292,706 probably benign Het
Tmprss13 A G 9: 45,333,674 D250G probably benign Het
Vmn2r31 T A 7: 7,394,549 I237F probably damaging Het
Wdr90 A G 17: 25,859,492 V306A probably benign Het
Zfp629 A G 7: 127,612,718 W8R probably damaging Het
Zim1 T C 7: 6,678,254 T137A probably benign Het
Other mutations in Mcoln3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Mcoln3 APN 3 146133928 missense probably damaging 1.00
IGL01106:Mcoln3 APN 3 146137264 missense probably benign 0.01
IGL01712:Mcoln3 APN 3 146128264 unclassified probably benign
IGL02115:Mcoln3 APN 3 146137301 missense probably damaging 0.99
P4717OSA:Mcoln3 UTSW 3 146124749 missense probably damaging 0.99
R0463:Mcoln3 UTSW 3 146140576 nonsense probably null
R1981:Mcoln3 UTSW 3 146140590 nonsense probably null
R2056:Mcoln3 UTSW 3 146128224 missense probably benign 0.01
R3000:Mcoln3 UTSW 3 146133907 missense possibly damaging 0.62
R4366:Mcoln3 UTSW 3 146140492 missense possibly damaging 0.76
R4667:Mcoln3 UTSW 3 146131204 missense probably benign 0.01
R4950:Mcoln3 UTSW 3 146139519 missense probably damaging 0.96
R5457:Mcoln3 UTSW 3 146128122 missense probably benign 0.00
R6302:Mcoln3 UTSW 3 146124772 missense probably benign 0.00
R6353:Mcoln3 UTSW 3 146131154 missense probably damaging 0.99
R6632:Mcoln3 UTSW 3 146128187 missense probably benign
R6915:Mcoln3 UTSW 3 146137256 critical splice acceptor site probably null
R7790:Mcoln3 UTSW 3 146139492 missense probably damaging 1.00
R7838:Mcoln3 UTSW 3 146139475 missense probably damaging 1.00
R7861:Mcoln3 UTSW 3 146124791 missense possibly damaging 0.95
R7921:Mcoln3 UTSW 3 146139475 missense probably damaging 1.00
R7944:Mcoln3 UTSW 3 146124791 missense possibly damaging 0.95
Z1176:Mcoln3 UTSW 3 146140466 missense probably benign 0.00
Posted On2015-04-16