Incidental Mutation 'R5876:Mcoln1'
ID 455532
Institutional Source Beutler Lab
Gene Symbol Mcoln1
Ensembl Gene ENSMUSG00000004567
Gene Name mucolipin 1
Synonyms TRPML1, mucolipidin, 2210015I05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R5876 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 3500457-3515232 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3510910 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 411 (Y411N)
Ref Sequence ENSEMBL: ENSMUSP00000004683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000004683] [ENSMUST00000111070] [ENSMUST00000160338] [ENSMUST00000207146] [ENSMUST00000208002] [ENSMUST00000208310] [ENSMUST00000208306] [ENSMUST00000208359] [ENSMUST00000208762]
AlphaFold Q99J21
Predicted Effect probably benign
Transcript: ENSMUST00000004681
SMART Domains Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
low complexity region 87 101 N/A INTRINSIC
cNMP 147 272 3.17e-13 SMART
cNMP 465 584 3.17e-4 SMART
cNMP 587 703 3.45e-5 SMART
Blast:cNMP 742 777 7e-11 BLAST
Pfam:Patatin 933 1099 5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000004683
AA Change: Y411N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: Y411N

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 299 321 N/A INTRINSIC
transmembrane domain 348 370 N/A INTRINSIC
Pfam:PKD_channel 378 524 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111070
SMART Domains Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
low complexity region 87 101 N/A INTRINSIC
cNMP 147 272 3.17e-13 SMART
cNMP 465 584 3.17e-4 SMART
cNMP 587 703 3.45e-5 SMART
Blast:cNMP 742 777 7e-11 BLAST
Pfam:Patatin 933 1099 1.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159808
Predicted Effect probably benign
Transcript: ENSMUST00000160338
SMART Domains Protein: ENSMUSP00000123717
Gene: ENSMUSG00000004567

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161705
Predicted Effect probably benign
Transcript: ENSMUST00000161842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162797
Predicted Effect probably benign
Transcript: ENSMUST00000207146
Predicted Effect probably benign
Transcript: ENSMUST00000208002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208006
Predicted Effect probably benign
Transcript: ENSMUST00000208310
Predicted Effect probably benign
Transcript: ENSMUST00000208943
Predicted Effect probably benign
Transcript: ENSMUST00000208306
Predicted Effect probably benign
Transcript: ENSMUST00000208359
Predicted Effect probably benign
Transcript: ENSMUST00000208762
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit premature death around 8 months of age preceeded by weight loss, weakness, lethargy, bladder and stomach distension, and retinal degradation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,663,582 (GRCm38) D64G possibly damaging Het
Ano2 T A 6: 126,039,279 (GRCm38) M925K possibly damaging Het
Arnt2 T C 7: 84,347,512 (GRCm38) T69A probably damaging Het
Asap2 T A 12: 21,212,809 (GRCm38) N229K possibly damaging Het
Atp13a3 T A 16: 30,362,734 (GRCm38) N23Y probably benign Het
Cbr4 G A 8: 61,490,593 (GRCm38) G91R possibly damaging Het
Cdc27 A T 11: 104,515,418 (GRCm38) C624S probably benign Het
Cdc42bpg T A 19: 6,310,815 (GRCm38) I201N probably damaging Het
Cdh5 A G 8: 104,142,577 (GRCm38) Y645C probably damaging Het
Celsr2 C T 3: 108,413,943 (GRCm38) V518I probably damaging Het
Clca4b T C 3: 144,912,060 (GRCm38) T761A possibly damaging Het
Cpne4 C A 9: 104,925,770 (GRCm38) S204R probably damaging Het
Dcaf1 T C 9: 106,863,650 (GRCm38) W1279R probably damaging Het
Dennd4a C T 9: 64,911,755 (GRCm38) P1731S probably damaging Het
Dmxl1 T A 18: 49,870,984 (GRCm38) V892D possibly damaging Het
Fam131b A G 6: 42,321,248 (GRCm38) probably null Het
Fam83b T A 9: 76,491,850 (GRCm38) D657V possibly damaging Het
Fam83e T A 7: 45,722,363 (GRCm38) probably null Het
Fbxo4 A T 15: 3,977,819 (GRCm38) I121N probably damaging Het
Gabrg2 A G 11: 41,968,820 (GRCm38) S202P probably damaging Het
Gm10471 T C 5: 26,084,718 (GRCm38) E237G probably damaging Het
Grid2 T A 6: 64,663,162 (GRCm38) I788N probably damaging Het
Grik4 T A 9: 42,688,023 (GRCm38) N53Y probably damaging Het
Hipk2 A C 6: 38,730,867 (GRCm38) probably null Het
Hps5 T C 7: 46,789,196 (GRCm38) T38A probably damaging Het
Hs1bp3 A G 12: 8,341,843 (GRCm38) D315G possibly damaging Het
Kdm4a C T 4: 118,138,876 (GRCm38) M985I probably damaging Het
Kdm5d A G Y: 900,525 (GRCm38) Y190C probably damaging Het
Krt86 T C 15: 101,476,610 (GRCm38) S295P probably damaging Het
Matr3 T A 18: 35,587,738 (GRCm38) D413E probably benign Het
Mbd5 T A 2: 49,274,645 (GRCm38) F319L probably damaging Het
Mpdz C A 4: 81,285,474 (GRCm38) E1863* probably null Het
Mrps9 A G 1: 42,895,378 (GRCm38) E173G probably damaging Het
Olfr8 A T 10: 78,955,357 (GRCm38) I51F probably benign Het
Osmr T C 15: 6,821,047 (GRCm38) T692A probably benign Het
Pkhd1l1 A T 15: 44,578,588 (GRCm38) H3641L possibly damaging Het
Pml T C 9: 58,233,182 (GRCm38) T421A possibly damaging Het
Podxl A G 6: 31,528,456 (GRCm38) probably null Het
Ppargc1b C G 18: 61,309,093 (GRCm38) D591H probably damaging Het
Prkag3 A G 1: 74,748,816 (GRCm38) probably benign Het
Proz A G 8: 13,073,448 (GRCm38) R240G probably benign Het
Ptpn13 C A 5: 103,476,960 (GRCm38) D43E probably damaging Het
Rbm5 T G 9: 107,760,326 (GRCm38) K135N probably damaging Het
Ska1 G A 18: 74,197,528 (GRCm38) T201M probably damaging Het
Slc35f5 A C 1: 125,587,363 (GRCm38) probably null Het
Slc9a3 T C 13: 74,161,723 (GRCm38) L510P probably damaging Het
Svil A G 18: 5,082,828 (GRCm38) K1231E probably damaging Het
Tanc2 T C 11: 105,922,613 (GRCm38) S1628P possibly damaging Het
Tm9sf3 T A 19: 41,240,584 (GRCm38) D260V probably damaging Het
Ttc9 G T 12: 81,631,622 (GRCm38) R73L probably damaging Het
Vps13b A G 15: 35,917,061 (GRCm38) I3684V probably damaging Het
Vps8 T C 16: 21,461,439 (GRCm38) probably null Het
Vwa3b T A 1: 37,076,439 (GRCm38) I328N probably damaging Het
Wdr1 C T 5: 38,530,023 (GRCm38) V222M probably benign Het
Xpnpep1 T A 19: 52,997,008 (GRCm38) T530S probably damaging Het
Zc3h6 C T 2: 128,993,277 (GRCm38) S111F probably benign Het
Zfp768 G A 7: 127,344,546 (GRCm38) P137S probably benign Het
Other mutations in Mcoln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Mcoln1 APN 8 3,507,558 (GRCm38) missense possibly damaging 0.89
IGL01621:Mcoln1 APN 8 3,510,910 (GRCm38) missense probably damaging 1.00
IGL02147:Mcoln1 APN 8 3,508,379 (GRCm38) missense probably benign
IGL02156:Mcoln1 APN 8 3,512,657 (GRCm38) nonsense probably null
R0616:Mcoln1 UTSW 8 3,515,025 (GRCm38) missense probably benign 0.00
R1498:Mcoln1 UTSW 8 3,512,861 (GRCm38) missense probably damaging 1.00
R2102:Mcoln1 UTSW 8 3,511,731 (GRCm38) missense probably damaging 1.00
R2155:Mcoln1 UTSW 8 3,511,787 (GRCm38) missense probably damaging 1.00
R2178:Mcoln1 UTSW 8 3,508,766 (GRCm38) missense probably damaging 1.00
R2218:Mcoln1 UTSW 8 3,505,813 (GRCm38) missense possibly damaging 0.50
R3828:Mcoln1 UTSW 8 3,500,601 (GRCm38) missense possibly damaging 0.93
R3875:Mcoln1 UTSW 8 3,508,355 (GRCm38) missense probably benign
R3971:Mcoln1 UTSW 8 3,507,408 (GRCm38) missense probably benign 0.01
R4621:Mcoln1 UTSW 8 3,505,923 (GRCm38) missense probably damaging 1.00
R4622:Mcoln1 UTSW 8 3,505,923 (GRCm38) missense probably damaging 1.00
R4659:Mcoln1 UTSW 8 3,510,840 (GRCm38) missense probably damaging 1.00
R4873:Mcoln1 UTSW 8 3,507,422 (GRCm38) missense probably benign 0.00
R4875:Mcoln1 UTSW 8 3,507,422 (GRCm38) missense probably benign 0.00
R4914:Mcoln1 UTSW 8 3,507,483 (GRCm38) nonsense probably null
R5114:Mcoln1 UTSW 8 3,510,697 (GRCm38) unclassified probably benign
R5586:Mcoln1 UTSW 8 3,510,389 (GRCm38) missense probably damaging 1.00
R5946:Mcoln1 UTSW 8 3,508,701 (GRCm38) missense probably damaging 1.00
R6520:Mcoln1 UTSW 8 3,505,855 (GRCm38) missense probably damaging 1.00
R7449:Mcoln1 UTSW 8 3,507,285 (GRCm38) missense probably damaging 0.98
R7712:Mcoln1 UTSW 8 3,505,873 (GRCm38) missense probably damaging 0.99
R7904:Mcoln1 UTSW 8 3,508,356 (GRCm38) missense probably benign
R7936:Mcoln1 UTSW 8 3,505,924 (GRCm38) missense probably damaging 1.00
R8058:Mcoln1 UTSW 8 3,508,378 (GRCm38) missense probably benign
R8082:Mcoln1 UTSW 8 3,507,420 (GRCm38) missense probably benign 0.01
R8093:Mcoln1 UTSW 8 3,508,740 (GRCm38) missense possibly damaging 0.95
R9090:Mcoln1 UTSW 8 3,505,771 (GRCm38) missense probably damaging 1.00
R9271:Mcoln1 UTSW 8 3,505,771 (GRCm38) missense probably damaging 1.00
R9689:Mcoln1 UTSW 8 3,507,436 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCTCAGGACCCAGTGTCTC -3'
(R):5'- AAAGACTCGTGTGTCTGTGG -3'

Sequencing Primer
(F):5'- AGGACCCAGTGTCTCTGTCTC -3'
(R):5'- CAGAGACTTGAGTTCAATCTCTGGC -3'
Posted On 2017-02-10