Incidental Mutation 'R2178:Mcoln1'
ID 237004
Institutional Source Beutler Lab
Gene Symbol Mcoln1
Ensembl Gene ENSMUSG00000004567
Gene Name mucolipin 1
Synonyms 2210015I05Rik, mucolipidin, TRPML1
MMRRC Submission 040180-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R2178 (G1)
Quality Score 135
Status Not validated
Chromosome 8
Chromosomal Location 3550458-3565232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3558766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 255 (T255A)
Ref Sequence ENSEMBL: ENSMUSP00000004683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004683] [ENSMUST00000160338] [ENSMUST00000208306] [ENSMUST00000208359]
AlphaFold Q99J21
Predicted Effect probably damaging
Transcript: ENSMUST00000004683
AA Change: T255A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: T255A

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 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 probably benign
Transcript: ENSMUST00000208943
Predicted Effect probably benign
Transcript: ENSMUST00000208306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162797
Predicted Effect probably benign
Transcript: ENSMUST00000208359
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 A T 15: 98,492,236 (GRCm39) N1007K probably damaging Het
Apon C A 10: 128,090,634 (GRCm39) A104E probably benign Het
Cdh15 T A 8: 123,591,715 (GRCm39) probably null Het
Cep135 T C 5: 76,779,297 (GRCm39) V769A probably benign Het
Cep152 A T 2: 125,421,954 (GRCm39) probably null Het
Clca3a1 T C 3: 144,711,863 (GRCm39) N711D probably damaging Het
Col1a2 T C 6: 4,531,143 (GRCm39) F731L unknown Het
Cpt1b T C 15: 89,303,246 (GRCm39) E603G probably damaging Het
Cspp1 T G 1: 10,174,471 (GRCm39) D641E possibly damaging Het
Ddr2 C T 1: 169,822,251 (GRCm39) R399Q probably benign Het
Dzip1 T C 14: 119,126,816 (GRCm39) probably null Het
Greb1 A G 12: 16,746,388 (GRCm39) V1294A probably damaging Het
Hmgb4 A G 4: 128,154,275 (GRCm39) S98P probably damaging Het
Kif12 G A 4: 63,085,196 (GRCm39) P515L probably benign Het
Kmt5b A C 19: 3,865,372 (GRCm39) E789A possibly damaging Het
Lama1 G T 17: 68,076,510 (GRCm39) V1095F probably benign Het
Leprot T C 4: 101,513,308 (GRCm39) V32A probably benign Het
Mertk G A 2: 128,634,984 (GRCm39) E765K probably damaging Het
Muc5b A G 7: 141,417,853 (GRCm39) T3600A possibly damaging Het
Ncapd3 A T 9: 26,999,845 (GRCm39) E1395V probably benign Het
Ntrk2 T C 13: 58,956,616 (GRCm39) F25S probably benign Het
Or2a5 A G 6: 42,873,732 (GRCm39) M116V probably benign Het
Or6z1 G T 7: 6,504,487 (GRCm39) A246D probably damaging Het
Or7c70 T A 10: 78,683,612 (GRCm39) I46F probably damaging Het
Pappa C A 4: 65,269,924 (GRCm39) H1613N probably benign Het
Polq T C 16: 36,883,191 (GRCm39) V1785A probably damaging Het
Pramel23 A T 4: 143,424,612 (GRCm39) I277K possibly damaging Het
Prkar2a T C 9: 108,617,737 (GRCm39) probably null Het
Qrich2 T C 11: 116,334,603 (GRCm39) D2194G probably damaging Het
Rnf183 T C 4: 62,346,333 (GRCm39) N155S probably benign Het
S1pr5 T C 9: 21,155,760 (GRCm39) N222S probably benign Het
Scnn1a C T 6: 125,307,965 (GRCm39) R170C probably damaging Het
Slc25a2 T C 18: 37,771,311 (GRCm39) T73A probably benign Het
Tgfb1 A G 7: 25,404,234 (GRCm39) N347S probably damaging Het
Ticrr T C 7: 79,315,433 (GRCm39) V229A probably benign Het
Tjp3 T C 10: 81,115,941 (GRCm39) E313G probably benign Het
Tnfsf11 A G 14: 78,521,682 (GRCm39) S176P probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vps39 C A 2: 120,154,160 (GRCm39) E612* probably null Het
Vwf T A 6: 125,619,095 (GRCm39) Y1258N possibly damaging Het
Other mutations in Mcoln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Mcoln1 APN 8 3,557,558 (GRCm39) missense possibly damaging 0.89
IGL01621:Mcoln1 APN 8 3,560,910 (GRCm39) missense probably damaging 1.00
IGL02147:Mcoln1 APN 8 3,558,379 (GRCm39) missense probably benign
IGL02156:Mcoln1 APN 8 3,562,657 (GRCm39) nonsense probably null
R0616:Mcoln1 UTSW 8 3,565,025 (GRCm39) missense probably benign 0.00
R1498:Mcoln1 UTSW 8 3,562,861 (GRCm39) missense probably damaging 1.00
R2102:Mcoln1 UTSW 8 3,561,731 (GRCm39) missense probably damaging 1.00
R2155:Mcoln1 UTSW 8 3,561,787 (GRCm39) missense probably damaging 1.00
R2218:Mcoln1 UTSW 8 3,555,813 (GRCm39) missense possibly damaging 0.50
R3828:Mcoln1 UTSW 8 3,550,601 (GRCm39) missense possibly damaging 0.93
R3875:Mcoln1 UTSW 8 3,558,355 (GRCm39) missense probably benign
R3971:Mcoln1 UTSW 8 3,557,408 (GRCm39) missense probably benign 0.01
R4621:Mcoln1 UTSW 8 3,555,923 (GRCm39) missense probably damaging 1.00
R4622:Mcoln1 UTSW 8 3,555,923 (GRCm39) missense probably damaging 1.00
R4659:Mcoln1 UTSW 8 3,560,840 (GRCm39) missense probably damaging 1.00
R4873:Mcoln1 UTSW 8 3,557,422 (GRCm39) missense probably benign 0.00
R4875:Mcoln1 UTSW 8 3,557,422 (GRCm39) missense probably benign 0.00
R4914:Mcoln1 UTSW 8 3,557,483 (GRCm39) nonsense probably null
R5114:Mcoln1 UTSW 8 3,560,697 (GRCm39) unclassified probably benign
R5586:Mcoln1 UTSW 8 3,560,389 (GRCm39) missense probably damaging 1.00
R5876:Mcoln1 UTSW 8 3,560,910 (GRCm39) missense probably damaging 1.00
R5946:Mcoln1 UTSW 8 3,558,701 (GRCm39) missense probably damaging 1.00
R6520:Mcoln1 UTSW 8 3,555,855 (GRCm39) missense probably damaging 1.00
R7449:Mcoln1 UTSW 8 3,557,285 (GRCm39) missense probably damaging 0.98
R7712:Mcoln1 UTSW 8 3,555,873 (GRCm39) missense probably damaging 0.99
R7904:Mcoln1 UTSW 8 3,558,356 (GRCm39) missense probably benign
R7936:Mcoln1 UTSW 8 3,555,924 (GRCm39) missense probably damaging 1.00
R8058:Mcoln1 UTSW 8 3,558,378 (GRCm39) missense probably benign
R8082:Mcoln1 UTSW 8 3,557,420 (GRCm39) missense probably benign 0.01
R8093:Mcoln1 UTSW 8 3,558,740 (GRCm39) missense possibly damaging 0.95
R9090:Mcoln1 UTSW 8 3,555,771 (GRCm39) missense probably damaging 1.00
R9271:Mcoln1 UTSW 8 3,555,771 (GRCm39) missense probably damaging 1.00
R9689:Mcoln1 UTSW 8 3,557,436 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCACCCAGTGACCTATCAGG -3'
(R):5'- ATGACAGCTGGTCCATGTCC -3'

Sequencing Primer
(F):5'- CTATCAGGTCGCTGAGTGAGC -3'
(R):5'- AGCTGGTCCATGTCCTAGCC -3'
Posted On 2014-10-02