Mutagenetix > Incidental Mutations

Incidental Mutation 'R8082:Mcoln1'

629413

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

TRPML1, mucolipidin, 2210015I05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R8082 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3500457-3515232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3507420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 142 (I142K)

Ref Sequence

ENSEMBL: ENSMUSP00000004683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004683] [ENSMUST00000160338] [ENSMUST00000208306] [ENSMUST00000208359]

AlphaFold

Q99J21

Predicted Effect

probably benign
Transcript: ENSMUST00000004683
AA Change: I142K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: I142K

Domain	Start	End	E-Value	Type
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: ENSMUST00000160338

SMART Domains

Protein: ENSMUSP00000123717
Gene: ENSMUSG00000004567

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208306

Predicted Effect

probably benign
Transcript: ENSMUST00000208359

Predicted Effect

probably benign
Transcript: ENSMUST00000208943

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,142,121		probably null	Het
4921524J17Rik	G	A	8: 85,409,839	A133V	possibly damaging	Het
AI314180	G	A	4: 58,807,852	A1672V	probably benign	Het
Amd1	A	G	10: 40,290,512	F123L	probably benign	Het
Ankrd34c	C	A	9: 89,728,715	K524N	probably damaging	Het
Bicd2	C	T	13: 49,379,053	Q372*	probably null	Het
Cadps2	T	A	6: 23,323,314	M1002L	probably damaging	Het
Calcrl	T	C	2: 84,370,442	Y86C	possibly damaging	Het
Ccdc141	T	C	2: 77,124,244	I220V	probably damaging	Het
Cep152	T	C	2: 125,586,393	T773A	probably benign	Het
Cgn	A	G	3: 94,763,061	F1029L	probably benign	Het
Cntnap5b	T	A	1: 100,379,216	M515K	probably benign	Het
Col6a6	T	A	9: 105,783,930	K327*	probably null	Het
Cspg4	A	G	9: 56,885,893	Y304C	probably damaging	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
E130309D02Rik	T	C	5: 143,311,852	R147G	probably benign	Het
Emilin3	A	C	2: 160,908,146	V561G	probably damaging	Het
Fam3c	T	A	6: 22,343,304	D12V	unknown	Het
Fam83f	T	C	15: 80,689,918	V158A	probably damaging	Het
Fgfbp1	T	C	5: 43,979,279	R224G	probably damaging	Het
Gid4	A	G	11: 60,436,447	K153E	probably damaging	Het
Gm13178	A	C	4: 144,715,327	F118C	probably damaging	Het
Gm597	T	A	1: 28,777,498	K484N	probably benign	Het
Hic2	A	G	16: 17,258,699	H464R	probably damaging	Het
Hist2h3b	C	A	3: 96,268,993	Y100*	probably null	Het
Ilvbl	C	T	10: 78,584,153	R602C	probably damaging	Het
Izumo1r	T	A	9: 14,894,077	D171V	unknown	Het
Kel	T	A	6: 41,703,490	E12V	possibly damaging	Het
Klf15	T	C	6: 90,466,484	S14P	possibly damaging	Het
Lars	T	A	18: 42,244,910	S147C	probably damaging	Het
Lgals1	C	T	15: 78,930,101	A122V	probably benign	Het
Lgsn	C	T	1: 31,204,192	H452Y	probably benign	Het
Lrrc37a	T	A	11: 103,457,422	I2816F	unknown	Het
Met	G	A	6: 17,492,313	R358Q	probably damaging	Het
Mink1	T	A	11: 70,613,277	C1276S	possibly damaging	Het
Mrc1	T	C	2: 14,248,960	M264T	probably benign	Het
Mtfr2	C	T	10: 20,353,389	T81M	probably benign	Het
Myo5c	G	A	9: 75,275,511	A811T	possibly damaging	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Naip6	T	C	13: 100,300,453	T521A	probably benign	Het
Ndufs3	T	C	2: 90,894,864	D213G	probably damaging	Het
Olfr1009	T	C	2: 85,721,480	V25A	probably benign	Het
Olfr1014	T	A	2: 85,776,700	L39I	probably benign	Het
Olfr202	T	C	16: 59,284,387	T37A	possibly damaging	Het
Olfr639	T	A	7: 104,012,690	E4V	probably benign	Het
Otog	C	T	7: 46,289,719	R2058C	probably damaging	Het
Pcdh10	A	T	3: 45,381,744	K831M	probably damaging	Het
Polr1b	A	G	2: 129,115,732	D569G	probably benign	Het
Polr3b	T	C	10: 84,656,063	L362P	probably damaging	Het
Rims2	G	T	15: 39,476,523	R871L	probably benign	Het
Shprh	T	A	10: 11,151,811	I54N	probably benign	Het
Sipa1l2	T	C	8: 125,491,809	D263G	possibly damaging	Het
Slc43a1	C	T	2: 84,856,900	R382C	probably benign	Het
Sorbs1	T	C	19: 40,365,083	R193G	probably benign	Het
Sry	T	A	Y: 2,662,589	Q357L	unknown	Het
Taar8b	T	A	10: 24,091,891	D135V	possibly damaging	Het
Tekt3	T	G	11: 63,070,230	V75G	probably benign	Het
Tm7sf2	A	G	19: 6,066,321	L198P	probably damaging	Het
Tuba1a	C	T	15: 98,950,861	V177I	probably benign	Het
Wdr60	T	A	12: 116,213,507		probably null	Het

Other mutations in Mcoln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Mcoln1	APN	8	3507558	missense	possibly damaging	0.89
IGL01621:Mcoln1	APN	8	3510910	missense	probably damaging	1.00
IGL02147:Mcoln1	APN	8	3508379	missense	probably benign
IGL02156:Mcoln1	APN	8	3512657	nonsense	probably null
R0616:Mcoln1	UTSW	8	3515025	missense	probably benign	0.00
R1498:Mcoln1	UTSW	8	3512861	missense	probably damaging	1.00
R2102:Mcoln1	UTSW	8	3511731	missense	probably damaging	1.00
R2155:Mcoln1	UTSW	8	3511787	missense	probably damaging	1.00
R2178:Mcoln1	UTSW	8	3508766	missense	probably damaging	1.00
R2218:Mcoln1	UTSW	8	3505813	missense	possibly damaging	0.50
R3828:Mcoln1	UTSW	8	3500601	missense	possibly damaging	0.93
R3875:Mcoln1	UTSW	8	3508355	missense	probably benign
R3971:Mcoln1	UTSW	8	3507408	missense	probably benign	0.01
R4621:Mcoln1	UTSW	8	3505923	missense	probably damaging	1.00
R4622:Mcoln1	UTSW	8	3505923	missense	probably damaging	1.00
R4659:Mcoln1	UTSW	8	3510840	missense	probably damaging	1.00
R4873:Mcoln1	UTSW	8	3507422	missense	probably benign	0.00
R4875:Mcoln1	UTSW	8	3507422	missense	probably benign	0.00
R4914:Mcoln1	UTSW	8	3507483	nonsense	probably null
R5114:Mcoln1	UTSW	8	3510697	unclassified	probably benign
R5586:Mcoln1	UTSW	8	3510389	missense	probably damaging	1.00
R5876:Mcoln1	UTSW	8	3510910	missense	probably damaging	1.00
R5946:Mcoln1	UTSW	8	3508701	missense	probably damaging	1.00
R6520:Mcoln1	UTSW	8	3505855	missense	probably damaging	1.00
R7449:Mcoln1	UTSW	8	3507285	missense	probably damaging	0.98
R7712:Mcoln1	UTSW	8	3505873	missense	probably damaging	0.99
R7904:Mcoln1	UTSW	8	3508356	missense	probably benign
R7936:Mcoln1	UTSW	8	3505924	missense	probably damaging	1.00
R8058:Mcoln1	UTSW	8	3508378	missense	probably benign
R8093:Mcoln1	UTSW	8	3508740	missense	possibly damaging	0.95
R9090:Mcoln1	UTSW	8	3505771	missense	probably damaging	1.00
R9271:Mcoln1	UTSW	8	3505771	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAACACCATTGCCTTCCG -3'
(R):5'- GCCTACACACCCCATAGTTAGG -3'

Sequencing Primer
(F):5'- ACTCTGATGGGTCTGATGACACC -3'
(R):5'- ACCCCATAGTTAGGCCCTG -3'

Posted On

2020-06-30