Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Mcoln1'

379820

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

2210015I05Rik, mucolipidin, TRPML1

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3550458-3565232 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 3557483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 163 (L163*)

Ref Sequence

ENSEMBL: ENSMUSP00000004683 (fasta)

Gene Model

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

AlphaFold

Q99J21

Predicted Effect

probably null
Transcript: ENSMUST00000004683
AA Change: L163*

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: L163*

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

noncoding transcript
Transcript: ENSMUST00000159538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159808

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

noncoding transcript
Transcript: ENSMUST00000162797

Predicted Effect

probably benign
Transcript: ENSMUST00000208306

Predicted Effect

probably benign
Transcript: ENSMUST00000208359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208739

Predicted Effect

probably benign
Transcript: ENSMUST00000208943

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,870,423 (GRCm39)	V281M	probably damaging	Het
Ap1b1	C	T	11: 4,974,400 (GRCm39)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,623,264 (GRCm39)	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,887,159 (GRCm39)	D276E	probably damaging	Het
AU040320	A	T	4: 126,729,469 (GRCm39)	K544*	probably null	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,192,844 (GRCm39)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cabs1	T	C	5: 88,128,296 (GRCm39)	Y316H	probably damaging	Het
Carmil2	A	G	8: 106,420,175 (GRCm39)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,036,083 (GRCm39)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cemip2	G	A	19: 21,786,653 (GRCm39)	V472I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnai3	A	G	3: 145,772,582 (GRCm39)	I488T	probably damaging	Het
Dpp4	A	T	2: 62,178,236 (GRCm39)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 21,990,197 (GRCm39)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,462,820 (GRCm39)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Emc1	C	T	4: 139,102,476 (GRCm39)	R924*	probably null	Het
Etaa1	A	T	11: 17,896,532 (GRCm39)	S528R	probably benign	Het
Exoc2	A	T	13: 31,060,796 (GRCm39)	N569K	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,267,245 (GRCm39)	V329I	probably benign	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,748,760 (GRCm39)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,581,513 (GRCm39)	T189A	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,967,672 (GRCm39)	Y482*	probably null	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gper1	A	G	5: 139,412,623 (GRCm39)	I323V	probably benign	Het
Grm5	C	A	7: 87,779,337 (GRCm39)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,369,503 (GRCm39)	T85A	probably benign	Het
Hgsnat	A	G	8: 26,454,866 (GRCm39)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,787,884 (GRCm39)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,054,750 (GRCm39)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,599,681 (GRCm39)	E471G	probably damaging	Het
Lalba	T	A	15: 98,380,061 (GRCm39)	N63I	probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mpzl2	T	A	9: 44,955,146 (GRCm39)	D114E	probably benign	Het
Myef2	T	A	2: 124,951,659 (GRCm39)	K259*	probably null	Het
Myh8	C	A	11: 67,183,510 (GRCm39)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,863,367 (GRCm39)		probably null	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or2h2	T	C	17: 37,396,883 (GRCm39)	Y58C	probably damaging	Het
Or2w1b	A	T	13: 21,300,567 (GRCm39)	Q235L	probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Orc1	T	C	4: 108,461,755 (GRCm39)	F584S	probably damaging	Het
Osgin1	C	A	8: 120,169,283 (GRCm39)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,622,644 (GRCm39)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,287,439 (GRCm39)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,446,265 (GRCm39)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,327,395 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,163,425 (GRCm39)	S1082G	probably benign	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,487,248 (GRCm39)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,877,613 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slain2	T	A	5: 73,115,609 (GRCm39)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,018,395 (GRCm39)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Smg8	T	C	11: 86,971,536 (GRCm39)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,196,321 (GRCm39)	I322L	probably benign	Het
Snx13	G	A	12: 35,182,032 (GRCm39)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Srprb	C	A	9: 103,079,147 (GRCm39)	V747L	possibly damaging	Het
Stam	A	G	2: 14,107,227 (GRCm39)	E16G	probably damaging	Het
Taar5	A	T	10: 23,847,468 (GRCm39)	I289F	possibly damaging	Het
Tgif1	C	T	17: 71,152,242 (GRCm39)	R70H	probably damaging	Het
Top2a	A	T	11: 98,893,786 (GRCm39)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,303,283 (GRCm39)	I232F	probably damaging	Het
Ttn	T	C	2: 76,577,175 (GRCm39)	T24573A	probably damaging	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ube2n	T	A	10: 95,377,607 (GRCm39)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,106,357 (GRCm39)	K445M	probably null	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Zfp1007	A	G	5: 109,826,396 (GRCm39)	S59P	probably damaging	Het
Zfp157	T	C	5: 138,454,557 (GRCm39)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,275,567 (GRCm39)	C228*	probably null	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Mcoln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R2178:Mcoln1	UTSW	8	3,558,766 (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
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'- GCTGTGGACCAGGTATAGTGAG -3'
(R):5'- AGCACACTGTACATTCCTGG -3'

Sequencing Primer
(F):5'- CCAGGTATAGTGAGCAGGCGTTAG -3'
(R):5'- CCTCACTATGGGATTCTAGGCAAG -3'

Posted On

2016-04-15