Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Mcoln1'

379820

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

TRPML1, mucolipidin, 2210015I05Rik

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3500457-3515232 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 3507483 bp (GRCm38)

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
5430403G16Rik	A	G	5: 109,678,530	S59P	probably damaging	Het
Ace	G	A	11: 105,979,597	V281M	probably damaging	Het
Ap1b1	C	T	11: 5,024,400	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,423,125	E171G	probably benign	Het
Arhgef1	T	A	7: 24,923,839	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,749,096	D276E	probably damaging	Het
AU040320	A	T	4: 126,835,676	K544*	probably null	Het
Baz2b	T	A	2: 59,914,043	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886	D324G	probably damaging	Het
Bdp1	A	G	13: 100,056,336	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,827,471	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Cabs1	T	C	5: 87,980,437	Y316H	probably damaging	Het
Carmil2	A	G	8: 105,693,543	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,218,219	P86Q	probably benign	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dclk2	A	T	3: 86,824,742		probably null	Het
Dennd5a	A	G	7: 109,901,089	F943S	probably damaging	Het
Disp2	A	T	2: 118,790,454	S556C	probably damaging	Het
Dpp4	A	T	2: 62,347,892	M632K	probably benign	Het
E030030I06Rik	G	A	10: 22,114,298	T192M	possibly damaging	Het
Ece2	C	T	16: 20,644,070	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Emc1	C	T	4: 139,375,165	R924*	probably null	Het
Etaa1	A	T	11: 17,946,532	S528R	probably benign	Het
Exoc2	A	T	13: 30,876,813	N569K	probably benign	Het
Fasn	T	G	11: 120,816,646	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,438,177	V329I	probably benign	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fermt1	A	G	2: 132,906,840	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,751,169	T189A	probably benign	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
G6pd2	T	A	5: 61,810,329	Y482*	probably null	Het
Gfra1	A	T	19: 58,267,090	S308R	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gper1	A	G	5: 139,426,868	I323V	probably benign	Het
Grm5	C	A	7: 88,130,129	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,150,529	T85A	probably benign	Het
Hgsnat	A	G	8: 25,964,838	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,799,452	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,685,116	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,218,971	N344D	probably damaging	Het
Kif1c	A	G	11: 70,708,855	E471G	probably damaging	Het
Lalba	T	A	15: 98,482,180	N63I	probably benign	Het
Mllt1	T	C	17: 56,899,813	T344A	probably benign	Het
Mpzl2	T	A	9: 45,043,848	D114E	probably benign	Het
Myef2	T	A	2: 125,109,739	K259*	probably null	Het
Myh8	C	A	11: 67,292,684	D740E	probably damaging	Het
Myo1b	A	T	1: 51,824,208		probably null	Het
Nfix	T	C	8: 84,771,829	I172V	probably benign	Het
Olfr1369-ps1	A	T	13: 21,116,397	Q235L	probably benign	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr362	A	T	2: 37,105,158	I164N	possibly damaging	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Olfr90	T	C	17: 37,085,991	Y58C	probably damaging	Het
Orc1	T	C	4: 108,604,558	F584S	probably damaging	Het
Osgin1	C	A	8: 119,442,544	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,715,328	V1522L	probably benign	Het
Phactr1	A	G	13: 43,133,963	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,510,777	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,537,838	V14A	probably damaging	Het
Prkcd	A	T	14: 30,605,438		probably null	Het
Ranbp17	T	C	11: 33,213,425	S1082G	probably benign	Het
Rere	T	A	4: 150,619,144	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,510,264	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,739,550		probably benign	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455	N1649S	probably damaging	Het
Slain2	T	A	5: 72,958,266	M448K	probably benign	Het
Slc25a54	T	C	3: 109,111,079	F292L	probably benign	Het
Slc4a1	A	G	11: 102,352,453	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,669,370	V334I	probably benign	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Smg8	T	C	11: 87,080,710	E745G	probably damaging	Het
Smyd1	T	G	6: 71,219,337	I322L	probably benign	Het
Snx13	G	A	12: 35,132,033	V694I	possibly damaging	Het
Sox6	T	C	7: 115,476,964	D814G	probably damaging	Het
Spag6	A	T	2: 18,745,549	I469F	probably benign	Het
Spsb2	A	C	6: 124,809,748	E148A	probably benign	Het
Srprb	C	A	9: 103,201,948	V747L	possibly damaging	Het
Stam	A	G	2: 14,102,416	E16G	probably damaging	Het
Taar5	A	T	10: 23,971,570	I289F	possibly damaging	Het
Tgif1	C	T	17: 70,845,247	R70H	probably damaging	Het
Tmem2	G	A	19: 21,809,289	V472I	probably benign	Het
Top2a	A	T	11: 99,002,960	L1036H	probably damaging	Het
Tph1	T	A	7: 46,653,859	I232F	probably damaging	Het
Ttn	T	C	2: 76,746,831	T24573A	probably damaging	Het
Tub	C	T	7: 109,020,954	R102*	probably null	Het
Ube2n	T	A	10: 95,541,745	W129R	possibly damaging	Het
Usp8	A	T	2: 126,720,140	K85*	probably null	Het
Vmn2r81	A	T	10: 79,270,523	K445M	probably null	Het
Vps45	T	C	3: 96,019,631	T535A	probably damaging	Het
Wdr63	A	G	3: 146,066,827	I488T	probably damaging	Het
Zfp157	T	C	5: 138,456,295	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,127,701	C228*	probably null	Het
Zfp791	T	A	8: 85,110,951	I95L	probably benign	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
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
R8082:Mcoln1	UTSW	8	3507420	missense	probably benign	0.01
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
R9689:Mcoln1	UTSW	8	3507436	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