Mutagenetix > Incidental Mutations

Incidental Mutation 'R8093:Mcoln1'

630001

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 #

R8093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3500457-3515232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3508740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 246 (I246N)

Ref Sequence

ENSEMBL: ENSMUSP00000004683 (fasta)

Gene Model

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

AlphaFold

Q99J21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004683
AA Change: I246N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: I246N

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: ENSMUST00000161842

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: 99.2%
20x: 98.3%

Validation Efficiency

100% (60/60)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,851,504	T745S	possibly damaging	Het
Abca12	T	C	1: 71,280,393	I1777V	probably benign	Het
Abhd6	T	C	14: 8,028,353	L28P	probably damaging	Het
Angpt1	T	A	15: 42,476,477	E279D	probably benign	Het
Arfgef2	A	G	2: 166,894,657	M1750V	probably benign	Het
Atrn	T	C	2: 130,975,988	F821L	probably benign	Het
Cbx3	A	G	6: 51,481,768	E71G	possibly damaging	Het
Ccdc14	G	A	16: 34,709,652	A482T	probably damaging	Het
Cdh15	G	T	8: 122,866,835	A723S	probably damaging	Het
Cyp2a12	A	G	7: 27,036,629	S488G	probably damaging	Het
Ddx55	C	A	5: 124,556,820	H104N	possibly damaging	Het
Det1	G	T	7: 78,843,509	T249N	possibly damaging	Het
Disp3	A	G	4: 148,270,516	S348P	possibly damaging	Het
Dnah6	T	G	6: 73,160,913	N936T	probably damaging	Het
Dnajc11	A	T	4: 151,969,900	N188Y	probably damaging	Het
Etaa1	G	A	11: 17,947,559	T186I	possibly damaging	Het
Fam160a1	T	C	3: 85,672,804	D698G	probably benign	Het
Ftl1-ps1	T	A	13: 74,407,019	V139E	probably benign	Het
Fzd10	A	G	5: 128,602,239	K341R	probably benign	Het
Galnt7	A	G	8: 57,532,705	Y544H	probably benign	Het
Gm11487	A	T	4: 73,403,522	V92E	probably damaging	Het
Gm21190	T	A	5: 15,525,816	I181F	possibly damaging	Het
Gm3604	T	C	13: 62,369,549	N332D	probably damaging	Het
Gm47996	G	T	1: 151,210,304	E45D	possibly damaging	Het
Gm5475	T	A	15: 100,424,012	L14Q	unknown	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gpr182	T	C	10: 127,750,914	Y56C	probably damaging	Het
Gxylt2	T	A	6: 100,733,227	W110R	probably damaging	Het
Hivep3	G	T	4: 120,095,435	R316L	possibly damaging	Het
Hnf1a	T	C	5: 114,955,277	T310A	probably benign	Het
Igkv6-32	A	G	6: 70,074,563	F8L	probably benign	Het
Kcnq1	A	G	7: 143,362,652	N550D	probably damaging	Het
Lrrc40	T	G	3: 158,051,782	Y249*	probably null	Het
Lrrc43	T	A	5: 123,501,129	M407K	probably benign	Het
Map2k6	A	C	11: 110,482,585	E21D	probably benign	Het
Myh2	A	G	11: 67,188,710	K998E	probably damaging	Het
Myo1b	C	T	1: 51,757,875		probably null	Het
Numbl	T	A	7: 27,281,036	M481K	possibly damaging	Het
Nxpe4	G	T	9: 48,396,552	V319F	probably benign	Het
Pam	C	A	1: 97,885,632	D358Y	probably damaging	Het
Papola	A	G	12: 105,809,577	M251V	probably damaging	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Prelid2	A	G	18: 41,932,635	S112P	probably damaging	Het
Ptgfrn	T	C	3: 101,056,437	T620A	probably benign	Het
Ptgfrn	C	T	3: 101,072,941	R361Q	probably benign	Het
Pygm	T	A	19: 6,386,042	M148K	probably damaging	Het
Ren1	T	A	1: 133,360,074	I382N	probably damaging	Het
Rev1	T	C	1: 38,075,016		probably benign	Het
Sdsl	T	C	5: 120,459,952	K159E	probably benign	Het
Serinc4	T	C	2: 121,454,953	N203S	possibly damaging	Het
Slc12a2	A	G	18: 57,879,351	H182R	probably benign	Het
Sned1	C	A	1: 93,274,665	T677K	possibly damaging	Het
Ston2	G	A	12: 91,743,686	T3I	probably damaging	Het
Tnf	T	C	17: 35,201,096	T77A	probably benign	Het
Trav6-2	G	A	14: 52,667,669	G49E	probably benign	Het
Trav7-4	A	T	14: 53,461,683	I96F	probably damaging	Het
Trmu	T	A	15: 85,882,720	D43E	probably benign	Het
Uggt1	T	A	1: 36,227,485	Q136L	probably damaging	Het
Ugt1a5	T	A	1: 88,166,582	Y177*	probably null	Het
Vmn1r126	T	C	7: 21,300,591	R293G	probably damaging	Het
Vmn2r89	A	G	14: 51,456,242	I350V	probably benign	Het
Vps11	A	T	9: 44,356,232	L361Q	probably damaging	Het
Zfp467	A	G	6: 48,443,432	L5P	possibly damaging	Het
Zfp652	A	G	11: 95,749,462	H71R	probably damaging	Het
Zfp804b	T	C	5: 6,770,082	K994E	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
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
R8082:Mcoln1	UTSW	8	3507420	missense	probably benign	0.01
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'- TCACCCAGTGACCTATCAGG -3'
(R):5'- ATGACAGCTGGTCCATGTC -3'

Sequencing Primer
(F):5'- CTATCAGGTCGCTGAGTGAGC -3'
(R):5'- ACAGCTGGTCCATGTCCTAGC -3'

Posted On

2020-06-30