Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Mcoln1'

438717

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

TRPML1, mucolipidin, 2210015I05Rik

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3500457-3515232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3510389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 316 (C316F)

Ref Sequence

ENSEMBL: ENSMUSP00000004683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000004683] [ENSMUST00000111070] [ENSMUST00000160338] [ENSMUST00000208306] [ENSMUST00000208359]

AlphaFold

Q99J21

Predicted Effect

probably benign
Transcript: ENSMUST00000004681

SMART Domains

Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
low complexity region	67	83	N/A	INTRINSIC
low complexity region	87	101	N/A	INTRINSIC
cNMP	147	272	3.17e-13	SMART
cNMP	465	584	3.17e-4	SMART
cNMP	587	703	3.45e-5	SMART
Blast:cNMP	742	777	7e-11	BLAST
Pfam:Patatin	933	1099	5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000004683
AA Change: C316F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: C316F

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: ENSMUST00000111070

SMART Domains

Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
low complexity region	67	83	N/A	INTRINSIC
low complexity region	87	101	N/A	INTRINSIC
cNMP	147	272	3.17e-13	SMART
cNMP	465	584	3.17e-4	SMART
cNMP	587	703	3.45e-5	SMART
Blast:cNMP	742	777	7e-11	BLAST
Pfam:Patatin	933	1099	1.4e-25	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: ENSMUST00000161705

Predicted Effect

probably benign
Transcript: ENSMUST00000161842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162797

Predicted Effect

probably benign
Transcript: ENSMUST00000208306

Predicted Effect

probably benign
Transcript: ENSMUST00000208359

Predicted Effect

probably benign
Transcript: ENSMUST00000208943

Meta Mutation Damage Score

0.9438

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,503,484	I344V	probably benign	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,905,721	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Fhad1	C	T	4: 141,905,131	M1232I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mast2	A	G	4: 116,435,563	L9P	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc4a8	A	G	15: 100,787,164	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Tomm70a	A	G	16: 57,122,130	E90G	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,312,863	I344V	probably benign	Het
Zfp423	T	A	8: 87,859,340	Q61L	possibly damaging	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
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'- CCATACCAGTGTTCATCAGGG -3'
(R):5'- CGTTCCCAGAGGCTGATTTC -3'

Sequencing Primer
(F):5'- AGGGATTTTTGACACTCTCCATG -3'
(R):5'- AGAGGCTGATTTCCCGACC -3'

Posted On

2016-10-26