Mutagenetix > Incidental Mutations

Incidental Mutation 'R3875:Mcoln1'

276790

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

TRPML1, mucolipidin, 2210015I05Rik

Accession Numbers

Is this an essential gene?

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

Stock #

R3875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3500457-3515232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3508355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 203 (D203G)

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: D203G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: D203G

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: 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

noncoding transcript
Transcript: ENSMUST00000208739

Predicted Effect

probably benign
Transcript: ENSMUST00000208943

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,434,080	S72P	probably benign	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Adgrg2	A	G	X: 160,478,996	S337G	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Baz2a	T	A	10: 128,124,110	M1419K	probably damaging	Het
Cacna1g	G	A	11: 94,437,923	T1033I	probably damaging	Het
Car12	C	A	9: 66,717,552		probably benign	Het
Cpne1	G	A	2: 156,076,282	H352Y	probably damaging	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dhodh	T	C	8: 109,594,960	D310G	probably null	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Drd5	T	G	5: 38,319,814	V50G	possibly damaging	Het
Dst	C	A	1: 34,171,247	H934Q	probably damaging	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Fbxo43	A	T	15: 36,162,103	F319L	probably benign	Het
Flii	T	C	11: 60,720,492	S418G	probably benign	Het
Glyctk	T	A	9: 106,157,621	Y82F	probably damaging	Het
Gm11353	G	T	13: 26,492,668		noncoding transcript	Het
Gm6505	T	A	3: 28,765,137		noncoding transcript	Het
Gm8332	T	C	12: 88,249,706	D132G	unknown	Het
Gpr151	A	G	18: 42,578,596	V339A	probably benign	Het
H2-T22	T	C	17: 36,040,303	I296V	probably benign	Het
Igfn1	T	C	1: 135,954,614	N2831S	probably damaging	Het
Igkv13-85	A	G	6: 68,930,500	V39A	probably damaging	Het
Irx5	A	G	8: 92,360,165	T242A	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Mlph	T	C	1: 90,928,122	C57R	probably damaging	Het
Myh13	C	A	11: 67,358,194	H1275Q	probably benign	Het
Nbeal1	T	A	1: 60,194,599		probably benign	Het
Orc5	T	A	5: 22,537,566	M115L	probably benign	Het
Pcdha6	T	A	18: 36,968,066	I104N	probably damaging	Het
Plcb4	T	C	2: 136,002,632	S157P	probably damaging	Het
Polq	A	G	16: 37,074,027	D1787G	probably damaging	Het
Prkar2b	T	G	12: 31,965,123	I142L	probably benign	Het
Ptprq	A	G	10: 107,685,104	S736P	possibly damaging	Het
Qrich2	A	T	11: 116,445,651	V2046D	probably damaging	Het
Rad21	A	T	15: 51,969,965	F373I	probably damaging	Het
Rcvrn	A	G	11: 67,700,054	I155V	probably benign	Het
Rsrc2	C	T	5: 123,736,628		probably benign	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Ssc5d	A	T	7: 4,927,262	D114V	probably damaging	Het
St6gal2	C	A	17: 55,482,697	P244Q	probably benign	Het
Tarbp1	A	G	8: 126,438,799		probably benign	Het
Tmem221	T	C	8: 71,555,755		probably null	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Trim32	A	T	4: 65,613,466	I87F	possibly damaging	Het
Tti2	A	G	8: 31,151,147	K100E	probably benign	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vps13d	A	G	4: 145,190,544	Y17H	probably damaging	Het
Zfp106	T	C	2: 120,534,613	K438E	probably benign	Het
Zfp60	T	C	7: 27,749,581	I558T	probably damaging	Het
Zzef1	A	C	11: 72,889,040	I1880L	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
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
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'- AGTGTAGCTCCAGTGGACTC -3'
(R):5'- GAAAGTGGCCTCAGCTCCAATG -3'

Sequencing Primer
(F):5'- CAGATTATAGACTTGATCCCTGGTGC -3'
(R):5'- AATGTTTGGACTCTGGCCAC -3'

Posted On

2015-04-06