Mutagenetix > Incidental Mutation

Incidental Mutation 'R0616:Mcoln1'

58327

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

2210015I05Rik, mucolipidin, TRPML1

MMRRC Submission

038805-MU

Accession Numbers

Essential gene?

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

Stock #

R0616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3550458-3565232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3565025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 573 (E573G)

Ref Sequence

ENSEMBL: ENSMUSP00000004683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000004683] [ENSMUST00000111070] [ENSMUST00000208359] [ENSMUST00000208310] [ENSMUST00000208762] [ENSMUST00000208002] [ENSMUST00000207424] [ENSMUST00000207146] [ENSMUST00000207941] [ENSMUST00000208306]

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 benign
Transcript: ENSMUST00000004683
AA Change: E573G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: E573G

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

noncoding transcript
Transcript: ENSMUST00000161705

Predicted Effect

probably benign
Transcript: ENSMUST00000161842

Predicted Effect

unknown
Transcript: ENSMUST00000208359
AA Change: R125G

Predicted Effect

silent
Transcript: ENSMUST00000208943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208851

Predicted Effect

probably benign
Transcript: ENSMUST00000208310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208315

Predicted Effect

probably benign
Transcript: ENSMUST00000208762

Predicted Effect

probably benign
Transcript: ENSMUST00000208002

Predicted Effect

probably benign
Transcript: ENSMUST00000207424

Predicted Effect

probably benign
Transcript: ENSMUST00000207146

Predicted Effect

probably benign
Transcript: ENSMUST00000207941

Predicted Effect

probably benign
Transcript: ENSMUST00000208306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162797

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,341,830 (GRCm39)	Q1044K	probably damaging	Het
Abi3bp	A	T	16: 56,474,433 (GRCm39)	T723S	probably damaging	Het
Ackr3	G	A	1: 90,142,191 (GRCm39)	V217I	probably benign	Het
Acnat2	A	G	4: 49,380,269 (GRCm39)	S370P	probably damaging	Het
Arap1	A	G	7: 101,050,857 (GRCm39)	R1152G	possibly damaging	Het
Arhgap15	G	A	2: 44,006,729 (GRCm39)		probably null	Het
Arhgap5	C	T	12: 52,563,848 (GRCm39)	T273I	possibly damaging	Het
Armh4	G	T	14: 50,011,113 (GRCm39)	T198K	possibly damaging	Het
C1s2	T	C	6: 124,605,723 (GRCm39)	E332G	probably damaging	Het
Camp	G	A	9: 109,677,707 (GRCm39)	R88W	probably benign	Het
Cdkl2	A	G	5: 92,156,863 (GRCm39)	M564T	probably benign	Het
Ceacam20	A	G	7: 19,704,321 (GRCm39)	H124R	probably benign	Het
Cep19	C	T	16: 31,922,829 (GRCm39)	R32C	probably damaging	Het
Cep295	G	A	9: 15,243,618 (GRCm39)	Q1565*	probably null	Het
Chd3	T	C	11: 69,236,313 (GRCm39)	E1932G	probably damaging	Het
Cibar1	G	A	4: 12,168,234 (GRCm39)	R210*	probably null	Het
Cnr2	G	T	4: 135,644,873 (GRCm39)	W317L	probably benign	Het
Cntnap5a	C	T	1: 116,508,279 (GRCm39)	H1264Y	possibly damaging	Het
Depdc7	T	A	2: 104,557,650 (GRCm39)	N200I	probably benign	Het
Dock4	T	C	12: 40,754,414 (GRCm39)	S468P	probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Fam217a	C	A	13: 35,097,666 (GRCm39)	S55I	probably benign	Het
Farp1	G	A	14: 121,514,434 (GRCm39)	R921H	probably damaging	Het
Fat4	A	G	3: 38,997,019 (GRCm39)	D1746G	probably damaging	Het
Fbxw5	T	C	2: 25,392,517 (GRCm39)	F100L	probably damaging	Het
Gli3	C	A	13: 15,836,991 (GRCm39)	T458K	possibly damaging	Het
Gm4841	T	C	18: 60,404,009 (GRCm39)	Y28C	probably benign	Het
Gprc5d	T	C	6: 135,093,430 (GRCm39)	E159G	probably benign	Het
Grm4	A	T	17: 27,653,538 (GRCm39)	I757N	probably damaging	Het
Hagh	A	G	17: 25,076,551 (GRCm39)	Y94C	probably damaging	Het
Hycc1	T	C	5: 24,191,770 (GRCm39)	T44A	probably damaging	Het
Itpkb	T	C	1: 180,249,301 (GRCm39)	I892T	probably damaging	Het
Kcmf1	T	C	6: 72,827,467 (GRCm39)	I58V	probably benign	Het
Khdrbs2	A	G	1: 32,506,856 (GRCm39)	I167V	possibly damaging	Het
Kmt2c	A	G	5: 25,504,250 (GRCm39)	I275T	probably benign	Het
Lingo4	A	G	3: 94,310,388 (GRCm39)	K442R	probably benign	Het
Mak	T	C	13: 41,195,661 (GRCm39)	N382D	probably benign	Het
Maob	G	A	X: 16,576,402 (GRCm39)	T480I	possibly damaging	Het
Ms4a6b	G	A	19: 11,504,262 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,349,981 (GRCm39)	M576V	probably benign	Het
Nme8	T	A	13: 19,875,029 (GRCm39)	D126V	probably benign	Het
Npy2r	T	A	3: 82,448,670 (GRCm39)	D35V	possibly damaging	Het
Nrxn1	T	C	17: 90,670,285 (GRCm39)	D193G	probably damaging	Het
Or2g7	A	C	17: 38,378,131 (GRCm39)	E23A	probably damaging	Het
Or2y1e	T	C	11: 49,218,583 (GRCm39)	L115P	probably damaging	Het
Or4c10b	T	A	2: 89,711,935 (GRCm39)	V255E	probably benign	Het
Or4d5	A	T	9: 40,012,283 (GRCm39)	F168I	probably damaging	Het
Or52b4i	T	A	7: 102,191,761 (GRCm39)	M206K	possibly damaging	Het
Or6d14	A	G	6: 116,533,889 (GRCm39)	I168V	probably benign	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Or8c17	G	T	9: 38,180,630 (GRCm39)	V266L	probably benign	Het
Or8g18	G	A	9: 39,148,946 (GRCm39)	T258M	probably benign	Het
Pabpc2	A	T	18: 39,906,792 (GRCm39)	H19L	possibly damaging	Het
Pcdhb9	A	T	18: 37,535,028 (GRCm39)	K341*	probably null	Het
Pde4dip	T	C	3: 97,654,849 (GRCm39)	I859M	probably benign	Het
Pfkfb2	T	C	1: 130,634,159 (GRCm39)		probably null	Het
Pigg	C	T	5: 108,461,951 (GRCm39)	T94M	probably damaging	Het
Pik3c2b	T	C	1: 133,028,569 (GRCm39)	F1353L	probably damaging	Het
Prg4	T	C	1: 150,336,462 (GRCm39)	D87G	probably damaging	Het
Prkdc	A	T	16: 15,508,271 (GRCm39)	D974V	probably damaging	Het
Prmt3	A	G	7: 49,437,076 (GRCm39)	Y217C	probably damaging	Het
Proser1	A	G	3: 53,382,118 (GRCm39)	T192A	probably damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Rb1cc1	A	G	1: 6,314,486 (GRCm39)	K386R	possibly damaging	Het
Rcn2	A	G	9: 55,963,534 (GRCm39)	D221G	probably benign	Het
Rhbdl3	T	G	11: 80,222,687 (GRCm39)	H245Q	probably damaging	Het
Ribc1	T	C	X: 150,788,787 (GRCm39)	E204G	probably damaging	Het
Rpap1	G	A	2: 119,608,601 (GRCm39)	L254F	probably damaging	Het
Rrp12	A	G	19: 41,880,988 (GRCm39)	F148L	possibly damaging	Het
Rusf1	A	T	7: 127,871,803 (GRCm39)		probably null	Het
Setdb1	A	T	3: 95,249,109 (GRCm39)	I333K	probably damaging	Het
Simc1	A	G	13: 54,694,845 (GRCm39)	I1210V	probably benign	Het
Smchd1	T	A	17: 71,686,569 (GRCm39)	D1379V	probably benign	Het
Snap29	A	T	16: 17,240,370 (GRCm39)	K159*	probably null	Het
Spdye4c	A	T	2: 128,436,132 (GRCm39)	K176M	possibly damaging	Het
Stk31	T	A	6: 49,400,419 (GRCm39)	W415R	probably damaging	Het
Supt6	C	T	11: 78,100,321 (GRCm39)	R1497Q	probably damaging	Het
Tenm3	A	G	8: 48,729,191 (GRCm39)	I1605T	possibly damaging	Het
Ttn	T	C	2: 76,676,967 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,728,011 (GRCm39)		probably benign	Het
Ucp3	A	T	7: 100,129,368 (GRCm39)	T68S	probably benign	Het
Ugt2b36	T	C	5: 87,237,336 (GRCm39)	N316D	probably benign	Het
Usp4	T	G	9: 108,244,003 (GRCm39)	S247A	probably benign	Het
Utp20	A	T	10: 88,606,613 (GRCm39)	V1653D	probably benign	Het
Vmn1r183	A	G	7: 23,754,250 (GRCm39)	I18V	probably benign	Het
Vmn1r237	A	G	17: 21,534,885 (GRCm39)	M203V	probably damaging	Het
Vmn1r61	A	T	7: 5,613,998 (GRCm39)	F105L	possibly damaging	Het
Zfp462	T	C	4: 55,011,951 (GRCm39)	C158R	probably damaging	Het
Zfyve16	C	G	13: 92,657,637 (GRCm39)	R758P	probably damaging	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
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
R4914:Mcoln1	UTSW	8	3,557,483 (GRCm39)	nonsense	probably null
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'- GAATCGTCTCTTTCCAGCACCCAG -3'
(R):5'- TATTTAACAGCCGCCCTACATGCCC -3'

Sequencing Primer
(F):5'- TACATCGAGCAGTGCCAG -3'
(R):5'- ACATGCCCTCCCTTTCCC -3'

Posted On

2013-07-11