Mutagenetix > Incidental Mutation

Incidental Mutation 'R2102:Mcoln1'

230578

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

2210015I05Rik, mucolipidin, TRPML1

MMRRC Submission

040106-MU

Accession Numbers

Essential gene?

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

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3550458-3565232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3561731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 427 (R427H)

Ref Sequence

ENSEMBL: ENSMUSP00000004683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000004683] [ENSMUST00000111070] [ENSMUST00000160338] [ENSMUST00000208310] [ENSMUST00000207146] [ENSMUST00000208306] [ENSMUST00000208762] [ENSMUST00000207424] [ENSMUST00000208002] [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: R427H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: R427H

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: ENSMUST00000208310

Predicted Effect

probably benign
Transcript: ENSMUST00000208943

Predicted Effect

probably benign
Transcript: ENSMUST00000161842

Predicted Effect

probably benign
Transcript: ENSMUST00000207146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162797

Predicted Effect

probably benign
Transcript: ENSMUST00000208306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208006

Predicted Effect

probably benign
Transcript: ENSMUST00000208762

Predicted Effect

probably benign
Transcript: ENSMUST00000207424

Predicted Effect

probably benign
Transcript: ENSMUST00000208002

Predicted Effect

probably benign
Transcript: ENSMUST00000208359

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,770,934 (GRCm39)	L41P	probably damaging	Het
Abca8a	G	T	11: 109,958,878 (GRCm39)	P749T	probably damaging	Het
Acad8	A	T	9: 26,896,861 (GRCm39)	Y199*	probably null	Het
Acot12	A	T	13: 91,908,096 (GRCm39)	I93L	probably benign	Het
Acsbg3	T	A	17: 57,191,949 (GRCm39)	Y542*	probably null	Het
Actn1	C	A	12: 80,230,291 (GRCm39)	R321L	probably benign	Het
Ap3s1	A	G	18: 46,887,469 (GRCm39)	E34G	possibly damaging	Het
Armh4	A	G	14: 50,011,459 (GRCm39)	Y83H	probably damaging	Het
Atp5f1a	T	C	18: 77,870,017 (GRCm39)	S533P	probably damaging	Het
Bcorl1	T	C	X: 47,458,081 (GRCm39)	V538A	probably benign	Het
Cdhr4	A	G	9: 107,875,206 (GRCm39)	T689A	probably damaging	Het
Cdk19	A	T	10: 40,355,726 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,928,554 (GRCm39)	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,421,585 (GRCm39)	S456P	probably benign	Het
Cst11	T	C	2: 148,613,160 (GRCm39)	Y55C	probably damaging	Het
Ctif	T	G	18: 75,654,452 (GRCm39)	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,500,974 (GRCm39)	E386A	probably benign	Het
Dcxr	A	G	11: 120,617,133 (GRCm39)	F104L	probably benign	Het
Dmbt1	G	T	7: 130,703,762 (GRCm39)	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,466,830 (GRCm39)	I567F	probably damaging	Het
Ednrb	T	A	14: 104,058,350 (GRCm39)	R318*	probably null	Het
Exd2	T	C	12: 80,527,377 (GRCm39)	I36T	possibly damaging	Het
Fam83b	A	T	9: 76,399,987 (GRCm39)	I372N	probably damaging	Het
Fbh1	A	G	2: 11,763,100 (GRCm39)	V518A	probably benign	Het
Fkbp5	T	C	17: 28,625,162 (GRCm39)	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,838,282 (GRCm39)	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,043,585 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,831 (GRCm39)	R223Q	probably damaging	Het
Gm14496	G	A	2: 181,633,127 (GRCm39)	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,532,274 (GRCm39)	V274A	probably benign	Het
Hsp90aa1	T	C	12: 110,660,566 (GRCm39)	N292S	probably damaging	Het
Ints1	C	T	5: 139,741,754 (GRCm39)	V1826M	possibly damaging	Het
Itgb4	A	G	11: 115,896,561 (GRCm39)	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,963,200 (GRCm39)	D1552G	probably damaging	Het
Kel	G	A	6: 41,663,418 (GRCm39)	T702I	possibly damaging	Het
Klf3	T	C	5: 64,979,266 (GRCm39)	V36A	probably damaging	Het
Klhl23	A	T	2: 69,659,228 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	T	7: 139,510,674 (GRCm39)	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,505,606 (GRCm39)		probably benign	Het
Krtap9-5	T	A	11: 99,840,270 (GRCm39)	C324S	unknown	Het
Lepr	T	C	4: 101,630,178 (GRCm39)	V631A	possibly damaging	Het
Lifr	T	C	15: 7,216,404 (GRCm39)	I793T	probably damaging	Het
Mgat5b	G	A	11: 116,810,255 (GRCm39)		probably benign	Het
Mmp12	G	A	9: 7,349,802 (GRCm39)	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,038,634 (GRCm39)	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,282,949 (GRCm39)	T246A	possibly damaging	Het
Myo7b	A	T	18: 32,133,031 (GRCm39)	F439L	probably damaging	Het
Myom1	A	T	17: 71,408,024 (GRCm39)	D1088V	probably damaging	Het
Nrcam	T	C	12: 44,623,471 (GRCm39)	F1004S	probably benign	Het
Palld	A	T	8: 61,986,467 (GRCm39)	M788K	possibly damaging	Het
Pappa	T	A	4: 65,234,465 (GRCm39)	Y1423*	probably null	Het
Pfkm	A	G	15: 98,027,171 (GRCm39)	K615E	probably damaging	Het
Pkd1l2	G	T	8: 117,808,208 (GRCm39)	D105E	probably damaging	Het
Plekha5	G	A	6: 140,518,603 (GRCm39)	A297T	probably damaging	Het
Plxnb1	T	A	9: 108,944,810 (GRCm39)	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,162,949 (GRCm39)	T524A	probably damaging	Het
Psg26	T	C	7: 18,209,067 (GRCm39)	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,014,586 (GRCm39)	D1225G	probably benign	Het
Rep15	A	G	6: 146,934,403 (GRCm39)		probably null	Het
Rgl2	G	A	17: 34,152,314 (GRCm39)		probably null	Het
Rpl7a	T	G	2: 26,801,473 (GRCm39)	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,250,108 (GRCm39)	I158F	probably benign	Het
Scaper	A	T	9: 55,819,334 (GRCm39)	V127E	probably benign	Het
Sele	T	A	1: 163,881,395 (GRCm39)	C501S	probably damaging	Het
Serpina11	C	T	12: 103,949,104 (GRCm39)	V358I	probably benign	Het
Slc16a4	A	G	3: 107,211,819 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,055,656 (GRCm39)	I82V	probably benign	Het
Smarca5	T	C	8: 81,431,304 (GRCm39)	E971G	probably damaging	Het
Smr2	T	C	5: 88,256,595 (GRCm39)	L91P	probably damaging	Het
Spata31f3	T	A	4: 42,868,558 (GRCm39)	H355L	probably benign	Het
Spopfm2	A	T	3: 94,082,973 (GRCm39)	C279*	probably null	Het
Srrm2	A	G	17: 24,036,722 (GRCm39)		probably benign	Het
Sting1	A	T	18: 35,868,290 (GRCm39)	M270K	probably damaging	Het
Syne1	A	G	10: 5,006,514 (GRCm39)	W7980R	probably damaging	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tmem171	A	T	13: 98,828,851 (GRCm39)	F100I	probably damaging	Het
Tnfrsf10b	A	G	14: 70,013,546 (GRCm39)	T159A	probably benign	Het
Tph1	A	T	7: 46,309,834 (GRCm39)		probably null	Het
Trim46	A	T	3: 89,142,504 (GRCm39)	I638N	probably damaging	Het
Ubl7	G	A	9: 57,827,825 (GRCm39)	D171N	probably damaging	Het
Utp20	A	G	10: 88,608,779 (GRCm39)	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,129,334 (GRCm39)	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,897,505 (GRCm39)	V148E	probably damaging	Het
Zbed3	A	G	13: 95,472,615 (GRCm39)	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,484,962 (GRCm39)	L99Q	probably benign	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
R0616:Mcoln1	UTSW	8	3,565,025 (GRCm39)	missense	probably benign	0.00
R1498:Mcoln1	UTSW	8	3,562,861 (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'- TCCCATCCAGCTGAGTCCAG -3'
(R):5'- GCTGACCTGTGGCTTTCAC -3'

Sequencing Primer
(F):5'- CAGCTGTGGTATGTTCTAGACTCC -3'
(R):5'- CATGTGTATACAGAGTACATACACG -3'

Posted On

2014-09-18