Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Mcoln1'

376732

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

2210015I05Rik, mucolipidin, TRPML1

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R4875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3550458-3565232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3557422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 143 (S143T)

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: S143T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: S143T

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: 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

0.1539

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,532,771 (GRCm39)		probably benign	Het
Ctso	C	T	3: 81,849,688 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dll3	A	G	7: 27,995,860 (GRCm39)	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Helz	T	A	11: 107,528,560 (GRCm39)		probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcns1	T	C	2: 164,010,021 (GRCm39)	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mospd4	G	T	18: 46,598,804 (GRCm39)		noncoding transcript	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ndufv1	T	C	19: 4,062,653 (GRCm39)		probably null	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10a49	A	T	7: 108,467,993 (GRCm39)	F123I	probably damaging	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Prox1	A	C	1: 189,894,319 (GRCm39)	F42C	probably damaging	Het
Pwwp2b	A	T	7: 138,835,978 (GRCm39)	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,726,316 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tgif2-ps2	A	G	17: 40,426,274 (GRCm39)		noncoding transcript	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Tpx2	C	A	2: 152,735,535 (GRCm39)	A721E	probably benign	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tuba8	T	A	6: 121,203,042 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Wdr4	A	G	17: 31,718,129 (GRCm39)	V315A	probably benign	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	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
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
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'- AGAGAACACCATTGCCTTCC -3'
(R):5'- GCCTACACACCCCATAGTTAGG -3'

Sequencing Primer
(F):5'- ACTCTGATGGGTCTGATGACACC -3'
(R):5'- ACCCCATAGTTAGGCCCTG -3'

Posted On

2016-03-17