Mutagenetix > Incidental Mutations

Incidental Mutation 'R5946:Mcoln1'

472176

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 #

R5946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3500457-3515232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3508701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 233 (I233N)

Ref Sequence

ENSEMBL: ENSMUSP00000004683 (fasta)

Gene Model

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

AlphaFold

Q99J21

Predicted Effect

probably damaging
Transcript: ENSMUST00000004683
AA Change: I233N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: I233N

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

probably benign
Transcript: ENSMUST00000208943

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,625,952	F1137S	probably damaging	Het
Actr6	G	T	10: 89,728,192	Q73K	probably benign	Het
Adamtsl3	G	A	7: 82,576,057	G358D	probably damaging	Het
Aggf1	A	G	13: 95,371,576	V94A	probably damaging	Het
Arpc3	A	G	5: 122,403,396	Y57C	probably damaging	Het
Asb2	A	G	12: 103,321,555	Y630H	probably benign	Het
Atp1a1	A	T	3: 101,589,774	N405K	probably benign	Het
C6	G	T	15: 4,808,514	D869Y	possibly damaging	Het
Cds2	A	G	2: 132,297,248	Y137C	probably damaging	Het
Ceacam12	A	T	7: 18,069,206	E179V	probably damaging	Het
Chgb	T	A	2: 132,792,596	Y153N	probably benign	Het
Cit	T	A	5: 115,997,534	L1831Q	probably damaging	Het
Cpne8	C	A	15: 90,488,988	*578L	probably null	Het
Cspg5	A	G	9: 110,251,083	T440A	probably damaging	Het
Dnah7a	A	C	1: 53,559,308	V1393G	probably damaging	Het
Dnajb8	A	G	6: 88,222,593	D37G	probably benign	Het
Dst	A	G	1: 34,174,192	I1063M	probably benign	Het
Efs	T	G	14: 54,919,494		probably null	Het
Gpatch1	A	G	7: 35,291,832	S596P	probably damaging	Het
Hbs1l	C	A	10: 21,341,756	H190Q	probably benign	Het
Ighm	A	G	12: 113,422,709	V7A	unknown	Het
Ivd	A	T	2: 118,876,889	I295F	possibly damaging	Het
Kcnq5	A	C	1: 21,505,707	S258A	probably damaging	Het
Mad1l1	G	T	5: 140,261,579	P331Q	probably damaging	Het
Mcf2l	G	T	8: 13,013,922	G1045C	probably damaging	Het
Mmp13	T	C	9: 7,276,580	L225P	probably damaging	Het
Muc5ac	G	A	7: 141,817,907	C2615Y	possibly damaging	Het
Myh7b	T	C	2: 155,621,395	F516L	probably damaging	Het
Obsl1	A	T	1: 75,491,207	S1347R	probably damaging	Het
Ogn	A	G	13: 49,618,285	N207S	probably benign	Het
Olfr132	C	A	17: 38,130,707	A162S	probably benign	Het
Olfr874	T	A	9: 37,747,034	L300Q	probably damaging	Het
Pcdha2	G	T	18: 36,941,106	V597L	probably damaging	Het
Pcnt	T	A	10: 76,382,063	Y2126F	possibly damaging	Het
Pgbd5	A	T	8: 124,374,317	M400K	possibly damaging	Het
Pklr	A	T	3: 89,136,196	E5V	probably benign	Het
Pkp4	T	A	2: 59,305,067	D94E	probably benign	Het
Ppan	C	T	9: 20,889,673	Q111*	probably null	Het
Prkcb	A	G	7: 122,544,703	N330S	probably benign	Het
Prl4a1	T	A	13: 28,018,516	W25R	probably damaging	Het
Rars2	T	A	4: 34,656,855	H501Q	possibly damaging	Het
Ryr2	T	C	13: 11,726,953	D2114G	probably damaging	Het
Serinc2	G	T	4: 130,255,521	T351K	possibly damaging	Het
Slc22a12	A	G	19: 6,537,851	F358L	probably damaging	Het
Sorcs2	A	C	5: 36,029,083	V905G	probably damaging	Het
Tekt3	G	C	11: 63,094,747	A460P	probably damaging	Het
Tm4sf1	T	G	3: 57,292,868	I109L	possibly damaging	Het
Tmc5	A	T	7: 118,670,725	E899D	probably damaging	Het
Tmem268	C	T	4: 63,568,509	P90S	probably damaging	Het
Trim38	A	G	13: 23,782,734	M55V	probably benign	Het
Trip10	T	G	17: 57,250,963	V50G	probably damaging	Het
Usp25	T	A	16: 77,115,054	C990*	probably null	Het
Uts2	A	G	4: 150,999,049	D39G	probably benign	Het
Vezf1	T	A	11: 88,073,734	C49*	probably null	Het
Wee2	T	A	6: 40,463,212	N431K	probably null	Het
Yeats2	C	A	16: 20,207,763	Y796*	probably null	Het
Zfp592	G	A	7: 81,037,897	G890D	possibly damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably 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
R5586:Mcoln1	UTSW	8	3510389	missense	probably damaging	1.00
R5876:Mcoln1	UTSW	8	3510910	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'- TGAGGCCACTTTCATTGAGTC -3'
(R):5'- CATGACAGCTGGTCCATGTC -3'

Sequencing Primer
(F):5'- GAGGCCACTTTCATTGAGTCAATAGG -3'
(R):5'- ATGACAGCTGGTCCATGTC -3'

Posted On

2017-03-31