Mutagenetix > Incidental Mutation

Incidental Mutation 'R8058:Mcoln1'

619545

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

2210015I05Rik, mucolipidin, TRPML1

MMRRC Submission

067495-MU

Accession Numbers

Essential gene?

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

Stock #

R8058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3550458-3565232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3558378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 211 (F211L)

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: F211L

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

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: F211L

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: ENSMUST00000160338

SMART Domains

Protein: ENSMUSP00000123717
Gene: ENSMUSG00000004567

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161842

Predicted Effect

probably benign
Transcript: ENSMUST00000208306

Predicted Effect

probably benign
Transcript: ENSMUST00000208359

Predicted Effect

probably benign
Transcript: ENSMUST00000208943

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,081,954 (GRCm39)	D769N	possibly damaging	Het
Abcb6	A	G	1: 75,156,653 (GRCm39)	L37P	possibly damaging	Het
Abcg1	G	T	17: 31,324,504 (GRCm39)	A250S	probably benign	Het
Acsf3	C	T	8: 123,540,373 (GRCm39)	H524Y	possibly damaging	Het
Agbl4	A	G	4: 110,518,039 (GRCm39)	K110R	unknown	Het
Arfgap2	G	A	2: 91,096,644 (GRCm39)		probably null	Het
B4galt4	T	C	16: 38,586,383 (GRCm39)		probably null	Het
Bex6	G	T	16: 32,005,224 (GRCm39)	D11Y	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
C8b	A	T	4: 104,647,811 (GRCm39)	D334V	probably damaging	Het
Capn11	T	C	17: 45,954,681 (GRCm39)	Q152R	probably null	Het
Ccdc171	C	A	4: 83,499,003 (GRCm39)	Q234K	probably damaging	Het
Cemip2	C	A	19: 21,829,695 (GRCm39)	A1268E	probably benign	Het
Clec2h	A	G	6: 128,650,966 (GRCm39)	D82G	probably benign	Het
Creld2	A	G	15: 88,710,632 (GRCm39)	D349G	probably damaging	Het
D430041D05Rik	A	G	2: 103,979,128 (GRCm39)	*1415Q	probably null	Het
Dnmt3a	T	C	12: 3,952,768 (GRCm39)	V755A	possibly damaging	Het
Doc2a	G	T	7: 126,450,164 (GRCm39)	V201L	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	G	T	2: 125,193,889 (GRCm39)	D1359E	possibly damaging	Het
Fcnb	T	C	2: 27,969,707 (GRCm39)	Y120C	probably damaging	Het
Fras1	T	A	5: 96,842,778 (GRCm39)	D1665E	probably benign	Het
Fry	A	T	5: 150,419,232 (GRCm39)	D524V		Het
Garem1	A	G	18: 21,281,621 (GRCm39)	L245P	probably damaging	Het
Gdf6	A	G	4: 9,859,712 (GRCm39)	S265G	probably benign	Het
Gm5591	T	C	7: 38,218,363 (GRCm39)	I837V	probably benign	Het
Gpr61	T	C	3: 108,058,211 (GRCm39)	Y150C	probably damaging	Het
Grin2b	A	T	6: 135,710,225 (GRCm39)	L1107Q	probably damaging	Het
Helb	A	G	10: 119,941,483 (GRCm39)	S402P	probably benign	Het
Htt	A	G	5: 34,977,444 (GRCm39)	T777A	probably benign	Het
Iffo2	A	G	4: 139,341,164 (GRCm39)	D383G	probably benign	Het
Ikzf3	G	T	11: 98,407,753 (GRCm39)	Y29*	probably null	Het
Ints2	A	T	11: 86,146,179 (GRCm39)	M143K	probably benign	Het
Jmjd1c	T	C	10: 67,090,274 (GRCm39)	V2292A	not run	Het
Katnip	A	G	7: 125,442,188 (GRCm39)	E725G	probably benign	Het
Lamb1	C	A	12: 31,353,046 (GRCm39)	Q916K	probably benign	Het
Lrrtm4	G	A	6: 79,999,528 (GRCm39)	M313I	probably benign	Het
Lum	A	G	10: 97,404,425 (GRCm39)	I107V	probably benign	Het
Ly6h	T	C	15: 75,437,061 (GRCm39)	E126G	probably benign	Het
Map3k5	G	A	10: 20,007,860 (GRCm39)	V1230M	probably damaging	Het
Mink1	G	A	11: 70,494,594 (GRCm39)	W258*	probably null	Het
Muc16	G	T	9: 18,571,298 (GRCm39)	S407*	probably null	Het
Ngef	G	A	1: 87,473,744 (GRCm39)	Q13*	probably null	Het
Nxpe5	T	A	5: 138,237,573 (GRCm39)	Y44*	probably null	Het
Or13d1	T	A	4: 52,971,106 (GRCm39)	L162M	probably benign	Het
Or4a77	A	G	2: 89,487,671 (GRCm39)	V38A	probably benign	Het
Or5t9	A	G	2: 86,660,052 (GRCm39)	R319G	probably benign	Het
Or7e178	T	A	9: 20,225,476 (GRCm39)	I247F	probably damaging	Het
Or8g24	A	T	9: 38,989,862 (GRCm39)	Y60N	probably damaging	Het
Or8h8	C	A	2: 86,753,151 (GRCm39)	A242S	probably benign	Het
Orc3	C	A	4: 34,595,223 (GRCm39)	E249*	probably null	Het
Otogl	A	T	10: 107,598,287 (GRCm39)	C2288S	probably damaging	Het
Pde1b	A	G	15: 103,433,238 (GRCm39)	E249G	probably damaging	Het
Phf2	T	C	13: 48,976,558 (GRCm39)	E219G	unknown	Het
Rbm19	T	A	5: 120,278,440 (GRCm39)		probably null	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Sbk2	A	G	7: 4,960,289 (GRCm39)	Y294H	possibly damaging	Het
Selenoo	T	C	15: 88,976,942 (GRCm39)	I198T	possibly damaging	Het
Sema3f	T	C	9: 107,559,800 (GRCm39)	E729G	probably benign	Het
Serpinb1b	A	T	13: 33,269,293 (GRCm39)	T9S	probably benign	Het
Sfxn4	T	C	19: 60,832,690 (GRCm39)	T235A	probably damaging	Het
Shc4	A	T	2: 125,491,154 (GRCm39)	Y461*	probably null	Het
Slc22a15	T	C	3: 101,771,926 (GRCm39)	D391G	probably benign	Het
Slc22a23	G	T	13: 34,489,167 (GRCm39)	Y239*	probably null	Het
Slc24a2	G	A	4: 86,909,750 (GRCm39)	A656V	probably damaging	Het
Slc2a5	A	T	4: 150,227,590 (GRCm39)	I470F	probably damaging	Het
Sptbn4	T	C	7: 27,063,694 (GRCm39)	E2249G	possibly damaging	Het
Tas2r139	A	T	6: 42,118,753 (GRCm39)	Q295L	probably benign	Het
Tdrd7	C	A	4: 46,034,309 (GRCm39)	S1051R	probably benign	Het
Tnfrsf18	G	A	4: 156,112,802 (GRCm39)	A163T	probably benign	Het
Ube3b	T	C	5: 114,544,846 (GRCm39)	V596A	possibly damaging	Het
Vmn2r10	T	A	5: 109,149,955 (GRCm39)	N363I	probably benign	Het
Vmn2r15	T	A	5: 109,440,956 (GRCm39)	I301F	probably damaging	Het
Yod1	C	T	1: 130,646,806 (GRCm39)	Q228*	probably null	Het
Zfp433	A	T	10: 81,556,124 (GRCm39)	K209*	probably null	Het
Zfp865	G	A	7: 5,033,445 (GRCm39)	V477I	probably benign	Het
Zfp937	T	A	2: 150,081,421 (GRCm39)	Y484N	probably benign	Het
Zfp951	T	G	5: 104,962,312 (GRCm39)	H418P	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
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
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
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'- AGTGTAGCTCCAGTGGACTCTG -3'
(R):5'- CTCAATGAAAGTGGCCTCAGC -3'

Sequencing Primer
(F):5'- ACTTGATCCCTGGTGCTAGAAAG -3'
(R):5'- GAAAGTGGCCTCAGCTCCAATG -3'

Posted On

2020-01-23