Mutagenetix > Incidental Mutation

Incidental Mutation 'R2155:Mcoln1'

234723

Institutional Source

Beutler Lab

Gene Symbol

Mcoln1

Ensembl Gene

ENSMUSG00000004567

Gene Name

mucolipin 1

Synonyms

2210015I05Rik, mucolipidin, TRPML1

MMRRC Submission

040158-MU

Accession Numbers

Essential gene?

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

Stock #

R2155 (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 3561787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 446 (V446I)

Ref Sequence

ENSEMBL: ENSMUSP00000004683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000004683] [ENSMUST00000111070] [ENSMUST00000160338] [ENSMUST00000208310] [ENSMUST00000208002] [ENSMUST00000208306] [ENSMUST00000207424] [ENSMUST00000208762] [ENSMUST00000208359] [ENSMUST00000207146]

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: V446I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: V446I

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: ENSMUST00000208002

Predicted Effect

probably benign
Transcript: ENSMUST00000208306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208006

Predicted Effect

probably benign
Transcript: ENSMUST00000161842

Predicted Effect

probably benign
Transcript: ENSMUST00000207424

Predicted Effect

probably benign
Transcript: ENSMUST00000208762

Predicted Effect

probably benign
Transcript: ENSMUST00000208359

Predicted Effect

probably benign
Transcript: ENSMUST00000207146

Predicted Effect

probably benign
Transcript: ENSMUST00000208943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162797

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 16,939,260 (GRCm39)	L41P	probably damaging	Het
Aff4	C	T	11: 53,290,446 (GRCm39)	L469F	probably damaging	Het
AI182371	G	A	2: 34,975,366 (GRCm39)	H288Y	probably benign	Het
AK157302	A	T	13: 21,679,827 (GRCm39)	K118*	probably null	Het
Arhgef2	G	A	3: 88,543,351 (GRCm39)	R454Q	probably damaging	Het
Asb17	C	T	3: 153,550,322 (GRCm39)	T118M	probably damaging	Het
Atp7b	A	G	8: 22,503,600 (GRCm39)	V718A	possibly damaging	Het
Cdca2	A	G	14: 67,952,287 (GRCm39)	L28S	probably damaging	Het
Cdh20	G	T	1: 109,976,594 (GRCm39)	L86F	probably damaging	Het
Cela2a	A	T	4: 141,545,350 (GRCm39)		probably null	Het
Cers3	T	A	7: 66,433,162 (GRCm39)	Y160N	probably damaging	Het
Chmp2b	A	G	16: 65,343,877 (GRCm39)	V56A	probably benign	Het
Cryl1	A	G	14: 57,635,880 (GRCm39)	V9A	unknown	Het
Dmbt1	A	T	7: 130,699,305 (GRCm39)	H978L	possibly damaging	Het
Dnm1	C	T	2: 32,204,949 (GRCm39)	V673M	probably damaging	Het
Dtx4	T	A	19: 12,462,646 (GRCm39)	K378*	probably null	Het
Extl1	A	T	4: 134,090,491 (GRCm39)	M328K	possibly damaging	Het
Fcgbp	T	C	7: 27,806,628 (GRCm39)	S2199P	probably benign	Het
Glis3	G	T	19: 28,508,702 (GRCm39)	N427K	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hesx1	A	G	14: 26,723,434 (GRCm39)	E88G	probably benign	Het
Hmcn2	A	T	2: 31,350,361 (GRCm39)	Q5086L	possibly damaging	Het
Ier3	A	G	17: 36,133,101 (GRCm39)	T128A	probably benign	Het
Igsf10	G	T	3: 59,239,101 (GRCm39)	T360K	probably damaging	Het
Ilkap	A	C	1: 91,312,345 (GRCm39)	C2G	possibly damaging	Het
Itih1	A	G	14: 30,660,028 (GRCm39)	F231S	probably damaging	Het
Jrkl	A	T	9: 13,244,913 (GRCm39)	Y249*	probably null	Het
Kat6a	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	8: 23,425,663 (GRCm39)		probably benign	Het
Katnal2	A	T	18: 77,098,637 (GRCm39)	S184R	probably benign	Het
Kcnh5	T	A	12: 74,945,230 (GRCm39)		probably null	Het
Kcnj11	G	T	7: 45,748,781 (GRCm39)	L181I	probably damaging	Het
Klhl2	T	C	8: 65,202,804 (GRCm39)	T465A	probably benign	Het
Krt90	T	A	15: 101,471,046 (GRCm39)	Y72F	probably benign	Het
Lig4	G	A	8: 10,022,766 (GRCm39)	T338I	probably benign	Het
Lrrc37	T	C	11: 103,511,285 (GRCm39)	T228A	unknown	Het
Magel2	T	C	7: 62,030,540 (GRCm39)	V1148A	unknown	Het
Mak	C	A	13: 41,186,020 (GRCm39)	E549D	probably benign	Het
Marf1	G	T	16: 13,950,293 (GRCm39)	S1001Y	probably damaging	Het
Meig1	T	C	2: 3,410,290 (GRCm39)	N70S	probably benign	Het
Mfsd14a	G	A	3: 116,441,479 (GRCm39)	T108I	probably damaging	Het
Mocs1	G	A	17: 49,761,386 (GRCm39)	M493I	probably damaging	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Myh6	A	T	14: 55,191,251 (GRCm39)	D863E	probably benign	Het
Myom2	T	A	8: 15,134,555 (GRCm39)	Y453N	probably damaging	Het
Nhlh1	A	G	1: 171,881,524 (GRCm39)	I114T	probably damaging	Het
Odr4	A	G	1: 150,258,086 (GRCm39)	V183A	possibly damaging	Het
Or12j4	A	C	7: 140,046,504 (GRCm39)	H130P	probably benign	Het
Or2y3	G	T	17: 38,393,071 (GRCm39)	P266Q	probably damaging	Het
Or4k5	A	T	14: 50,386,154 (GRCm39)	M59K	probably damaging	Het
Or5k17	G	T	16: 58,746,486 (GRCm39)	F149L	probably benign	Het
Or5p80	C	G	7: 108,229,984 (GRCm39)	P262A	probably damaging	Het
Pclo	T	C	5: 14,764,309 (GRCm39)	S976P	probably benign	Het
Pde3a	G	A	6: 141,429,640 (GRCm39)	E734K	possibly damaging	Het
Pdzd2	A	T	15: 12,375,879 (GRCm39)	S1419T	probably benign	Het
Pdzd8	T	A	19: 59,288,853 (GRCm39)	Y849F	probably damaging	Het
Phldb3	A	G	7: 24,312,070 (GRCm39)	E128G	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Ppp1r35	T	C	5: 137,778,267 (GRCm39)	M254T	probably benign	Het
Ppp3ca	G	T	3: 136,596,211 (GRCm39)	R292M	possibly damaging	Het
Ptk7	T	A	17: 46,890,543 (GRCm39)	T430S	probably benign	Het
Ptrh1	T	A	2: 32,667,040 (GRCm39)	N144K	possibly damaging	Het
Rbfox1	A	G	16: 7,111,946 (GRCm39)	T211A	possibly damaging	Het
Rbpjl	A	G	2: 164,256,343 (GRCm39)	D443G	possibly damaging	Het
Rcc1	A	G	4: 132,065,360 (GRCm39)		probably null	Het
Rimbp2	G	T	5: 128,865,229 (GRCm39)	S706R	probably damaging	Het
Rsph10b	G	C	5: 143,898,074 (GRCm39)	E96D	probably benign	Het
Scn10a	A	T	9: 119,438,514 (GRCm39)	I1784K	probably benign	Het
Sfxn2	A	G	19: 46,579,985 (GRCm39)		probably null	Het
Slamf6	T	A	1: 171,765,575 (GRCm39)	L233Q	probably damaging	Het
Slc17a5	A	T	9: 78,484,455 (GRCm39)	Y102N	probably damaging	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slco1a8	T	C	6: 141,926,670 (GRCm39)	D552G	probably damaging	Het
Smg7	G	A	1: 152,716,064 (GRCm39)	T1057I	possibly damaging	Het
Speer2	T	A	16: 69,657,485 (GRCm39)	T53S	possibly damaging	Het
Srm	A	C	4: 148,676,948 (GRCm39)	I100L	probably benign	Het
Stoml3	A	C	3: 53,415,008 (GRCm39)	N267H	probably damaging	Het
Thsd7a	A	C	6: 12,379,632 (GRCm39)	C931G	probably damaging	Het
Tlr11	A	G	14: 50,598,139 (GRCm39)	I42V	probably benign	Het
Tmigd1	T	C	11: 76,800,999 (GRCm39)	V162A	probably benign	Het
Tmx3	A	G	18: 90,528,505 (GRCm39)		probably null	Het
Topors	T	A	4: 40,262,790 (GRCm39)	R165W	possibly damaging	Het
Ttc17	A	T	2: 94,196,987 (GRCm39)	S453R	possibly damaging	Het
Vmn1r49	G	T	6: 90,049,441 (GRCm39)	T187N	probably damaging	Het
Zbtb49	A	T	5: 38,371,464 (GRCm39)	V139E	possibly damaging	Het
Zfp11	T	C	5: 129,734,216 (GRCm39)	H415R	probably damaging	Het
Zfp677	A	T	17: 21,617,970 (GRCm39)	K342N	probably benign	Het
Zfp979	A	C	4: 147,697,915 (GRCm39)	C265G	possibly damaging	Het
Zfpl1	T	C	19: 6,134,459 (GRCm39)	R9G	probably damaging	Het
Zkscan8	A	T	13: 21,704,759 (GRCm39)	C321*	probably null	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
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'- TTCCCTGCCATCTGAGAGCTAG -3'
(R):5'- ACAAAACTGCTACAGGGTGC -3'

Sequencing Primer
(F):5'- CCATCTGAGAGCTAGTTGGTTTG -3'
(R):5'- TCAAGGCTACACTGTGAGACCTTG -3'

Posted On

2014-10-01