Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Mcoln3'

539269

Institutional Source

Beutler Lab

Gene Symbol

Mcoln3

Ensembl Gene

ENSMUSG00000036853

Gene Name

mucolipin 3

Synonyms

Va, varitint-waddler, TRPML3, 6720490O21Rik

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145823205-145847561 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 145843011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039450]

AlphaFold

Q8R4F0

Predicted Effect

probably null
Transcript: ENSMUST00000039450

SMART Domains

Protein: ENSMUSP00000038801
Gene: ENSMUSG00000036853

Domain	Start	End	E-Value	Type
low complexity region	24	29	N/A	INTRINSIC
transmembrane domain	286	308	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC
Pfam:PKD_channel	360	508	3.5e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Heterozygotes show normal/diluted/white hair patches, circling, hyperactivity, deafness, and reduced fertility. Homozygotes are white with small patches of color and show severe behavioral abnormalities, poor postnatal viability and are nearly infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,422,390 (GRCm39)	L334I	probably damaging	Het
Akap9	T	A	5: 4,010,551 (GRCm39)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,816,173 (GRCm39)	F314V	probably null	Het
Arid5b	G	A	10: 68,022,042 (GRCm39)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,200,834 (GRCm39)	L778*	probably null	Het
BC024139	G	T	15: 76,004,221 (GRCm39)	N739K	probably benign	Het
Carns1	T	G	19: 4,219,912 (GRCm39)	H441P	probably benign	Het
Cby2	T	A	14: 75,830,098 (GRCm39)	T32S	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,523 (GRCm39)	W394R	probably damaging	Het
Cfap70	T	A	14: 20,459,153 (GRCm39)	I693F	probably benign	Het
Cldn3	A	G	5: 135,015,426 (GRCm39)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,796,686 (GRCm39)	P1608L	probably benign	Het
Cr2	T	A	1: 194,853,454 (GRCm39)	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,424,512 (GRCm39)	I269F	probably damaging	Het
Dapk1	A	T	13: 60,844,256 (GRCm39)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,759,771 (GRCm39)	L292*	probably null	Het
Dhx38	T	C	8: 110,286,231 (GRCm39)	E353G	probably benign	Het
Dnm3	T	C	1: 162,145,966 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,762,488 (GRCm39)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,321,500 (GRCm39)	V351D	possibly damaging	Het
Epg5	T	A	18: 78,022,380 (GRCm39)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,898,388 (GRCm39)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,289,044 (GRCm39)	V160F	probably benign	Het
Gak	A	T	5: 108,750,816 (GRCm39)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,360,104 (GRCm39)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Havcr2	C	T	11: 46,366,738 (GRCm39)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,237,711 (GRCm39)	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,510,444 (GRCm39)	G200S	probably damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,058,952 (GRCm39)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,562,293 (GRCm39)	N26D	probably damaging	Het
Lyst	T	A	13: 13,900,629 (GRCm39)	D3168E	probably benign	Het
Map6	G	A	7: 98,917,454 (GRCm39)	A76T	probably damaging	Het
Muc4	T	C	16: 32,587,312 (GRCm39)	F2718L	probably benign	Het
Nek11	C	G	9: 105,270,256 (GRCm39)		probably benign	Het
Or10n7-ps1	T	C	9: 39,597,832 (GRCm39)	E136G	unknown	Het
Or2z8	C	A	8: 72,811,574 (GRCm39)	L17I	probably benign	Het
Or4d6	A	G	19: 12,086,490 (GRCm39)	V140A	probably benign	Het
Pcdh15	A	T	10: 74,479,641 (GRCm39)	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,858,998 (GRCm39)	T18M	probably benign	Het
Per3	T	C	4: 151,128,106 (GRCm39)	M61V	possibly damaging	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,156,947 (GRCm39)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,789,035 (GRCm39)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,800,835 (GRCm39)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,680,501 (GRCm39)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,239,627 (GRCm39)	R257L	probably benign	Het
Rptor	T	G	11: 119,647,171 (GRCm39)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm39)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,760,487 (GRCm39)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,820,110 (GRCm39)	V379L	possibly damaging	Het
Sox8	C	T	17: 25,786,888 (GRCm39)	V272I	probably damaging	Het
Stard9	C	T	2: 120,533,111 (GRCm39)	H3123Y	probably benign	Het
Taar9	C	T	10: 23,984,910 (GRCm39)	E175K	possibly damaging	Het
Tinag	T	A	9: 76,908,897 (GRCm39)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,965,687 (GRCm39)	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,118,342 (GRCm39)	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,657 (GRCm39)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,945,286 (GRCm39)	D297G	probably benign	Het
Ulk4	A	G	9: 121,087,886 (GRCm39)	F269L	probably benign	Het
Vps39	A	T	2: 120,151,512 (GRCm39)	Y738*	probably null	Het

Other mutations in Mcoln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Mcoln3	APN	3	145,839,683 (GRCm39)	missense	probably damaging	1.00
IGL01106:Mcoln3	APN	3	145,843,019 (GRCm39)	missense	probably benign	0.01
IGL01712:Mcoln3	APN	3	145,834,019 (GRCm39)	unclassified	probably benign
IGL02115:Mcoln3	APN	3	145,843,056 (GRCm39)	missense	probably damaging	0.99
IGL02116:Mcoln3	APN	3	145,839,664 (GRCm39)	missense	probably benign	0.29
P4717OSA:Mcoln3	UTSW	3	145,830,504 (GRCm39)	missense	probably damaging	0.99
R0463:Mcoln3	UTSW	3	145,846,331 (GRCm39)	nonsense	probably null
R1981:Mcoln3	UTSW	3	145,846,345 (GRCm39)	nonsense	probably null
R2056:Mcoln3	UTSW	3	145,833,979 (GRCm39)	missense	probably benign	0.01
R3000:Mcoln3	UTSW	3	145,839,662 (GRCm39)	missense	possibly damaging	0.62
R4366:Mcoln3	UTSW	3	145,846,247 (GRCm39)	missense	possibly damaging	0.76
R4667:Mcoln3	UTSW	3	145,836,959 (GRCm39)	missense	probably benign	0.01
R4950:Mcoln3	UTSW	3	145,845,274 (GRCm39)	missense	probably damaging	0.96
R5457:Mcoln3	UTSW	3	145,833,877 (GRCm39)	missense	probably benign	0.00
R6302:Mcoln3	UTSW	3	145,830,527 (GRCm39)	missense	probably benign	0.00
R6353:Mcoln3	UTSW	3	145,836,909 (GRCm39)	missense	probably damaging	0.99
R6632:Mcoln3	UTSW	3	145,833,942 (GRCm39)	missense	probably benign
R7790:Mcoln3	UTSW	3	145,845,247 (GRCm39)	missense	probably damaging	1.00
R7838:Mcoln3	UTSW	3	145,845,230 (GRCm39)	missense	probably damaging	1.00
R7861:Mcoln3	UTSW	3	145,830,546 (GRCm39)	missense	possibly damaging	0.95
R8348:Mcoln3	UTSW	3	145,836,974 (GRCm39)	missense	probably damaging	1.00
R8509:Mcoln3	UTSW	3	145,830,647 (GRCm39)	missense	probably benign	0.00
R8708:Mcoln3	UTSW	3	145,846,276 (GRCm39)	nonsense	probably null
R8838:Mcoln3	UTSW	3	145,845,126 (GRCm39)	missense	probably damaging	1.00
R8861:Mcoln3	UTSW	3	145,845,159 (GRCm39)	missense	probably damaging	1.00
R8981:Mcoln3	UTSW	3	145,827,554 (GRCm39)	missense	probably benign
Z1176:Mcoln3	UTSW	3	145,846,221 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAACCTTAGATGTCTGTGTGTTG -3'
(R):5'- AACCTCATGACGTTGGGCAG -3'

Sequencing Primer
(F):5'- CATCACTGAATCTACTGGAGGCTG -3'
(R):5'- CTGCCTGGAGGGTCAGAATAAG -3'

Posted On

2018-11-06