Mutagenetix > Incidental Mutation

Incidental Mutation 'R5457:Mcoln3'

432799

Institutional Source

Beutler Lab

Gene Symbol

Mcoln3

Ensembl Gene

ENSMUSG00000036853

Gene Name

mucolipin 3

Synonyms

Va, varitint-waddler, TRPML3, 6720490O21Rik

MMRRC Submission

043020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R5457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145823205-145847561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145833877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 139 (I139N)

Ref Sequence

ENSEMBL: ENSMUSP00000038801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039450] [ENSMUST00000140214]

AlphaFold

Q8R4F0

Predicted Effect

probably benign
Transcript: ENSMUST00000039450
AA Change: I139N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000038801
Gene: ENSMUSG00000036853
AA Change: I139N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140214

SMART Domains

Protein: ENSMUSP00000115655
Gene: ENSMUSG00000036853

Domain	Start	End	E-Value	Type
low complexity region	24	29	N/A	INTRINSIC
transmembrane domain	63	82	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	A	8: 87,236,473 (GRCm39)	V1114L	probably benign	Het
Actr5	G	A	2: 158,477,918 (GRCm39)		probably null	Het
Adcy7	T	C	8: 89,037,649 (GRCm39)	L239P	probably damaging	Het
Afg3l1	T	A	8: 124,216,707 (GRCm39)	F315L	possibly damaging	Het
Agps	A	G	2: 75,684,596 (GRCm39)	Y188C	probably benign	Het
Akt1	T	C	12: 112,623,525 (GRCm39)	T312A	probably damaging	Het
Ang2	T	C	14: 51,433,292 (GRCm39)	Y30C	probably damaging	Het
Angpt1	G	A	15: 42,386,916 (GRCm39)	T146I	probably damaging	Het
Atg16l1	T	C	1: 87,702,813 (GRCm39)	S288P	probably damaging	Het
Atp1b2	C	T	11: 69,493,558 (GRCm39)	G4R	probably damaging	Het
Best3	T	C	10: 116,840,416 (GRCm39)	F282S	probably damaging	Het
Cdkn2b	A	G	4: 89,225,391 (GRCm39)	L98P	probably damaging	Het
Cenps	A	G	4: 149,216,094 (GRCm39)		probably null	Het
Clec16a	G	T	16: 10,363,396 (GRCm39)		probably null	Het
Cxcl13	A	T	5: 96,104,830 (GRCm39)	M1L	unknown	Het
Dcun1d4	A	T	5: 73,688,908 (GRCm39)	E149D	probably damaging	Het
Dlst	G	A	12: 85,168,914 (GRCm39)		probably null	Het
Dock10	C	A	1: 80,501,781 (GRCm39)	C1803F	probably damaging	Het
Dpp10	T	A	1: 123,339,539 (GRCm39)	K329N	possibly damaging	Het
Drosha	T	G	15: 12,926,115 (GRCm39)	Y1235D	probably benign	Het
Eif2s3y	G	A	Y: 1,016,057 (GRCm39)	G213D	probably damaging	Homo
Eps8	A	T	6: 137,489,175 (GRCm39)	S408T	probably damaging	Het
Fam171a2	T	C	11: 102,328,362 (GRCm39)	D799G	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Fcrlb	T	C	1: 170,739,726 (GRCm39)	T59A	probably damaging	Het
Fgd4	T	C	16: 16,279,873 (GRCm39)	R395G	probably benign	Het
Gm14496	A	T	2: 181,639,401 (GRCm39)	D497V	probably damaging	Het
Gpt2	A	C	8: 86,238,967 (GRCm39)	N267H	possibly damaging	Het
Grb14	A	T	2: 64,747,442 (GRCm39)	C43S	probably damaging	Het
Hjurp	T	TN	1: 88,194,247 (GRCm39)		probably null	Het
Igkv8-16	A	G	6: 70,363,689 (GRCm39)	V111A	possibly damaging	Het
Klra2	T	A	6: 131,198,852 (GRCm39)	S230C	possibly damaging	Het
Lamb3	G	A	1: 193,008,302 (GRCm39)	R245H	probably damaging	Het
Lamc3	A	G	2: 31,821,997 (GRCm39)	E1315G	probably benign	Het
Lpin2	A	G	17: 71,550,367 (GRCm39)	T672A	probably damaging	Het
Mcpt8	C	T	14: 56,319,793 (GRCm39)	C219Y	probably benign	Het
Mtcl3	A	C	10: 29,072,720 (GRCm39)	I671L	probably benign	Het
Mug2	G	T	6: 122,026,688 (GRCm39)	G541*	probably null	Het
Myo7b	G	T	18: 32,104,503 (GRCm39)		probably null	Het
Or10j2	C	T	1: 173,098,141 (GRCm39)	S133L	probably benign	Het
Or10j7	A	G	1: 173,011,180 (GRCm39)	S274P	probably damaging	Het
Or5ac22	T	C	16: 59,135,213 (GRCm39)	I186V	probably benign	Het
Or5k8	A	T	16: 58,644,796 (GRCm39)	I92N	probably damaging	Het
Or7e176	A	T	9: 20,171,574 (GRCm39)	Y146F	probably damaging	Het
Pclo	C	T	5: 14,726,157 (GRCm39)		probably benign	Het
Pdk2	C	T	11: 94,919,408 (GRCm39)	S289N	probably damaging	Het
Pex19	G	T	1: 171,958,245 (GRCm39)	G75W	probably damaging	Het
Psma3	T	G	12: 71,031,339 (GRCm39)	S26A	probably benign	Het
Pth1r	A	T	9: 110,555,522 (GRCm39)	I326N	possibly damaging	Het
Sbf2	T	C	7: 109,912,037 (GRCm39)	T1670A	probably benign	Het
Scn10a	A	G	9: 119,523,193 (GRCm39)	Y67H	probably damaging	Het
Sec16a	A	T	2: 26,330,280 (GRCm39)	D578E	probably benign	Het
Spta1	C	T	1: 174,044,759 (GRCm39)	A1465V	probably damaging	Het
Taar9	A	G	10: 23,985,003 (GRCm39)	F144L	probably damaging	Het
Tal1	T	C	4: 114,925,777 (GRCm39)	V282A	probably benign	Het
Tbrg4	C	T	11: 6,570,947 (GRCm39)	R175Q	probably damaging	Het
Tdp1	C	T	12: 99,861,005 (GRCm39)	Q215*	probably null	Het
Thsd4	A	T	9: 59,887,060 (GRCm39)	W921R	probably damaging	Het
Trrap	A	G	5: 144,786,787 (GRCm39)	E3462G	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	T	C	2: 76,541,265 (GRCm39)	E25580G	probably damaging	Het
Ttn	A	T	2: 76,776,299 (GRCm39)	I1581N	possibly damaging	Het
Vmn2r50	T	C	7: 9,781,873 (GRCm39)	T291A	probably damaging	Het
Zkscan14	T	C	5: 145,138,169 (GRCm39)	D106G	probably benign	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
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
R6915:Mcoln3	UTSW	3	145,843,011 (GRCm39)	critical splice acceptor site	probably null
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'- TTCCTCGGACTCAGCAACTG -3'
(R):5'- ATGAAGGTATCACAGGGCTTAG -3'

Sequencing Primer
(F):5'- AGCAACTGGCCCTTCTGATC -3'
(R):5'- GGTATCACAGGGCTTAGGTATAAATC -3'

Posted On

2016-10-06