Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Mcoln3'

607490

Institutional Source

Beutler Lab

Gene Symbol

Mcoln3

Ensembl Gene

ENSMUSG00000036853

Gene Name

mucolipin 3

Synonyms

Va, varitint-waddler, TRPML3, 6720490O21Rik

MMRRC Submission

045914-MU

Accession Numbers

Essential gene?

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

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145823205-145847561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 145830546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 92 (E92A)

Ref Sequence

ENSEMBL: ENSMUSP00000038801 (fasta)

Gene Model

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

AlphaFold

Q8R4F0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039450
AA Change: E92A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038801
Gene: ENSMUSG00000036853
AA Change: E92A

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

possibly damaging
Transcript: ENSMUST00000140214
AA Change: E92A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115655
Gene: ENSMUSG00000036853
AA Change: E92A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,797,360 (GRCm39)	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,248,075 (GRCm39)	D1175G	probably null	Het
Accs	C	A	2: 93,666,077 (GRCm39)	*503L	probably null	Het
Adgra2	A	G	8: 27,604,485 (GRCm39)	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,681,525 (GRCm39)	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,706,990 (GRCm39)	D9A	unknown	Het
Atad2	G	A	15: 57,989,176 (GRCm39)	A228V	probably benign	Het
Atp10a	T	C	7: 58,438,107 (GRCm39)	S430P	probably damaging	Het
Atp1a3	T	C	7: 24,700,573 (GRCm39)	D6G	unknown	Het
Brca1	A	T	11: 101,417,248 (GRCm39)	N295K	possibly damaging	Het
Caly	C	A	7: 139,661,301 (GRCm39)		probably benign	Het
Ces1h	A	G	8: 94,084,053 (GRCm39)	Y386H	unknown	Het
Col14a1	A	G	15: 55,308,012 (GRCm39)	D1044G	unknown	Het
Csf2rb	A	G	15: 78,233,357 (GRCm39)	D888G	probably damaging	Het
Cux1	T	C	5: 136,281,458 (GRCm39)	E568G	possibly damaging	Het
Dhrs7b	T	A	11: 60,746,568 (GRCm39)	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnah14	C	T	1: 181,444,324 (GRCm39)	P545S	probably damaging	Het
Dnajc24	A	T	2: 105,832,380 (GRCm39)	M1K	probably null	Het
Dusp12	C	T	1: 170,702,095 (GRCm39)	W301*	probably null	Het
Dyrk1a	G	T	16: 94,492,575 (GRCm39)	G603*	probably null	Het
Eif4g1	T	A	16: 20,498,452 (GRCm39)	V403E	probably benign	Het
Epn3	T	C	11: 94,387,100 (GRCm39)	E90G	probably damaging	Het
Etl4	A	G	2: 20,810,721 (GRCm39)	S1303G	probably benign	Het
Evpl	A	T	11: 116,118,895 (GRCm39)	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,493,625 (GRCm39)	L22*	probably null	Het
Fcamr	T	A	1: 130,742,375 (GRCm39)	N587K	probably benign	Het
Fgd6	A	G	10: 93,939,193 (GRCm39)	N946S	probably benign	Het
Fndc3b	A	T	3: 27,523,148 (GRCm39)	I477N	possibly damaging	Het
Grifin	C	T	5: 140,550,280 (GRCm39)	A54T	probably benign	Het
Gtf2b	A	G	3: 142,487,105 (GRCm39)	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559 (GRCm39)	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,458,788 (GRCm39)	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,420,623 (GRCm39)	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,917,322 (GRCm39)	D617E	probably damaging	Het
Kifc3	T	A	8: 95,834,165 (GRCm39)		probably null	Het
Kirrel3	C	T	9: 34,931,419 (GRCm39)	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,443,820 (GRCm39)	V132I	probably benign	Het
Kmt2a	A	G	9: 44,730,031 (GRCm39)	S3429P	unknown	Het
Lama1	T	G	17: 68,116,216 (GRCm39)	L2361R		Het
Lrp1b	T	C	2: 40,587,570 (GRCm39)	D3895G		Het
Myo3b	T	C	2: 69,939,032 (GRCm39)	M135T	probably damaging	Het
Mysm1	A	G	4: 94,835,204 (GRCm39)	*820Q	probably null	Het
Ncoa7	A	G	10: 30,567,056 (GRCm39)	S541P	probably benign	Het
Nup54	T	C	5: 92,578,952 (GRCm39)	T33A	unknown	Het
Or10al2	C	A	17: 37,983,408 (GRCm39)	Q165K	possibly damaging	Het
Or13a17	T	G	7: 140,271,484 (GRCm39)	I222S	probably damaging	Het
Or1s2	T	C	19: 13,758,810 (GRCm39)	V276A	possibly damaging	Het
Or4k42	T	A	2: 111,320,369 (GRCm39)	I45F	probably damaging	Het
Or51a5	T	A	7: 102,771,899 (GRCm39)	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414 (GRCm39)	C18R	probably benign	Het
Pde4d	A	G	13: 110,071,858 (GRCm39)	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pidd1	C	A	7: 141,020,055 (GRCm39)	W598L	probably damaging	Het
Pira2	A	T	7: 3,847,543 (GRCm39)	C49S	probably damaging	Het
Pramel11	T	C	4: 143,624,288 (GRCm39)	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,550,935 (GRCm39)	D135E	probably benign	Het
Rab15	T	A	12: 76,849,903 (GRCm39)	Y88F	probably damaging	Het
Rem2	C	A	14: 54,715,256 (GRCm39)	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,301,406 (GRCm39)	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,295,666 (GRCm39)	Q119*	probably null	Het
Suclg2	G	T	6: 95,571,703 (GRCm39)	Q120K	probably benign	Het
Tacc2	T	A	7: 130,227,161 (GRCm39)	M1282K	probably benign	Het
Tbc1d5	T	A	17: 51,063,720 (GRCm39)	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,709,590 (GRCm39)	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,087,435 (GRCm39)	F1184Y	probably benign	Het
Trim28	T	A	7: 12,762,339 (GRCm39)	V321E	possibly damaging	Het
Trim5	C	A	7: 103,915,675 (GRCm39)		probably null	Het
Ugt2b37	A	T	5: 87,390,299 (GRCm39)	Y382*	probably null	Het
Usp40	C	T	1: 87,909,852 (GRCm39)	G534D	probably damaging	Het
Usp53	A	T	3: 122,728,112 (GRCm39)	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,235,829 (GRCm39)	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,449,351 (GRCm39)	I296F	probably benign	Het
Vps13a	T	C	19: 16,632,668 (GRCm39)	S2563G	probably damaging	Het
Wdr59	A	G	8: 112,220,912 (GRCm39)	F207L		Het
Zan	A	G	5: 137,405,295 (GRCm39)	S3777P	unknown	Het
Zfp277	T	C	12: 40,365,880 (GRCm39)	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,745,749 (GRCm39)	R10W	probably damaging	Het
Zfp384	A	T	6: 125,013,288 (GRCm39)	H452L	probably damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve28	A	T	5: 34,374,487 (GRCm39)	L509Q	probably damaging	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
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
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'- TGTCCCCATAGTCATACTGGAC -3'
(R):5'- TCTTTCTCCCAAGAATGCACAC -3'

Sequencing Primer
(F):5'- GGGATTTGAACTCAGGTCCTCATAC -3'
(R):5'- GTAAGGCCCAGAGTTTAACCCTTG -3'

Posted On

2019-12-20