Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02351:Cln6'

289461

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cln6

Ensembl Gene

ENSMUSG00000032245

Gene Name

ceroid-lipofuscinosis, neuronal 6

Synonyms

D9Bwg1455e, 1810065L06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02351

Quality Score

Status

Chromosome

Chromosomal Location

62746067-62759288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62754407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 150 (I150V)

Ref Sequence

ENSEMBL: ENSMUSP00000034776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034776] [ENSMUST00000141821]

AlphaFold

Q3U466

Predicted Effect

probably benign
Transcript: ENSMUST00000034776
AA Change: I150V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000034776
Gene: ENSMUSG00000032245
AA Change: I150V

Domain	Start	End	E-Value	Type
Pfam:CLN6	27	306	1.3e-167	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000124984
AA Change: I31V

SMART Domains

Protein: ENSMUSP00000115675
Gene: ENSMUSG00000032245
AA Change: I31V

Domain	Start	End	E-Value	Type
Pfam:CLN6	1	64	1.3e-34	PFAM
Pfam:CLN6	68	189	2.7e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132250

Predicted Effect

probably benign
Transcript: ENSMUST00000138276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139570

Predicted Effect

probably benign
Transcript: ENSMUST00000141821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156423

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants have progressive retinal atrophy, limb paralysis, and seizures that lead to early death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Skap1	T	A	11: 96,599,382 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	Het

Other mutations in Cln6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Cln6	APN	9	62,751,900 (GRCm39)	missense	probably damaging	0.98
IGL01601:Cln6	APN	9	62,754,252 (GRCm39)	missense	probably damaging	0.99
IGL02358:Cln6	APN	9	62,754,407 (GRCm39)	missense	probably benign	0.01
boost	UTSW	9	62,754,375 (GRCm39)	missense	probably damaging	1.00
R1113:Cln6	UTSW	9	62,758,143 (GRCm39)	missense	probably damaging	1.00
R1308:Cln6	UTSW	9	62,758,143 (GRCm39)	missense	probably damaging	1.00
R3690:Cln6	UTSW	9	62,754,252 (GRCm39)	missense	possibly damaging	0.87
R3746:Cln6	UTSW	9	62,754,284 (GRCm39)	missense	probably benign
R3898:Cln6	UTSW	9	62,757,934 (GRCm39)	missense	probably damaging	1.00
R4576:Cln6	UTSW	9	62,746,231 (GRCm39)	missense	probably benign	0.35
R4996:Cln6	UTSW	9	62,757,937 (GRCm39)	missense	probably damaging	0.98
R5027:Cln6	UTSW	9	62,754,375 (GRCm39)	missense	probably damaging	1.00
R6048:Cln6	UTSW	9	62,751,908 (GRCm39)	missense	probably damaging	1.00
R7348:Cln6	UTSW	9	62,756,458 (GRCm39)	missense	probably benign	0.14
R7450:Cln6	UTSW	9	62,757,912 (GRCm39)	missense	probably damaging	1.00
R7565:Cln6	UTSW	9	62,758,039 (GRCm39)	missense	possibly damaging	0.86
R7837:Cln6	UTSW	9	62,756,330 (GRCm39)	missense
R7982:Cln6	UTSW	9	62,756,450 (GRCm39)	missense	possibly damaging	0.69
R9206:Cln6	UTSW	9	62,756,465 (GRCm39)	missense	probably benign	0.24
R9208:Cln6	UTSW	9	62,756,465 (GRCm39)	missense	probably benign	0.24
R9210:Cln6	UTSW	9	62,757,973 (GRCm39)	missense	probably damaging	1.00
R9212:Cln6	UTSW	9	62,757,973 (GRCm39)	missense	probably damaging	1.00
R9311:Cln6	UTSW	9	62,757,900 (GRCm39)	missense	probably damaging	1.00
R9369:Cln6	UTSW	9	62,754,431 (GRCm39)	missense	probably damaging	0.98
R9618:Cln6	UTSW	9	62,758,111 (GRCm39)	missense	probably damaging	0.99
R9627:Cln6	UTSW	9	62,754,303 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16