Mutagenetix > Incidental Mutation

Incidental Mutation 'R6048:Cln6'

483395

Institutional Source

Beutler Lab

Gene Symbol

Cln6

Ensembl Gene

ENSMUSG00000032245

Gene Name

ceroid-lipofuscinosis, neuronal 6

Synonyms

D9Bwg1455e, 1810065L06Rik

MMRRC Submission

044216-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62746067-62759288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62751908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 44 (L44P)

Ref Sequence

ENSEMBL: ENSMUSP00000034776 (fasta)

Gene Model

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

AlphaFold

Q3U466

Predicted Effect

probably damaging
Transcript: ENSMUST00000034776
AA Change: L44P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034776
Gene: ENSMUSG00000032245
AA Change: L44P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124984

SMART Domains

Protein: ENSMUSP00000115675
Gene: ENSMUSG00000032245

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a2	T	C	9: 71,169,049 (GRCm39)	I177T	probably damaging	Het
Aopep	T	A	13: 63,388,139 (GRCm39)	F39L	probably damaging	Het
Arl4c	A	G	1: 88,629,350 (GRCm39)	S13P	possibly damaging	Het
Bst1	G	T	5: 43,976,306 (GRCm39)		probably benign	Het
Carmil3	G	A	14: 55,741,302 (GRCm39)	R1029Q	probably benign	Het
Cflar	A	G	1: 58,780,202 (GRCm39)	T269A	probably benign	Het
Clcnka	T	A	4: 141,121,798 (GRCm39)	Y236F	probably damaging	Het
Clmp	T	A	9: 40,682,405 (GRCm39)	I63N	probably damaging	Het
Col5a3	C	T	9: 20,718,915 (GRCm39)	A280T	unknown	Het
Dact2	A	G	17: 14,417,567 (GRCm39)	L211P	probably damaging	Het
Dclk2	G	T	3: 86,813,272 (GRCm39)	Q225K	probably damaging	Het
Ddx60	T	C	8: 62,453,616 (GRCm39)	F1245S	probably benign	Het
Efcab3	A	G	11: 104,835,259 (GRCm39)	K3540E	unknown	Het
Eif3i	T	C	4: 129,487,145 (GRCm39)	N240S	probably benign	Het
Enpp1	T	C	10: 24,536,152 (GRCm39)	Y416C	probably damaging	Het
Epb42	T	A	2: 120,854,889 (GRCm39)	R565S	probably benign	Het
Eral1	G	A	11: 77,966,609 (GRCm39)	P217L	probably benign	Het
Fbxl16	A	G	17: 26,035,967 (GRCm39)	Y188C	probably benign	Het
Fgd3	G	A	13: 49,427,224 (GRCm39)	P503S	probably benign	Het
Frem3	T	C	8: 81,340,062 (GRCm39)	L785P	probably benign	Het
Gadl1	A	G	9: 115,835,769 (GRCm39)		probably null	Het
Gm10787	C	T	10: 76,857,676 (GRCm39)		noncoding transcript	Het
Gm6563	A	G	19: 23,653,246 (GRCm39)	K12R	probably benign	Het
Grm5	T	C	7: 87,675,758 (GRCm39)	L424P	probably damaging	Het
H2ac11	A	G	13: 22,227,006 (GRCm39)	V31A	probably benign	Het
Il17re	T	C	6: 113,447,069 (GRCm39)	S607P	possibly damaging	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih1	A	G	14: 30,651,780 (GRCm39)	M854T	possibly damaging	Het
Kif1b	A	G	4: 149,348,086 (GRCm39)	L315P	probably damaging	Het
Ms4a6b	T	C	19: 11,497,734 (GRCm39)	V11A	possibly damaging	Het
Mxd1	C	A	6: 86,627,966 (GRCm39)	D191Y	probably damaging	Het
Nol8	T	A	13: 49,807,160 (GRCm39)		probably null	Het
Ntn4	T	A	10: 93,543,128 (GRCm39)		probably null	Het
Nxph1	A	T	6: 9,247,103 (GRCm39)	T25S	probably benign	Het
Or1n1	A	G	2: 36,749,853 (GRCm39)	V169A	probably benign	Het
Or2bd2	A	C	7: 6,443,354 (GRCm39)	T152P	possibly damaging	Het
Or3a1	A	T	11: 74,225,961 (GRCm39)	I32K	probably benign	Het
Or51f1d	A	G	7: 102,700,526 (GRCm39)	N7S	probably benign	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c219	A	G	10: 129,781,695 (GRCm39)	F79L	possibly damaging	Het
Oxsm	T	A	14: 16,242,308 (GRCm38)	M154L	possibly damaging	Het
Papolg	A	C	11: 23,841,815 (GRCm39)	I36S	probably benign	Het
Pde3b	T	A	7: 114,107,502 (GRCm39)	H544Q	probably benign	Het
Pdzd2	A	T	15: 12,592,656 (GRCm39)		probably null	Het
Prkce	C	A	17: 86,800,775 (GRCm39)	P397Q	probably benign	Het
Ralgapa2	T	C	2: 146,276,765 (GRCm39)	S492G	possibly damaging	Het
Rnf216	A	G	5: 143,054,659 (GRCm39)	Y630H	probably damaging	Het
Ruvbl1	C	T	6: 88,459,973 (GRCm39)	T211I	possibly damaging	Het
Scyl2	A	T	10: 89,481,348 (GRCm39)	D666E	probably benign	Het
Sertad2	A	G	11: 20,598,436 (GRCm39)	T211A	probably benign	Het
Sipa1l1	A	T	12: 82,487,643 (GRCm39)	Q1639L	probably benign	Het
Snx5	T	C	2: 144,101,073 (GRCm39)	D98G	probably damaging	Het
Sorcs2	G	T	5: 36,185,332 (GRCm39)		probably null	Het
Spmip2	T	C	3: 79,313,192 (GRCm39)	S89P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tmem132d	A	G	5: 128,346,181 (GRCm39)	S114P	probably benign	Het
Tns2	G	A	15: 102,019,846 (GRCm39)	G579R	probably damaging	Het
Usp37	A	T	1: 74,517,295 (GRCm39)		probably null	Het
Vmn1r79	T	C	7: 11,910,448 (GRCm39)	I110T	probably damaging	Het
Vps37a	C	T	8: 40,981,363 (GRCm39)	L69F	probably damaging	Het
Xirp2	T	A	2: 67,338,587 (GRCm39)	I276N	possibly damaging	Het
Zfp946	G	A	17: 22,673,821 (GRCm39)	E192K	probably benign	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
IGL02351:Cln6	APN	9	62,754,407 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGTTTCCCATCTAGAAAGC -3'
(R):5'- ACTTCAAGGTGGGCTACAGG -3'

Sequencing Primer
(F):5'- CCCATCTAGAAAGCATGTATGTTCTG -3'
(R):5'- CACAGGATGACAACTGGGCC -3'

Posted On

2017-07-14