Mutagenetix > Incidental Mutation

Incidental Mutation 'R4996:Cln6'

385264

Institutional Source

Beutler Lab

Gene Symbol

Cln6

Ensembl Gene

ENSMUSG00000032245

Gene Name

ceroid-lipofuscinosis, neuronal 6

Synonyms

D9Bwg1455e, 1810065L06Rik

MMRRC Submission

042590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4996 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62746067-62759288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62757937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 232 (I232N)

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: I232N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034776
Gene: ENSMUSG00000032245
AA Change: I232N

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

Predicted Effect

unknown
Transcript: ENSMUST00000124984
AA Change: I114N

SMART Domains

Protein: ENSMUSP00000115675
Gene: ENSMUSG00000032245
AA Change: I114N

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

probably benign
Transcript: ENSMUST00000141821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156423

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Actl11	A	G	9: 107,808,934 (GRCm39)	I1086V	possibly damaging	Het
Adgrv1	T	C	13: 81,726,853 (GRCm39)	S500G	probably benign	Het
Ahcyl1	A	T	3: 107,575,603 (GRCm39)	V394E	probably damaging	Het
Alg9	T	C	9: 50,720,005 (GRCm39)	F494L	probably damaging	Het
Ankrd55	C	A	13: 112,492,622 (GRCm39)	D264E	possibly damaging	Het
Asb14	A	G	14: 26,634,073 (GRCm39)	N426S	possibly damaging	Het
Atm	A	T	9: 53,435,807 (GRCm39)	F168I	probably benign	Het
Atp13a4	A	T	16: 29,290,822 (GRCm39)	I209N	probably damaging	Het
BB014433	A	T	8: 15,092,166 (GRCm39)	L229Q	probably benign	Het
Calml3	T	C	13: 3,854,142 (GRCm39)	D21G	probably damaging	Het
Capn10	A	G	1: 92,872,858 (GRCm39)	N528S	probably damaging	Het
Ccnl2	T	A	4: 155,897,981 (GRCm39)	D141E	possibly damaging	Het
Cd163	A	G	6: 124,296,106 (GRCm39)	I817V	probably benign	Het
Cgnl1	CTTGCCCAGGTT	CTT	9: 71,632,108 (GRCm39)		probably benign	Het
Col22a1	A	C	15: 71,879,010 (GRCm39)	V49G	probably damaging	Het
Csmd1	A	T	8: 15,960,452 (GRCm39)	M3321K	probably damaging	Het
Cyp2u1	T	A	3: 131,091,933 (GRCm39)	M196L	probably benign	Het
Dlec1	T	G	9: 118,975,118 (GRCm39)	L1566R	probably damaging	Het
Dnajc3	A	G	14: 119,209,839 (GRCm39)	T305A	probably benign	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Efhd1	G	T	1: 87,192,280 (GRCm39)	G37W	possibly damaging	Het
Exph5	G	C	9: 53,286,910 (GRCm39)	E1330D	possibly damaging	Het
Fbln2	A	T	6: 91,242,992 (GRCm39)	Y913F	probably benign	Het
Fmnl1	G	A	11: 103,073,482 (GRCm39)	S167N	possibly damaging	Het
Frs3	A	G	17: 48,012,635 (GRCm39)	E114G	probably damaging	Het
Gmpr2	T	C	14: 55,914,252 (GRCm39)	I169T	probably damaging	Het
Gria2	A	G	3: 80,614,448 (GRCm39)	S531P	probably damaging	Het
Hace1	G	A	10: 45,526,046 (GRCm39)	A296T	probably benign	Het
Ift70a1	C	T	2: 75,810,266 (GRCm39)	G606S	probably benign	Het
Inhbb	A	C	1: 119,348,548 (GRCm39)	L90R	probably damaging	Het
Insr	C	T	8: 3,242,665 (GRCm39)	R18Q	probably null	Het
Kdm6b	G	T	11: 69,296,557 (GRCm39)	P570Q	probably damaging	Het
Lama3	T	C	18: 12,651,800 (GRCm39)	V1803A	probably benign	Het
Lpin3	T	A	2: 160,747,207 (GRCm39)	L811Q	probably damaging	Het
Lrrc8e	C	T	8: 4,285,166 (GRCm39)	L464F	probably damaging	Het
Micall2	A	G	5: 139,696,344 (GRCm39)	S729P	probably benign	Het
Naca	C	T	10: 127,878,298 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,393,709 (GRCm39)	S1010T	probably damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,085,172 (GRCm39)	F136I	possibly damaging	Het
Nup210	A	T	6: 91,030,418 (GRCm39)	F137Y	probably benign	Het
Or1o3	A	G	17: 37,573,758 (GRCm39)	S266P	probably benign	Het
Or3a1c	A	G	11: 74,046,157 (GRCm39)	H59R	probably damaging	Het
Or8k32	T	C	2: 86,368,615 (GRCm39)	I215V	probably benign	Het
Otog	C	A	7: 45,948,030 (GRCm39)	H2344N	possibly damaging	Het
Otog	C	A	7: 45,954,934 (GRCm39)	C517*	probably null	Het
Pcdhac1	C	T	18: 37,225,580 (GRCm39)	Q798*	probably null	Het
Pdhx	T	C	2: 102,860,657 (GRCm39)	D330G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Pgr	C	A	9: 8,900,914 (GRCm39)	P149Q	probably damaging	Het
Plaat1	G	A	16: 29,036,456 (GRCm39)	W31*	probably null	Het
Ppm1h	A	T	10: 122,777,245 (GRCm39)	I504F	probably damaging	Het
Ppp6r3	A	G	19: 3,523,833 (GRCm39)	S556P	probably damaging	Het
Ranbp9	G	A	13: 43,578,570 (GRCm39)	Q168*	probably null	Het
Relb	A	T	7: 19,349,528 (GRCm39)	L259Q	probably benign	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Rgcc	T	C	14: 79,527,716 (GRCm39)	D125G	possibly damaging	Het
Rmnd5b	A	G	11: 51,518,735 (GRCm39)	V86A	probably damaging	Het
Slc15a5	G	A	6: 138,020,583 (GRCm39)	T250M	probably damaging	Het
Slc7a2	A	T	8: 41,365,599 (GRCm39)	K477*	probably null	Het
Slx9	A	T	10: 77,351,367 (GRCm39)	W14R	probably null	Het
Smc2	T	A	4: 52,461,042 (GRCm39)		probably null	Het
Sox5	A	T	6: 143,974,070 (GRCm39)	L226*	probably null	Het
Sp140l2	G	T	1: 85,224,815 (GRCm39)	A240E	probably benign	Het
Syne2	A	G	12: 75,990,724 (GRCm39)	E1903G	possibly damaging	Het
Tenm3	A	T	8: 48,688,861 (GRCm39)	I2226N	probably damaging	Het
Tmtc3	A	T	10: 100,283,086 (GRCm39)	I823N	probably damaging	Het
Top6bl	T	A	19: 4,676,112 (GRCm39)	K673N	probably benign	Het
Tor3a	T	C	1: 156,483,342 (GRCm39)	Y360C	probably damaging	Het
Trpc3	T	C	3: 36,716,967 (GRCm39)	E357G	probably benign	Het
Tubgcp6	A	T	15: 88,987,693 (GRCm39)	N1093K	possibly damaging	Het
Vmn1r64	T	A	7: 5,887,052 (GRCm39)	T164S	probably benign	Het
Vmn2r40	T	A	7: 8,911,166 (GRCm39)	Q709L	probably damaging	Het
Vmn2r81	A	T	10: 79,129,247 (GRCm39)	I713L	probably benign	Het
Washc5	T	C	15: 59,205,484 (GRCm39)	T686A	probably benign	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- ACACTCGGTCCACTCACTAG -3'
(R):5'- AAGCCTCACTGTTGACTGCTAAC -3'

Sequencing Primer
(F):5'- CACTAGGTGAGATGTTCCGATTGAC -3'
(R):5'- CACTGTTGACTGCTAACGTGGAG -3'

Posted On

2016-05-10