Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00422:Cln8'

6240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cln8

Ensembl Gene

ENSMUSG00000026317

Gene Name

ceroid-lipofuscinosis, neuronal 8

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

14881335-14901720 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14896637 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 217 (C217Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027554] [ENSMUST00000123990] [ENSMUST00000128839] [ENSMUST00000132001] [ENSMUST00000133578]

Predicted Effect

probably benign
Transcript: ENSMUST00000027554
AA Change: C217Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000027554
Gene: ENSMUSG00000026317
AA Change: C217Y

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	62	262	3.4e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123990

SMART Domains

Protein: ENSMUSP00000119031
Gene: ENSMUSG00000026317

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Blast:TLC	62	124	6e-38	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000128839

SMART Domains

Protein: ENSMUSP00000121618
Gene: ENSMUSG00000026317

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132001

Predicted Effect

probably benign
Transcript: ENSMUST00000133578

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 encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit late-onset progressive motor neuron degeneration and retinal photoreceptor degeneration. Mutants accumulate proteolipid in neuronal cytoplasm, have hindlimb weakness and ataxia, and die at 9-14 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,068,186	A359T	probably damaging	Het
Ajuba	A	T	14: 54,571,769	Y400*	probably null	Het
Cckar	T	A	5: 53,699,829	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,798,449	V253A	probably benign	Het
Cep162	T	C	9: 87,227,167	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106	E2399K	probably damaging	Het
Dchs1	A	G	7: 105,758,029	V2119A	possibly damaging	Het
Dhx33	T	C	11: 71,001,620	S108G	probably benign	Het
Dip2a	T	A	10: 76,313,236	M194L	probably benign	Het
Dnah11	T	C	12: 118,068,096	K1779R	probably damaging	Het
Fads3	T	G	19: 10,055,681	F328V	possibly damaging	Het
Flad1	A	G	3: 89,405,853		probably null	Het
Gm5346	A	G	8: 43,626,351	F279L	probably damaging	Het
Gm7535	G	T	17: 17,911,888		probably benign	Het
Gnpat	A	G	8: 124,885,013	E513G	probably damaging	Het
H2-M5	A	G	17: 36,987,840	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,675,427	R114Q	probably damaging	Het
Ide	T	C	19: 37,276,532	I903V	unknown	Het
Ifi209	T	G	1: 173,638,963	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,668,469	D248G	probably damaging	Het
Mat2b	C	A	11: 40,687,738	G41C	probably damaging	Het
Mfsd4a	T	C	1: 132,040,594	I369V	probably benign	Het
Myom1	T	A	17: 71,126,098	V1480E	probably damaging	Het
Myom2	A	T	8: 15,069,490	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,669,066	V422E	probably damaging	Het
Pkn3	G	A	2: 30,081,104	A228T	probably damaging	Het
Rad17	A	T	13: 100,629,525	I365K	probably benign	Het
Rad17	A	T	13: 100,629,523	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,161,017	C15G	probably benign	Het
Spag9	T	A	11: 94,097,866	F571I	probably benign	Het
Ttc27	T	A	17: 74,780,816	C459S	probably damaging	Het
Washc2	A	G	6: 116,256,676	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318	H490L	possibly damaging	Het

Other mutations in Cln8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Cln8	APN	8	14894689	start codon destroyed	probably null	0.99
IGL02340:Cln8	APN	8	14895178	missense	probably damaging	1.00
IGL03037:Cln8	APN	8	14894679	utr 5 prime	probably benign
IGL03213:Cln8	APN	8	14894845	missense	probably damaging	1.00
R0544:Cln8	UTSW	8	14896769	missense	probably benign	0.32
R4184:Cln8	UTSW	8	14895030	missense	probably benign	0.01
R4634:Cln8	UTSW	8	14894842	missense	probably damaging	1.00
R4925:Cln8	UTSW	8	14895004	missense	possibly damaging	0.81
R5930:Cln8	UTSW	8	14896621	missense	probably damaging	1.00
R6185:Cln8	UTSW	8	14896544	missense	probably benign	0.02
R7567:Cln8	UTSW	8	14895057	missense	probably benign	0.03
R8077:Cln8	UTSW	8	14894950	missense	probably damaging	1.00

Posted On

2012-04-20