Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03118:Cln3'

409867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cln3

Ensembl Gene

ENSMUSG00000030720

Gene Name

ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)

Synonyms

battenin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

126571207-126585817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126575397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 285 (I285V)

Ref Sequence

ENSEMBL: ENSMUSP00000111973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032962] [ENSMUST00000084589] [ENSMUST00000098036] [ENSMUST00000116269] [ENSMUST00000125508] [ENSMUST00000128970] [ENSMUST00000150917]

AlphaFold

Q61124

Predicted Effect

probably null
Transcript: ENSMUST00000032962
AA Change: I285V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032962
Gene: ENSMUSG00000030720
AA Change: I285V

Domain	Start	End	E-Value	Type
Pfam:CLN3	37	438	3.5e-215	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000084589
AA Change: I285V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000081636
Gene: ENSMUSG00000030720
AA Change: I285V

Domain	Start	End	E-Value	Type
Pfam:CLN3	37	438	3.5e-215	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098036
AA Change: I261V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095644
Gene: ENSMUSG00000030720
AA Change: I261V

Domain	Start	End	E-Value	Type
Pfam:CLN3	37	414	4.3e-191	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000116269
AA Change: I285V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111973
Gene: ENSMUSG00000030720
AA Change: I285V

Domain	Start	End	E-Value	Type
Pfam:CLN3	39	437	1.6e-140	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124177

Predicted Effect

probably null
Transcript: ENSMUST00000125508

SMART Domains

Protein: ENSMUSP00000117561
Gene: ENSMUSG00000030720

Domain	Start	End	E-Value	Type
Pfam:CLN3	37	76	1.2e-17	PFAM
Pfam:CLN3	73	151	2.8e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128225

Predicted Effect

probably null
Transcript: ENSMUST00000128970

SMART Domains

Protein: ENSMUSP00000114901
Gene: ENSMUSG00000030720

Domain	Start	End	E-Value	Type
Pfam:CLN3	37	196	1.2e-87	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139766

Predicted Effect

probably benign
Transcript: ENSMUST00000150917

SMART Domains

Protein: ENSMUSP00000138688
Gene: ENSMUSG00000030720

Domain	Start	End	E-Value	Type
Pfam:CLN3	37	77	1.6e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153790

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein called battenin that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis genes, cause a number of neurodegenerative diseases collectively known as neuronal ceroid lipofuscinoses, the most common of which is juvenile neuronal ceroid-lipofuscinosis (Batten disease). Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Nullizygous mutations can result in neuronal ceroid lipofuscinosis, degeneration of the retina, cerebral cortex and cerebellum, hypertrophy of hippocampal interneuron populations, gliosis, neurological deficits, and premature death. Homozygotes for a null allele show impaired water and K+ balance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Cln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Cln3	APN	7	126575254	missense	probably damaging	1.00
IGL01603:Cln3	APN	7	126575354	missense	probably benign	0.30
IGL02216:Cln3	APN	7	126575342	critical splice donor site	probably null
IGL02440:Cln3	APN	7	126582782	missense	probably benign	0.01
R0326:Cln3	UTSW	7	126583045	start codon destroyed	probably damaging	0.96
R0610:Cln3	UTSW	7	126580189	missense	probably damaging	1.00
R1256:Cln3	UTSW	7	126583036	missense	probably damaging	0.98
R2136:Cln3	UTSW	7	126582799	missense	probably benign	0.00
R2202:Cln3	UTSW	7	126579218	missense	probably benign	0.11
R3977:Cln3	UTSW	7	126580136	splice site	probably benign
R4563:Cln3	UTSW	7	126572558	missense	probably damaging	0.98
R4690:Cln3	UTSW	7	126575393	missense	possibly damaging	0.61
R4936:Cln3	UTSW	7	126575221	missense	probably damaging	1.00
R5668:Cln3	UTSW	7	126572386	missense	probably benign	0.01
R5726:Cln3	UTSW	7	126575501	missense	probably null	0.00
R6385:Cln3	UTSW	7	126575035	missense	probably null	1.00
R6591:Cln3	UTSW	7	126579434	missense	possibly damaging	0.82
R6691:Cln3	UTSW	7	126579434	missense	possibly damaging	0.82
R6891:Cln3	UTSW	7	126582803	missense	possibly damaging	0.88
R7173:Cln3	UTSW	7	126579417	missense	probably damaging	1.00
R7214:Cln3	UTSW	7	126582770	missense	probably damaging	1.00
R7426:Cln3	UTSW	7	126581740	missense	probably benign	0.31
R7520:Cln3	UTSW	7	126581680	missense	probably damaging	1.00
R7556:Cln3	UTSW	7	126575070	missense	probably damaging	0.97
R7761:Cln3	UTSW	7	126581714	missense	probably damaging	1.00

Posted On

2016-08-02