Mutagenetix > Incidental Mutation

Incidental Mutation 'R9369:Cln6'

709212

Institutional Source

Beutler Lab

Gene Symbol

Cln6

Ensembl Gene

ENSMUSG00000032245

Gene Name

ceroid-lipofuscinosis, neuronal 6

Synonyms

D9Bwg1455e, 1810065L06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62746067-62759288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62754431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 158 (T158A)

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: T158A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034776
Gene: ENSMUSG00000032245
AA Change: T158A

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115675
Gene: ENSMUSG00000032245
AA Change: T39A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138276

Predicted Effect

probably benign
Transcript: ENSMUST00000141821

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
9330159F19Rik	T	A	10: 29,100,974 (GRCm39)	V449D	probably damaging	Het
Abca13	G	T	11: 9,328,444 (GRCm39)	V3506L	probably damaging	Het
Accs	G	A	2: 93,666,093 (GRCm39)	Q498*	probably null	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
C2cd2	T	C	16: 97,723,333 (GRCm39)	I61M	possibly damaging	Het
Cd22	T	C	7: 30,576,999 (GRCm39)	T103A	probably benign	Het
Cd55	A	T	1: 130,375,187 (GRCm39)	L150*	probably null	Het
Ces3b	A	G	8: 105,813,502 (GRCm39)	S258G	probably damaging	Het
Dnah7a	T	C	1: 53,543,421 (GRCm39)	K2250E	probably benign	Het
Dnah7a	T	A	1: 53,564,222 (GRCm39)	N1946Y	possibly damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Eps15	T	A	4: 109,240,034 (GRCm39)	D492E	probably damaging	Het
Ern1	A	T	11: 106,305,259 (GRCm39)	M377K	probably benign	Het
Esrrb	A	G	12: 86,517,102 (GRCm39)	D78G	probably damaging	Het
Fat2	A	T	11: 55,201,514 (GRCm39)	M520K	possibly damaging	Het
Foxb1	A	G	9: 69,666,930 (GRCm39)	L200P	probably damaging	Het
Gli2	G	T	1: 118,765,885 (GRCm39)	N755K	probably benign	Het
Gnal	A	G	18: 67,324,439 (GRCm39)		probably null	Het
Gxylt1	A	T	15: 93,172,896 (GRCm39)	F23I	possibly damaging	Het
Hsd17b13	T	A	5: 104,125,034 (GRCm39)	R50W	probably damaging	Het
Htr5b	G	C	1: 121,455,482 (GRCm39)	A146G	possibly damaging	Het
Ifi206	A	G	1: 173,301,489 (GRCm39)	F730L	unknown	Het
Ifrd2	C	T	9: 107,467,802 (GRCm39)	Q163*	probably null	Het
Ift88	A	T	14: 57,685,137 (GRCm39)	I318F	probably benign	Het
Ighv5-12	T	A	12: 113,665,985 (GRCm39)	K38*	probably null	Het
Il17rc	T	C	6: 113,449,641 (GRCm39)	S112P	probably benign	Het
Itgb7	T	C	15: 102,131,821 (GRCm39)	N254S	probably damaging	Het
Jak2	T	A	19: 29,266,203 (GRCm39)		probably null	Het
Jmjd8	A	T	17: 26,048,686 (GRCm39)	H100L	unknown	Het
Kcnh4	T	C	11: 100,648,428 (GRCm39)	E92G	probably damaging	Het
Kif13a	T	C	13: 46,940,099 (GRCm39)	I989V	probably damaging	Het
Kif5b	A	T	18: 6,223,584 (GRCm39)	N308K	probably damaging	Het
Loxl3	A	T	6: 83,027,393 (GRCm39)	T683S	probably benign	Het
Macf1	C	T	4: 123,349,150 (GRCm39)		probably null	Het
Met	A	G	6: 17,492,228 (GRCm39)	K330R	probably benign	Het
Mideas	A	G	12: 84,219,670 (GRCm39)	V428A	probably benign	Het
Mybl1	T	C	1: 9,742,829 (GRCm39)	E593G	probably damaging	Het
N4bp2	T	G	5: 65,964,259 (GRCm39)	D769E	probably damaging	Het
Or10ak13	T	A	4: 118,639,077 (GRCm39)	Q235L	probably benign	Het
Or10j3b	A	G	1: 173,043,451 (GRCm39)	I78V	possibly damaging	Het
Or52ae7	A	G	7: 103,119,555 (GRCm39)	Y103C	probably benign	Het
Otoa	C	T	7: 120,744,840 (GRCm39)	A866V	probably benign	Het
Pak4	A	G	7: 28,260,240 (GRCm39)	L492P	probably damaging	Het
Pctp	A	T	11: 89,876,938 (GRCm39)	L187H	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf8-ps	T	G	17: 33,285,579 (GRCm39)	T408P	probably damaging	Het
Pik3ap1	T	G	19: 41,317,743 (GRCm39)	D204A	probably damaging	Het
Pitrm1	T	C	13: 6,603,280 (GRCm39)	V110A	probably benign	Het
Prokr1	A	T	6: 87,558,407 (GRCm39)	V326E	possibly damaging	Het
Prrt2	T	C	7: 126,619,343 (GRCm39)	I41V	probably benign	Het
Psmb1	A	G	17: 15,710,478 (GRCm39)	Y24H	probably damaging	Het
Ptpdc1	C	T	13: 48,736,722 (GRCm39)	A683T	possibly damaging	Het
Ptprb	A	G	10: 116,151,057 (GRCm39)	K240E	probably benign	Het
Ranbp2	T	C	10: 58,316,486 (GRCm39)	V2402A	probably benign	Het
Rictor	T	C	15: 6,773,848 (GRCm39)	F79L	probably benign	Het
Ripk2	A	C	4: 16,127,651 (GRCm39)	S364A	probably benign	Het
S100a4	A	T	3: 90,512,394 (GRCm39)	K26*	probably null	Het
Shank1	A	G	7: 44,001,478 (GRCm39)	T1066A	unknown	Het
Slc9b2	A	G	3: 135,036,446 (GRCm39)	T417A	probably benign	Het
Slf2	C	T	19: 44,923,953 (GRCm39)	Q256*	probably null	Het
Smad5	T	C	13: 56,885,242 (GRCm39)	V450A	possibly damaging	Het
Smok3c	A	C	5: 138,063,770 (GRCm39)	D419A	probably damaging	Het
Tdpoz4	A	T	3: 93,703,741 (GRCm39)	T13S	probably damaging	Het
Tdrd6	A	T	17: 43,936,217 (GRCm39)	N1610K	probably damaging	Het
Tex19.2	A	G	11: 121,007,566 (GRCm39)	L294P	possibly damaging	Het
Tex44	T	C	1: 86,355,383 (GRCm39)	W431R	probably damaging	Het
Tmcc1	A	T	6: 116,111,050 (GRCm39)	V77E	probably benign	Het
Tmed4	A	T	11: 6,224,133 (GRCm39)	M121K	possibly damaging	Het
Trit1	T	C	4: 122,945,898 (GRCm39)	V349A	possibly damaging	Het
Txndc15	C	T	13: 55,869,507 (GRCm39)	A220V	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ufd1	T	C	16: 18,634,113 (GRCm39)		probably null	Het
Umps	T	C	16: 33,777,206 (GRCm39)	N458S	probably benign	Het
Vmn2r24	A	C	6: 123,792,357 (GRCm39)	Q561H	probably damaging	Het
Vwce	T	G	19: 10,624,061 (GRCm39)	S317R	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp977	A	T	7: 42,229,518 (GRCm39)	F336I	probably damaging	Het
Zranb3	A	T	1: 127,887,828 (GRCm39)	D866E	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
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
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'- CATCGTAATTGAGGCAGGGG -3'
(R):5'- TTTGGGTGACAGTAGACAACAG -3'

Sequencing Primer
(F):5'- GCTTATTGAGCGGTCCCC -3'
(R):5'- GTGACAGTAGACAACAGTGCCTTC -3'

Posted On

2022-04-18