Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02677:Klc2'

303163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klc2

Ensembl Gene

ENSMUSG00000024862

Gene Name

kinesin light chain 2

Synonyms

8030455F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02677

Quality Score

Status

Chromosome

Chromosomal Location

5107746-5118560 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5111668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 298 (Y298C)

Ref Sequence

ENSEMBL: ENSMUSP00000112262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025798] [ENSMUST00000025804] [ENSMUST00000113727] [ENSMUST00000113728] [ENSMUST00000116563] [ENSMUST00000156717]

AlphaFold

no structure available at present

PDB Structure

Crystal structure of the TPR domain of kinesin light chain 2 in complex with a tryptophan-acidic cargo peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025798
AA Change: Y298C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: Y298C

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	69	239	4.1e-64	PFAM
Pfam:TPR_10	197	238	9.5e-9	PFAM
TPR	240	273	6.19e-1	SMART
TPR	282	315	1.16e-5	SMART
TPR	324	357	2.16e0	SMART
TPR	366	399	1.6e-3	SMART
Pfam:TPR_10	448	483	1.5e-4	PFAM
low complexity region	496	507	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC
low complexity region	592	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025804

SMART Domains

Protein: ENSMUSP00000025804
Gene: ENSMUSG00000024870

Domain	Start	End	E-Value	Type
RAB	9	172	4.57e-105	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113727
AA Change: Y298C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: Y298C

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	69	239	4.1e-64	PFAM
Pfam:TPR_10	197	238	9.5e-9	PFAM
TPR	240	273	6.19e-1	SMART
TPR	282	315	1.16e-5	SMART
TPR	324	357	2.16e0	SMART
TPR	366	399	1.6e-3	SMART
Pfam:TPR_10	448	483	1.5e-4	PFAM
low complexity region	496	507	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC
low complexity region	592	615	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113728
AA Change: Y298C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: Y298C

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	69	239	4.1e-64	PFAM
Pfam:TPR_10	197	238	9.5e-9	PFAM
TPR	240	273	6.19e-1	SMART
TPR	282	315	1.16e-5	SMART
TPR	324	357	2.16e0	SMART
TPR	366	399	1.6e-3	SMART
Pfam:TPR_10	448	483	1.5e-4	PFAM
low complexity region	496	507	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC
low complexity region	592	615	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000116563
AA Change: Y298C

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

SMART Domains

Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: Y298C

Domain	Start	End	E-Value	Type
coiled coil region	80	140	N/A	INTRINSIC
Pfam:TPR_10	197	238	3.1e-9	PFAM
TPR	240	273	6.19e-1	SMART
TPR	282	315	1.16e-5	SMART
TPR	324	357	2.16e0	SMART
TPR	366	399	1.6e-3	SMART
low complexity region	416	428	N/A	INTRINSIC
Pfam:TPR_10	450	486	1.1e-4	PFAM
low complexity region	498	509	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	594	617	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149806

Predicted Effect

probably benign
Transcript: ENSMUST00000156717

SMART Domains

Protein: ENSMUSP00000122458
Gene: ENSMUSG00000024862

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	69	167	6.9e-30	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	T	7: 43,501,095	Y84*	probably null	Het
4931406P16Rik	T	A	7: 34,242,409		probably benign	Het
Adam5	A	G	8: 24,812,379		probably benign	Het
Aipl1	T	C	11: 72,029,396	E282G	possibly damaging	Het
Akp3	A	G	1: 87,125,272	D61G	probably damaging	Het
Anpep	A	G	7: 79,838,730	S451P	probably damaging	Het
Csnka2ip	A	G	16: 64,478,312	L119P	probably damaging	Het
Ddx19a	T	C	8: 110,989,609	E53G	probably benign	Het
Ddx50	C	T	10: 62,616,293	R116Q	unknown	Het
Ddx60	A	T	8: 61,988,132	E1078D	probably damaging	Het
Dpy19l1	T	C	9: 24,485,072	D116G	probably damaging	Het
Dsg4	A	G	18: 20,464,876	T668A	possibly damaging	Het
Dspp	A	G	5: 104,175,977	T329A	possibly damaging	Het
Eftud2	T	C	11: 102,846,614	T554A	probably damaging	Het
Enpp1	T	C	10: 24,679,185		probably benign	Het
Ext2	A	T	2: 93,707,245	F599I	probably damaging	Het
Fahd1	A	T	17: 24,849,530	I191N	probably damaging	Het
Fcrls	A	T	3: 87,259,387	S100T	probably benign	Het
Fras1	T	A	5: 96,545,024	C181S	probably damaging	Het
Gcnt4	A	G	13: 96,947,233	I346V	probably benign	Het
Gfra1	G	A	19: 58,453,355	T48I	probably damaging	Het
Kcnma1	A	G	14: 23,463,156	Y392H	probably damaging	Het
Lamb3	G	A	1: 193,339,522	V1011I	probably benign	Het
Ldb1	T	C	19: 46,036,155		probably benign	Het
Mcph1	A	G	8: 18,625,593	K11E	probably damaging	Het
Myc	A	G	15: 61,989,664	H374R	probably damaging	Het
Myom1	A	G	17: 71,084,349	Y853C	probably damaging	Het
Olfr1282	A	T	2: 111,335,802	I92N	probably damaging	Het
Pakap	C	T	4: 57,856,263	P572S	probably benign	Het
Pclo	A	G	5: 14,676,929		probably benign	Het
Pde3a	G	A	6: 141,405,172		probably benign	Het
Per1	T	C	11: 69,106,660	V887A	probably benign	Het
Prokr1	G	A	6: 87,588,368		probably benign	Het
Rb1cc1	A	G	1: 6,249,419	I1021V	probably benign	Het
Ryr1	T	C	7: 29,110,608	E344G	probably benign	Het
Sec24c	A	T	14: 20,689,642	D529V	probably damaging	Het
Slc1a6	T	C	10: 78,789,064	V101A	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tap2	G	A	17: 34,212,047	V374M	probably benign	Het
Tex15	T	A	8: 33,571,080	D179E	probably benign	Het
Tmem8b	T	C	4: 43,686,092	L241P	probably damaging	Het
Tmprss11g	T	C	5: 86,492,290	D160G	probably benign	Het
Trim30a	C	T	7: 104,435,913	C30Y	probably damaging	Het
Ttn	A	G	2: 76,771,496		probably benign	Het
Ush2a	A	G	1: 188,734,685	R2849G	probably damaging	Het
Usp5	A	G	6: 124,819,426	V570A	probably damaging	Het
Vipr1	T	C	9: 121,660,283		probably benign	Het
Zc2hc1c	A	C	12: 85,290,076	D169A	probably benign	Het

Other mutations in Klc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Klc2	APN	19	5111662	missense	probably benign	0.17
IGL00822:Klc2	APN	19	5111513	missense	probably damaging	1.00
IGL01732:Klc2	APN	19	5109797	missense	probably damaging	1.00
IGL02374:Klc2	APN	19	5110410	missense	possibly damaging	0.76
P0042:Klc2	UTSW	19	5113777	unclassified	probably benign
R0126:Klc2	UTSW	19	5112746	missense	possibly damaging	0.93
R1687:Klc2	UTSW	19	5111654	missense	probably damaging	1.00
R1887:Klc2	UTSW	19	5108612	missense	probably benign	0.00
R5620:Klc2	UTSW	19	5112856	missense	probably damaging	1.00
R6977:Klc2	UTSW	19	5109365	missense	probably damaging	1.00
R7622:Klc2	UTSW	19	5111632	missense	probably damaging	0.96
R7631:Klc2	UTSW	19	5108619	missense	probably benign	0.21
R8017:Klc2	UTSW	19	5111839	missense	probably benign
R8339:Klc2	UTSW	19	5109534	missense	probably benign	0.44
R8737:Klc2	UTSW	19	5118449	unclassified	probably benign
R8830:Klc2	UTSW	19	5110366	critical splice donor site	probably null
R8962:Klc2	UTSW	19	5111836	missense	probably benign	0.05
R9342:Klc2	UTSW	19	5108631	missense	probably benign	0.04
R9435:Klc2	UTSW	19	5109634	missense	possibly damaging	0.80
R9532:Klc2	UTSW	19	5111537	missense	possibly damaging	0.50

Posted On

2015-04-16