Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Klc3'

392086

Institutional Source

Beutler Lab

Gene Symbol

Klc3

Ensembl Gene

ENSMUSG00000040714

Gene Name

kinesin light chain 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL02802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19128362-19138029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19129049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 440 (I440N)

Ref Sequence

ENSEMBL: ENSMUSP00000104097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047170] [ENSMUST00000062831] [ENSMUST00000108457] [ENSMUST00000108458] [ENSMUST00000108459] [ENSMUST00000108460] [ENSMUST00000108461]

AlphaFold

Q91W40

Predicted Effect

probably benign
Transcript: ENSMUST00000047170
AA Change: I440N

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038091
Gene: ENSMUSG00000040714
AA Change: I440N

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.1e-56	PFAM
Pfam:TPR_10	206	247	1.7e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062831

SMART Domains

Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
DEXDc	8	280	1.62e-144	SMART
Blast:DEXDc2	340	369	3e-10	BLAST
Blast:DEXDc	412	467	9e-27	BLAST
HELICc	542	686	1.32e-76	SMART
low complexity region	733	751	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108457
AA Change: I440N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104097
Gene: ENSMUSG00000040714
AA Change: I440N

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.7e-57	PFAM
Pfam:TPR_10	206	247	3.2e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108458
AA Change: I440N

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104098
Gene: ENSMUSG00000040714
AA Change: I440N

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.1e-56	PFAM
Pfam:TPR_10	206	247	1.7e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108459
AA Change: I440N

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104099
Gene: ENSMUSG00000040714
AA Change: I440N

Domain	Start	End	E-Value	Type
coiled coil region	88	150	N/A	INTRINSIC
low complexity region	157	173	N/A	INTRINSIC
low complexity region	181	202	N/A	INTRINSIC
Pfam:TPR_10	206	247	5.6e-7	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108460

SMART Domains

Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
DEXDc	8	259	1.7e-120	SMART
Blast:DEXDc2	319	348	3e-10	BLAST
Blast:DEXDc	391	446	8e-27	BLAST
HELICc	521	665	1.32e-76	SMART
low complexity region	712	730	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108461

SMART Domains

Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
Pfam:DUF1227	16	161	4.5e-60	PFAM
Blast:HELICc2	193	262	1e-40	BLAST
HELICc	290	434	1.32e-76	SMART
low complexity region	481	499	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145039

Predicted Effect

probably benign
Transcript: ENSMUST00000129249

SMART Domains

Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
DEXDc	10	204	1.14e-71	SMART
Blast:DEXDc2	264	293	2e-10	BLAST
Blast:DEXDc	336	391	5e-27	BLAST
HELICc	466	610	1.32e-76	SMART
low complexity region	657	675	N/A	INTRINSIC

Meta Mutation Damage Score

0.1771

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het

Other mutations in Klc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Klc3	APN	7	19,130,220 (GRCm39)	missense	possibly damaging	0.78
IGL02215:Klc3	APN	7	19,129,750 (GRCm39)	missense	probably damaging	1.00
IGL02530:Klc3	APN	7	19,130,969 (GRCm39)	missense	probably benign	0.11
IGL03062:Klc3	APN	7	19,128,987 (GRCm39)	missense	probably damaging	1.00
R0164:Klc3	UTSW	7	19,128,851 (GRCm39)	missense	possibly damaging	0.68
R0164:Klc3	UTSW	7	19,128,851 (GRCm39)	missense	possibly damaging	0.68
R1864:Klc3	UTSW	7	19,131,966 (GRCm39)	missense	probably damaging	0.98
R4702:Klc3	UTSW	7	19,129,756 (GRCm39)	missense	probably damaging	1.00
R5301:Klc3	UTSW	7	19,130,274 (GRCm39)	missense	probably damaging	1.00
R5436:Klc3	UTSW	7	19,131,884 (GRCm39)	splice site	probably null
R5497:Klc3	UTSW	7	19,128,595 (GRCm39)	missense	probably benign
R5523:Klc3	UTSW	7	19,130,932 (GRCm39)	missense	probably damaging	1.00
R5672:Klc3	UTSW	7	19,130,256 (GRCm39)	missense	probably damaging	1.00
R5822:Klc3	UTSW	7	19,129,724 (GRCm39)	critical splice donor site	probably null
R6576:Klc3	UTSW	7	19,131,905 (GRCm39)	missense	possibly damaging	0.75
R7345:Klc3	UTSW	7	19,128,814 (GRCm39)	missense	probably benign	0.00
R8708:Klc3	UTSW	7	19,129,784 (GRCm39)	missense	probably damaging	1.00
R9762:Klc3	UTSW	7	19,132,023 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTGACATGGCTCTCTTCATC -3'
(R):5'- ATGGTGGCATTCCTCACACC -3'

Sequencing Primer
(F):5'- TCCTGAAGAGGAGCCCAAAAAGAC -3'
(R):5'- ACACCTGCCTCCATGTCC -3'

Posted On

2016-06-09