Mutagenetix > Incidental Mutation

Incidental Mutation 'R1892:Klc1'

211639

Institutional Source

Beutler Lab

Gene Symbol

Klc1

Ensembl Gene

ENSMUSG00000021288

Gene Name

kinesin light chain 1

Synonyms

Kns2

MMRRC Submission

039912-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R1892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111725283-111774278 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 111748261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084941] [ENSMUST00000118471] [ENSMUST00000120544] [ENSMUST00000122300] [ENSMUST00000134578]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000084941

SMART Domains

Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288

Domain	Start	End	E-Value	Type
coiled coil region	86	156	N/A	INTRINSIC
low complexity region	158	179	N/A	INTRINSIC
low complexity region	188	206	N/A	INTRINSIC
Pfam:TPR_10	212	253	3.1e-9	PFAM
TPR	255	288	3.81e-1	SMART
TPR	297	330	1.16e-5	SMART
TPR	339	372	4.77e-2	SMART
TPR	381	414	2.78e-3	SMART
TPR	464	497	4.93e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118471

SMART Domains

Protein: ENSMUSP00000113171
Gene: ENSMUSG00000021288

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	80	254	8.3e-69	PFAM
Pfam:TPR_10	212	253	7.2e-9	PFAM
TPR	255	288	3.81e-1	SMART
TPR	297	330	1.16e-5	SMART
TPR	339	372	4.77e-2	SMART
TPR	381	414	2.78e-3	SMART
TPR	464	497	4.93e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120544

SMART Domains

Protein: ENSMUSP00000113237
Gene: ENSMUSG00000021288

Domain	Start	End	E-Value	Type
coiled coil region	86	156	N/A	INTRINSIC
low complexity region	158	179	N/A	INTRINSIC
low complexity region	188	206	N/A	INTRINSIC
Pfam:TPR_10	212	253	3.2e-9	PFAM
TPR	255	288	3.81e-1	SMART
TPR	297	330	1.16e-5	SMART
TPR	339	372	4.77e-2	SMART
TPR	381	414	2.78e-3	SMART
TPR	464	497	4.93e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000122300

SMART Domains

Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	80	254	1e-68	PFAM
Pfam:TPR_10	212	253	8.4e-9	PFAM
TPR	255	288	3.81e-1	SMART
TPR	297	330	1.16e-5	SMART
TPR	339	372	4.77e-2	SMART
TPR	381	414	2.78e-3	SMART
TPR	464	497	2.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134578

SMART Domains

Protein: ENSMUSP00000120491
Gene: ENSMUSG00000021288

Domain	Start	End	E-Value	Type
Pfam:TPR_1	1	25	1.9e-4	PFAM
Pfam:TPR_7	1	36	1.9e-4	PFAM
Pfam:TPR_10	75	112	7.8e-9	PFAM
Pfam:TPR_1	77	98	1.4e-4	PFAM
Pfam:TPR_7	78	129	1.7e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140792

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are significantly smaller than normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,815,561 (GRCm39)	A270T	probably benign	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Adat3	T	C	10: 80,442,249 (GRCm39)	L29P	probably damaging	Het
AI987944	A	T	7: 41,024,020 (GRCm39)	C320S	probably damaging	Het
Asic4	C	T	1: 75,446,126 (GRCm39)	R285W	probably damaging	Het
Asic5	A	T	3: 81,928,293 (GRCm39)	I419L	probably damaging	Het
Batf	A	G	12: 85,736,102 (GRCm39)	K42E	probably damaging	Het
Bcar3	A	G	3: 122,301,785 (GRCm39)	N160S	probably benign	Het
Bco2	C	A	9: 50,461,863 (GRCm39)	G47V	probably damaging	Het
Bicc1	T	G	10: 70,794,614 (GRCm39)	K181T	probably damaging	Het
Brinp2	A	G	1: 158,082,542 (GRCm39)		probably null	Het
Cacng8	A	G	7: 3,463,568 (GRCm39)	D240G	possibly damaging	Het
Calca	A	G	7: 114,232,962 (GRCm39)	Y96H	probably damaging	Het
Cdh1	A	T	8: 107,390,882 (GRCm39)	K666I	possibly damaging	Het
Cdh16	A	T	8: 105,344,631 (GRCm39)	I500N	possibly damaging	Het
Chst14	A	G	2: 118,757,830 (GRCm39)	Y208C	probably damaging	Het
Chst9	T	C	18: 15,586,017 (GRCm39)	H182R	probably damaging	Het
Clk2	A	G	3: 89,082,502 (GRCm39)	I367M	possibly damaging	Het
Cobl	G	C	11: 12,203,258 (GRCm39)	S1066W	probably damaging	Het
Ctcfl	A	G	2: 172,960,478 (GRCm39)	V35A	probably benign	Het
Dchs1	G	T	7: 105,413,363 (GRCm39)	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,374,083 (GRCm39)	T529A	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,612,738 (GRCm39)	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,716,420 (GRCm39)	E51G	probably benign	Het
Esd	C	T	14: 74,987,113 (GRCm39)	A266V	probably damaging	Het
Gli1	T	C	10: 127,165,975 (GRCm39)	M1093V	possibly damaging	Het
Gm15446	A	G	5: 110,091,253 (GRCm39)	K502E	probably damaging	Het
Gm4076	T	A	13: 85,275,447 (GRCm39)		noncoding transcript	Het
Gm9830	A	G	9: 44,375,825 (GRCm39)		noncoding transcript	Het
Gm9938	G	A	19: 23,701,955 (GRCm39)		probably benign	Het
Grhl1	G	A	12: 24,634,909 (GRCm39)	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,426,191 (GRCm39)	D553E	probably benign	Het
Hpn	G	A	7: 30,798,468 (GRCm39)	Q415*	probably null	Het
Hsd11b1	T	G	1: 192,906,068 (GRCm39)	M175L	probably benign	Het
Htra1	G	A	7: 130,586,799 (GRCm39)	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,366,694 (GRCm39)	H76R	probably damaging	Het
Insrr	G	A	3: 87,721,184 (GRCm39)	V1112M	probably damaging	Het
Ints9	T	C	14: 65,257,872 (GRCm39)	S351P	probably benign	Het
Itgav	T	A	2: 83,601,680 (GRCm39)	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,375,613 (GRCm39)	V82L	probably benign	Het
Kmt5c	T	A	7: 4,745,714 (GRCm39)	C69*	probably null	Het
Lgals3	T	G	14: 47,622,164 (GRCm39)	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,354,748 (GRCm39)	D1008V	probably damaging	Het
Mpg	C	T	11: 32,181,720 (GRCm39)	Q243*	probably null	Het
Muc15	C	T	2: 110,567,697 (GRCm39)	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,597,745 (GRCm39)	M278T	probably benign	Het
Npas2	A	G	1: 39,384,503 (GRCm39)	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,787 (GRCm39)	D519G	probably null	Het
Nup43	A	G	10: 7,549,373 (GRCm39)	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or10j3	T	C	1: 173,031,795 (GRCm39)	Y291H	probably damaging	Het
Or5p72	A	T	7: 108,022,147 (GRCm39)	Y123F	possibly damaging	Het
Or6c75	A	C	10: 129,336,902 (GRCm39)	I50L	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,283,304 (GRCm39)	A135S	probably damaging	Het
Pira13	A	C	7: 3,827,573 (GRCm39)	C195G	probably benign	Het
Ppp4c	A	G	7: 126,385,452 (GRCm39)	V119A	probably damaging	Het
Prepl	A	G	17: 85,395,878 (GRCm39)	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,649,545 (GRCm39)	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Ranbp2	T	C	10: 58,299,921 (GRCm39)	V491A	probably benign	Het
Ranbp9	C	A	13: 43,569,933 (GRCm39)	C495F	possibly damaging	Het
Rfx8	A	T	1: 39,709,746 (GRCm39)		probably null	Het
Rnf111	T	A	9: 70,383,656 (GRCm39)	K92N	probably damaging	Het
Rtn1	A	G	12: 72,259,337 (GRCm39)	I772T	probably damaging	Het
Ryr2	T	A	13: 11,673,844 (GRCm39)	K72*	probably null	Het
Sergef	A	T	7: 46,264,040 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,620,665 (GRCm39)	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,950,302 (GRCm39)	C383*	probably null	Het
Stab2	C	T	10: 86,773,913 (GRCm39)	C806Y	probably damaging	Het
Stard9	A	G	2: 120,524,189 (GRCm39)	T795A	probably benign	Het
Stk31	T	C	6: 49,415,408 (GRCm39)	I536T	probably damaging	Het
Stox1	T	A	10: 62,501,178 (GRCm39)	T461S	possibly damaging	Het
Suv39h2	T	C	2: 3,460,805 (GRCm39)	Y219C	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Tbc1d2b	T	A	9: 90,100,996 (GRCm39)	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,935,696 (GRCm39)	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,174,633 (GRCm39)	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,605,188 (GRCm39)	N108D	probably benign	Het
Tox3	A	T	8: 90,996,869 (GRCm39)	N131K	probably benign	Het
Tspear	T	A	10: 77,706,308 (GRCm39)	D359E	probably benign	Het
Ttc9	A	G	12: 81,678,551 (GRCm39)	I125V	probably benign	Het
Ttn	A	T	2: 76,728,531 (GRCm39)		probably benign	Het
Ubn2	C	T	6: 38,468,226 (GRCm39)	S980F	probably damaging	Het
Vcf1	G	T	11: 113,554,212 (GRCm39)	P161H	probably damaging	Het
Zfp362	T	A	4: 128,684,057 (GRCm39)	T30S	probably benign	Het
Zfp385c	A	C	11: 100,528,630 (GRCm39)	H32Q	probably damaging	Het
Zfp870	A	T	17: 33,102,863 (GRCm39)	H156Q	possibly damaging	Het
Zfp873	T	C	10: 81,897,080 (GRCm39)	C641R	probably damaging	Het
Zfp950	A	T	19: 61,107,549 (GRCm39)	H511Q	probably benign	Het

Other mutations in Klc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Klc1	APN	12	111,743,318 (GRCm39)	missense	probably damaging	1.00
IGL00940:Klc1	APN	12	111,753,932 (GRCm39)	missense	probably damaging	1.00
IGL02206:Klc1	APN	12	111,744,550 (GRCm39)	unclassified	probably benign
IGL02487:Klc1	APN	12	111,738,886 (GRCm39)	missense	probably damaging	0.99
IGL02490:Klc1	APN	12	111,748,210 (GRCm39)	missense	possibly damaging	0.89
IGL02830:Klc1	APN	12	111,743,341 (GRCm39)	missense	probably damaging	0.99
IGL03121:Klc1	APN	12	111,748,076 (GRCm39)	unclassified	probably benign
IGL03253:Klc1	APN	12	111,748,078 (GRCm39)	unclassified	probably benign
IGL03376:Klc1	APN	12	111,742,387 (GRCm39)	missense	probably damaging	0.97
dwarf	UTSW	12	111,762,037 (GRCm39)	missense	probably damaging	1.00
F5770:Klc1	UTSW	12	111,741,006 (GRCm39)	missense	probably benign	0.09
R0031:Klc1	UTSW	12	111,743,467 (GRCm39)	missense	probably damaging	0.99
R0239:Klc1	UTSW	12	111,751,758 (GRCm39)	splice site	probably benign
R1647:Klc1	UTSW	12	111,743,321 (GRCm39)	missense	probably damaging	1.00
R1648:Klc1	UTSW	12	111,743,321 (GRCm39)	missense	probably damaging	1.00
R2940:Klc1	UTSW	12	111,772,451 (GRCm39)	missense	possibly damaging	0.49
R4829:Klc1	UTSW	12	111,762,037 (GRCm39)	missense	probably damaging	1.00
R4849:Klc1	UTSW	12	111,748,129 (GRCm39)	missense	probably damaging	1.00
R5309:Klc1	UTSW	12	111,762,055 (GRCm39)	missense	possibly damaging	0.82
R5312:Klc1	UTSW	12	111,762,055 (GRCm39)	missense	possibly damaging	0.82
R5637:Klc1	UTSW	12	111,740,842 (GRCm39)	missense	probably damaging	1.00
R5706:Klc1	UTSW	12	111,762,061 (GRCm39)	missense	possibly damaging	0.65
R6623:Klc1	UTSW	12	111,772,475 (GRCm39)	missense	probably damaging	1.00
R6920:Klc1	UTSW	12	111,754,019 (GRCm39)	missense	probably damaging	1.00
R7109:Klc1	UTSW	12	111,743,299 (GRCm39)	missense	probably benign	0.22
R7538:Klc1	UTSW	12	111,751,879 (GRCm39)	missense	probably benign	0.01
R8051:Klc1	UTSW	12	111,748,384 (GRCm39)	missense	possibly damaging	0.58
R8719:Klc1	UTSW	12	111,772,509 (GRCm39)	critical splice donor site	probably benign
R8995:Klc1	UTSW	12	111,743,344 (GRCm39)	missense	probably damaging	1.00
R9420:Klc1	UTSW	12	111,738,950 (GRCm39)	missense	probably damaging	0.99
V7580:Klc1	UTSW	12	111,741,006 (GRCm39)	missense	probably benign	0.09
V7581:Klc1	UTSW	12	111,741,006 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GGTTCTGGGAAAGGATCATCC -3'
(R):5'- AGTGCTTCTTACCGTCCACAG -3'

Sequencing Primer
(F):5'- GGATCATCCTGATGTTGCCAAACAG -3'
(R):5'- CGGGTGAGAATCTCCTTGTACAGC -3'

Posted On

2014-06-30