Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Klc1'

59252

Institutional Source

Beutler Lab

Gene Symbol

Klc1

Ensembl Gene

ENSMUSG00000021288

Gene Name

kinesin light chain 1

Synonyms

Kns2

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

R0239 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

111725283-111774278 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 111751758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120491 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000124197

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: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Greb1l	C	T	18: 10,458,567 (GRCm39)		probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Micu2	G	A	14: 58,154,835 (GRCm39)		probably benign	Het
Mrrf	T	C	2: 36,067,293 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nomo1	T	C	7: 45,729,018 (GRCm39)		probably null	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Raet1c	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Scgb1b2	T	A	7: 30,991,155 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35c2	C	T	2: 165,122,757 (GRCm39)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc49a3	G	T	5: 108,591,882 (GRCm39)		probably benign	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	probably damaging	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
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
R1892:Klc1	UTSW	12	111,748,261 (GRCm39)	critical splice donor site	probably null
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'- AGTGCCGCCATCATTGACTGGG -3'
(R):5'- CAGGCTTTATACCAGCCGCCATAC -3'

Sequencing Primer
(F):5'- cgagacagggtttctctgtg -3'
(R):5'- GCCGCCATACTCTCCAAAAG -3'

Posted On

2013-07-11