Mutagenetix > Incidental Mutation

Incidental Mutation 'R1647:Klc1'

173974

Institutional Source

Beutler Lab

Gene Symbol

Klc1

Ensembl Gene

ENSMUSG00000021288

Gene Name

kinesin light chain 1

Synonyms

Kns2

MMRRC Submission

039683-MU

Accession Numbers

Essential gene?

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

Stock #

R1647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111725283-111774278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111743321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 216 (L216P)

Ref Sequence

ENSEMBL: ENSMUSP00000113997 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084941
AA Change: L216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288
AA Change: L216P

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 damaging
Transcript: ENSMUST00000118471
AA Change: L216P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113171
Gene: ENSMUSG00000021288
AA Change: L216P

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 damaging
Transcript: ENSMUST00000120544
AA Change: L216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113237
Gene: ENSMUSG00000021288
AA Change: L216P

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 damaging
Transcript: ENSMUST00000122300
AA Change: L216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288
AA Change: L216P

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

Meta Mutation Damage Score

0.9693

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

97% (70/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,768 (GRCm39)	S184P	probably damaging	Het
Adgb	A	G	10: 10,271,115 (GRCm39)	F817L	probably damaging	Het
Anxa10	T	C	8: 62,545,618 (GRCm39)	D38G	probably damaging	Het
Atp8b2	G	A	3: 89,849,091 (GRCm39)	A1081V	probably benign	Het
Baz1a	G	A	12: 55,021,983 (GRCm39)	R100C	probably damaging	Het
Ceacam18	A	C	7: 43,288,689 (GRCm39)	T147P	possibly damaging	Het
Cep170b	C	T	12: 112,702,806 (GRCm39)	T423I	probably damaging	Het
Chd6	A	G	2: 160,883,978 (GRCm39)	L89S	probably damaging	Het
Chrm3	A	T	13: 9,928,461 (GRCm39)	W192R	probably damaging	Het
Cnn1	C	A	9: 22,019,150 (GRCm39)	A202E	probably damaging	Het
Dcaf7	T	A	11: 105,942,628 (GRCm39)	F192I	probably damaging	Het
Eif2b5	T	C	16: 20,321,335 (GRCm39)	V296A	possibly damaging	Het
Entpd7	A	G	19: 43,710,184 (GRCm39)		probably benign	Het
Esr1	A	G	10: 4,951,260 (GRCm39)	E546G	possibly damaging	Het
Etaa1	C	A	11: 17,896,492 (GRCm39)	G542C	probably damaging	Het
Exosc8	A	T	3: 54,641,522 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,874,472 (GRCm39)		probably null	Het
G930045G22Rik	T	C	6: 50,823,698 (GRCm39)		noncoding transcript	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,194,508 (GRCm39)		probably null	Het
Has1	A	G	17: 18,070,247 (GRCm39)	Y225H	probably damaging	Het
Hk3	A	G	13: 55,162,274 (GRCm39)	F110S	probably damaging	Het
Iars1	A	G	13: 49,876,478 (GRCm39)	K848E	possibly damaging	Het
Il22ra1	C	A	4: 135,477,771 (GRCm39)	H281N	probably damaging	Het
Inpp4b	G	T	8: 82,583,403 (GRCm39)		probably benign	Het
Itga11	A	G	9: 62,667,652 (GRCm39)	N662D	probably benign	Het
Kif20b	A	T	19: 34,914,190 (GRCm39)	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,878,570 (GRCm39)	T237A	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama3	A	G	18: 12,665,256 (GRCm39)	D2330G	possibly damaging	Het
Lamb2	G	A	9: 108,358,622 (GRCm39)		probably null	Het
Limch1	T	A	5: 67,156,599 (GRCm39)	S511R	probably damaging	Het
Lnx2	C	A	5: 146,964,152 (GRCm39)	V468L	probably benign	Het
Lrriq1	A	T	10: 103,006,509 (GRCm39)	C1205*	probably null	Het
Lsm4	A	G	8: 71,130,456 (GRCm39)	Y25C	probably damaging	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Miip	T	C	4: 147,949,691 (GRCm39)	S174G	probably benign	Het
Mroh9	T	G	1: 162,873,625 (GRCm39)	E510A	probably damaging	Het
Msh2	C	T	17: 87,980,064 (GRCm39)	A14V	probably benign	Het
Nbea	T	A	3: 55,537,650 (GRCm39)	I2828F	probably damaging	Het
Nkx2-3	A	T	19: 43,602,895 (GRCm39)	Q167L	probably damaging	Het
Nup160	T	C	2: 90,540,432 (GRCm39)	Y854H	probably damaging	Het
Or10a3n	A	G	7: 108,492,972 (GRCm39)	I214T	probably damaging	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or5an10	T	A	19: 12,276,023 (GRCm39)	I158L	probably benign	Het
Pate9	A	G	9: 36,445,736 (GRCm39)	S72P	possibly damaging	Het
Phldb1	G	A	9: 44,626,730 (GRCm39)	P572S	probably damaging	Het
Plcb2	A	T	2: 118,554,261 (GRCm39)	M64K	possibly damaging	Het
Prr12	T	A	7: 44,683,616 (GRCm39)	N1683Y	probably benign	Het
Prrg4	C	A	2: 104,663,088 (GRCm39)	A173S	probably benign	Het
Pygl	T	A	12: 70,243,784 (GRCm39)	I553F	possibly damaging	Het
Rasd1	T	C	11: 59,854,920 (GRCm39)	M187V	probably benign	Het
Rasgrf1	A	G	9: 89,835,973 (GRCm39)	I234V	probably benign	Het
Rps6ka4	C	A	19: 6,816,730 (GRCm39)	V118L	probably benign	Het
Sbspon	C	A	1: 15,953,983 (GRCm39)	R99L	probably damaging	Het
Sdhaf3	T	C	6: 6,956,126 (GRCm39)	Y34H	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc2	T	A	10: 79,461,945 (GRCm39)	M367L	probably benign	Het
Slc26a5	T	A	5: 22,018,974 (GRCm39)	K590*	probably null	Het
Slc39a12	T	C	2: 14,456,803 (GRCm39)	V597A	probably benign	Het
Slc45a3	G	A	1: 131,905,262 (GRCm39)	G81D	probably damaging	Het
Spata2l	T	C	8: 123,960,041 (GRCm39)	N416S	probably benign	Het
Tdrd6	A	C	17: 43,938,000 (GRCm39)	V1016G	possibly damaging	Het
Tet2	A	G	3: 133,191,641 (GRCm39)	V931A	probably benign	Het
Tmem190	A	G	7: 4,787,120 (GRCm39)	D108G	probably damaging	Het
Trip11	T	A	12: 101,850,651 (GRCm39)	K853*	probably null	Het
Vmn2r111	A	T	17: 22,788,042 (GRCm39)	D436E	probably benign	Het
Zfp704	A	T	3: 9,536,099 (GRCm39)	S140R	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
R0239:Klc1	UTSW	12	111,751,758 (GRCm39)	splice site	probably benign
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'- AGTCAGAGGACCTACCCTTTCTGC -3'
(R):5'- GTACACCAGGGCCAAGATGTTGAG -3'

Sequencing Primer
(F):5'- AGTCCGCAGCACACTGTTC -3'
(R):5'- TTGAGCATGGTAGCCACATC -3'

Posted On

2014-04-24