Mutagenetix > Incidental Mutation

Incidental Mutation 'R1648:Klc1'

174048

Institutional Source

Beutler Lab

Gene Symbol

Klc1

Ensembl Gene

ENSMUSG00000021288

Gene Name

kinesin light chain 1

Synonyms

Kns2

MMRRC Submission

039684-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R1648 (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: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

95% (73/77)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,775,181 (GRCm39)	N1457D	probably benign	Het
Adgb	A	G	10: 10,271,115 (GRCm39)	F817L	probably damaging	Het
Akap6	A	T	12: 53,188,789 (GRCm39)	K2068*	probably null	Het
Alms1	T	C	6: 85,655,384 (GRCm39)	L3310P	probably damaging	Het
Ankrd27	T	A	7: 35,303,278 (GRCm39)	D219E	probably benign	Het
Atp10a	T	C	7: 58,434,575 (GRCm39)	V283A	probably damaging	Het
Atp11a	C	T	8: 12,897,495 (GRCm39)	S270L	probably damaging	Het
Casp3	T	C	8: 47,091,109 (GRCm39)	S254P	probably benign	Het
Cep104	G	A	4: 154,063,553 (GRCm39)		probably null	Het
Cep170b	C	T	12: 112,702,806 (GRCm39)	T423I	probably damaging	Het
Cfap58	A	G	19: 47,943,844 (GRCm39)	E348G	probably benign	Het
Chd6	A	G	2: 160,883,978 (GRCm39)	L89S	probably damaging	Het
Cyp2a22	T	C	7: 26,631,793 (GRCm39)	S488G	probably damaging	Het
D130040H23Rik	C	A	8: 69,755,633 (GRCm39)	H363Q	probably benign	Het
Dcaf7	T	A	11: 105,942,628 (GRCm39)	F192I	probably damaging	Het
Ddx20	T	C	3: 105,586,504 (GRCm39)	I614V	probably benign	Het
Ehbp1	G	A	11: 22,046,000 (GRCm39)	T558I	probably damaging	Het
Eif2ak3	T	A	6: 70,860,615 (GRCm39)	V397D	possibly damaging	Het
Eif2b5	T	C	16: 20,321,335 (GRCm39)	V296A	possibly damaging	Het
Esr1	A	G	10: 4,951,260 (GRCm39)	E546G	possibly damaging	Het
Fras1	T	A	5: 96,874,472 (GRCm39)		probably null	Het
G930045G22Rik	T	C	6: 50,823,698 (GRCm39)		noncoding transcript	Het
Gemin5	A	T	11: 58,038,805 (GRCm39)	L568*	probably null	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
Kif17	A	G	4: 137,997,206 (GRCm39)	Y43C	probably damaging	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
Krt7	A	C	15: 101,310,448 (GRCm39)	S32R	probably damaging	Het
Lama3	A	G	18: 12,665,256 (GRCm39)	D2330G	possibly damaging	Het
Limch1	T	A	5: 67,156,599 (GRCm39)	S511R	probably damaging	Het
Luzp2	T	A	7: 54,914,018 (GRCm39)		probably null	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Mroh9	T	G	1: 162,873,625 (GRCm39)	E510A	probably damaging	Het
Myo1h	G	T	5: 114,474,336 (GRCm39)	L458F	probably damaging	Het
Neto1	A	T	18: 86,518,179 (GRCm39)	Y528F	probably damaging	Het
Nlrp9b	T	A	7: 19,760,469 (GRCm39)	C187S	possibly damaging	Het
Nup160	T	C	2: 90,540,432 (GRCm39)	Y854H	probably damaging	Het
Odc1	T	C	12: 17,598,538 (GRCm39)		probably benign	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
Plcb2	A	T	2: 118,554,261 (GRCm39)	M64K	possibly damaging	Het
Plcxd3	A	T	15: 4,405,291 (GRCm39)	I33F	probably benign	Het
Postn	A	G	3: 54,283,522 (GRCm39)	T534A	probably damaging	Het
Prkd2	T	A	7: 16,591,732 (GRCm39)	F588I	possibly damaging	Het
Prrg4	C	A	2: 104,663,088 (GRCm39)	A173S	probably benign	Het
Rinl	C	T	7: 28,497,057 (GRCm39)	A519V	probably damaging	Het
Rpgrip1l	A	C	8: 91,979,517 (GRCm39)	V975G	probably damaging	Het
Rps6ka4	C	A	19: 6,816,730 (GRCm39)	V118L	probably benign	Het
Rtkn	T	C	6: 83,112,975 (GRCm39)	S16P	probably damaging	Het
Sbspon	C	A	1: 15,953,983 (GRCm39)	R99L	probably damaging	Het
Sdf4	G	A	4: 156,083,886 (GRCm39)	A119T	probably damaging	Het
Sgpp1	T	A	12: 75,762,990 (GRCm39)	H397L	possibly damaging	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
Smcp	A	T	3: 92,491,788 (GRCm39)	C20S	unknown	Het
Tdrd6	A	C	17: 43,938,000 (GRCm39)	V1016G	possibly damaging	Het
Tmem132c	T	A	5: 127,540,120 (GRCm39)		probably benign	Het
Tmem170b	A	T	13: 41,759,738 (GRCm39)	Q16L	probably null	Het
Tmem30a	A	G	9: 79,700,311 (GRCm39)	F61S	probably damaging	Het
Tnfsf13b	T	C	8: 10,081,534 (GRCm39)	M232T	probably damaging	Het
Trip11	T	A	12: 101,850,651 (GRCm39)	K853*	probably null	Het
Tusc3	C	A	8: 39,513,721 (GRCm39)	S64*	probably null	Het
Vmn2r111	A	T	17: 22,788,042 (GRCm39)	D436E	probably benign	Het
Zfp607a	T	C	7: 27,578,493 (GRCm39)	V521A	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
R1647: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