Mutagenetix > Incidental Mutation

Incidental Mutation 'R6920:Klc1'

539597

Institutional Source

Beutler Lab

Gene Symbol

Klc1

Ensembl Gene

ENSMUSG00000021288

Gene Name

kinesin light chain 1

Synonyms

Kns2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

R6920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111758849-111807844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111787585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 105 (S105P)

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 damaging
Transcript: ENSMUST00000084941
AA Change: S493P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288
AA Change: S493P

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: S493P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113171
Gene: ENSMUSG00000021288
AA Change: S493P

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: S493P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113237
Gene: ENSMUSG00000021288
AA Change: S493P

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: S493P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288
AA Change: S493P

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 damaging
Transcript: ENSMUST00000134578
AA Change: S105P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120491
Gene: ENSMUSG00000021288
AA Change: S105P

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

Meta Mutation Damage Score

0.7674

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,068,050	Y1000F	probably damaging	Het
1700018B08Rik	A	G	8: 121,535,421		probably null	Het
Aadat	T	C	8: 60,529,433	F245L	probably damaging	Het
Adcy10	T	G	1: 165,575,658	L1575W	probably damaging	Het
Anks4b	A	T	7: 120,183,008	T421S	probably damaging	Het
Anpep	A	T	7: 79,825,349	I155N	probably damaging	Het
Arnt	T	C	3: 95,490,621	F572L	probably damaging	Het
Brip1	G	A	11: 86,148,536	Q391*	probably null	Het
Brpf3	C	A	17: 28,823,996	H1004N	probably benign	Het
Cand2	T	A	6: 115,791,289	V465D	possibly damaging	Het
Card10	G	T	15: 78,802,409	Y69*	probably null	Het
Catsperd	A	T	17: 56,655,175	K450*	probably null	Het
Ccdc137	T	C	11: 120,460,183	L137P	probably damaging	Het
Cic	T	C	7: 25,290,682	S1905P	probably damaging	Het
Csmd3	C	T	15: 47,644,205	G2971S	probably damaging	Het
Dmxl2	A	G	9: 54,472,212	Y183H	probably damaging	Het
Drosha	T	C	15: 12,834,310	Y167H	unknown	Het
E330034G19Rik	A	G	14: 24,308,242	K214R	unknown	Het
Fam180a	T	G	6: 35,313,830	I73L	possibly damaging	Het
Fbxo28	G	T	1: 182,341,421	H51N	probably benign	Het
Gm12728	T	G	4: 105,790,336		probably null	Het
Gm973	T	C	1: 59,552,461	C335R	possibly damaging	Het
Gpx8	A	G	13: 113,043,236	V177A	probably damaging	Het
Hdlbp	A	G	1: 93,412,361		probably null	Het
Htt	T	G	5: 34,877,100	Y1972D	probably null	Het
Igkv6-14	T	C	6: 70,435,132	Y56C	possibly damaging	Het
Kcnma1	A	G	14: 23,526,534		probably null	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lamc3	A	G	2: 31,908,689	D469G	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Mboat4	G	A	8: 34,124,711	R434H	probably benign	Het
Mttp	T	C	3: 138,115,282	K270E	possibly damaging	Het
Muc5ac	G	A	7: 141,793,298	C337Y	possibly damaging	Het
Nars	A	G	18: 64,501,400	V484A	probably damaging	Het
Noxa1	G	T	2: 25,091,832		probably null	Het
Olfr297	A	G	7: 86,527,314	T186A	probably benign	Het
Olfr830	T	A	9: 18,875,525	L63H	probably damaging	Het
Osbpl7	G	A	11: 97,050,758	G36S	probably damaging	Het
P4htm	C	T	9: 108,583,613	G220D	probably benign	Het
Pcdhga7	A	G	18: 37,715,146	I69V	probably benign	Het
Pla2g4e	C	T	2: 120,185,314	E250K	possibly damaging	Het
Plcd4	A	G	1: 74,565,835		probably benign	Het
Ppfia3	C	A	7: 45,358,807	G213V	possibly damaging	Het
Ppp1r1a	A	G	15: 103,533,086	S67P	probably damaging	Het
Prss43	T	C	9: 110,828,612	F193S	probably benign	Het
Rfx1	A	G	8: 84,095,488	Y872C	probably damaging	Het
Rhot1	T	A	11: 80,242,095	N218K	probably benign	Het
Sall1	A	G	8: 89,030,393	F1028L	probably damaging	Het
Siglec1	G	A	2: 131,078,077	Q845*	probably null	Het
Slc38a9	C	T	13: 112,701,526	T275I	possibly damaging	Het
Slc39a4	A	T	15: 76,613,270	S481T	probably damaging	Het
Ssr1	A	T	13: 37,986,022	N191K	probably damaging	Het
Tenm4	A	T	7: 96,895,550	S2258C	probably damaging	Het
Tm7sf3	T	G	6: 146,606,147	R472S	possibly damaging	Het
Tmprss11a	G	A	5: 86,428,635	T119M	probably benign	Het
Traip	C	T	9: 107,961,041	R142*	probably null	Het
Utrn	T	C	10: 12,750,470	N100D	probably damaging	Het
Vmn1r74	T	C	7: 11,847,648	S292P	probably benign	Het
Vmn2r71	A	T	7: 85,623,900	I641F	probably damaging	Het
Vmn2r9	T	A	5: 108,849,046	Y119F	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,248	N110S	probably damaging	Het
Vwce	A	G	19: 10,664,693	T928A	probably benign	Het
Zfp608	T	A	18: 54,988,265	K83N	probably damaging	Het
Zfp808	A	G	13: 62,173,168	H737R	probably benign	Het
Zswim4	T	C	8: 84,214,085	N795S	probably benign	Het

Other mutations in Klc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Klc1	APN	12	111776884	missense	probably damaging	1.00
IGL00940:Klc1	APN	12	111787498	missense	probably damaging	1.00
IGL02206:Klc1	APN	12	111778116	unclassified	probably benign
IGL02487:Klc1	APN	12	111772452	missense	probably damaging	0.99
IGL02490:Klc1	APN	12	111781776	missense	possibly damaging	0.89
IGL02830:Klc1	APN	12	111776907	missense	probably damaging	0.99
IGL03121:Klc1	APN	12	111781642	unclassified	probably benign
IGL03253:Klc1	APN	12	111781644	unclassified	probably benign
IGL03376:Klc1	APN	12	111775953	missense	probably damaging	0.97
dwarf	UTSW	12	111795603	missense	probably damaging	1.00
F5770:Klc1	UTSW	12	111774572	missense	probably benign	0.09
R0031:Klc1	UTSW	12	111777033	missense	probably damaging	0.99
R0239:Klc1	UTSW	12	111785324	splice site	probably benign
R1647:Klc1	UTSW	12	111776887	missense	probably damaging	1.00
R1648:Klc1	UTSW	12	111776887	missense	probably damaging	1.00
R1892:Klc1	UTSW	12	111781827	critical splice donor site	probably null
R2940:Klc1	UTSW	12	111806017	missense	possibly damaging	0.49
R4829:Klc1	UTSW	12	111795603	missense	probably damaging	1.00
R4849:Klc1	UTSW	12	111781695	missense	probably damaging	1.00
R5309:Klc1	UTSW	12	111795621	missense	possibly damaging	0.82
R5312:Klc1	UTSW	12	111795621	missense	possibly damaging	0.82
R5637:Klc1	UTSW	12	111774408	missense	probably damaging	1.00
R5706:Klc1	UTSW	12	111795627	missense	possibly damaging	0.65
R6623:Klc1	UTSW	12	111806041	missense	probably damaging	1.00
R7109:Klc1	UTSW	12	111776865	missense	probably benign	0.22
R7538:Klc1	UTSW	12	111785445	missense	probably benign	0.01
R8051:Klc1	UTSW	12	111781950	missense	possibly damaging	0.58
R8719:Klc1	UTSW	12	111806075	critical splice donor site	probably benign
R8995:Klc1	UTSW	12	111776910	missense	probably damaging	1.00
R9420:Klc1	UTSW	12	111772516	missense	probably damaging	0.99
V7580:Klc1	UTSW	12	111774572	missense	probably benign	0.09
V7581:Klc1	UTSW	12	111774572	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GCACAGTGCACACTCATCTG -3'
(R):5'- CAAGTACTGAAAGGCCGTCAC -3'

Sequencing Primer
(F):5'- GTGCACACTCATCTGAACCACTG -3'
(R):5'- ACGCTCGGCTCCTTCGAAC -3'

Posted On

2018-11-06