Mutagenetix > Incidental Mutation

Incidental Mutation 'R8995:Klc1'

684690

Institutional Source

Beutler Lab

Gene Symbol

Klc1

Ensembl Gene

ENSMUSG00000021288

Gene Name

kinesin light chain 1

Synonyms

Kns2

MMRRC Submission

068826-MU

Accession Numbers

Essential gene?

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

Stock #

R8995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111725283-111774278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111743344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 224 (A224T)

Ref Sequence

ENSEMBL: ENSMUSP00000082004 (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: A224T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288
AA Change: A224T

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: A224T

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

SMART Domains

Protein: ENSMUSP00000113171
Gene: ENSMUSG00000021288
AA Change: A224T

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

possibly damaging
Transcript: ENSMUST00000120544
AA Change: A224T

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113237
Gene: ENSMUSG00000021288
AA Change: A224T

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: A224T

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

SMART Domains

Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288
AA Change: A224T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	A	G	8: 122,257,764 (GRCm39)	*214R	probably null	Het
Acd	A	G	8: 106,427,131 (GRCm39)	L93P	probably damaging	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Aldh1b1	T	A	4: 45,803,413 (GRCm39)	M317K	possibly damaging	Het
Arfgap2	C	A	2: 91,103,929 (GRCm39)	Q342K	probably damaging	Het
Arhgef16	C	T	4: 154,371,495 (GRCm39)	E233K	probably damaging	Het
Asxl1	C	T	2: 153,235,886 (GRCm39)	R323C	probably damaging	Het
Bank1	G	T	3: 135,772,264 (GRCm39)	D656E	possibly damaging	Het
Bdh2	A	G	3: 135,000,989 (GRCm39)	M120V	probably damaging	Het
Bend7	A	G	2: 4,749,103 (GRCm39)	I73M	probably damaging	Het
Cd207	C	A	6: 83,652,891 (GRCm39)	D80Y	probably damaging	Het
Cdon	A	G	9: 35,398,093 (GRCm39)	T937A	probably damaging	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Csnk2a1-ps3	T	A	1: 156,352,873 (GRCm39)	V358E	probably benign	Het
Ddx50	A	G	10: 62,469,862 (GRCm39)	I375T	probably damaging	Het
Dhrs1	T	A	14: 55,977,396 (GRCm39)	T241S	probably benign	Het
Eef1b2	T	C	1: 63,217,629 (GRCm39)	Y79H	probably damaging	Het
Elmod2	A	G	8: 84,049,315 (GRCm39)	C84R	probably benign	Het
Exo1	A	G	1: 175,736,127 (GRCm39)	H837R	probably benign	Het
Fat3	T	C	9: 16,286,898 (GRCm39)	N875S	probably damaging	Het
Flvcr1	A	T	1: 190,743,817 (GRCm39)	L413Q	probably damaging	Het
Fras1	G	T	5: 96,860,415 (GRCm39)	V2154F	possibly damaging	Het
Golm2	A	C	2: 121,756,199 (GRCm39)	E409D	probably damaging	Het
Hectd4	G	A	5: 121,392,422 (GRCm39)	V229M	possibly damaging	Het
Ifitm6	A	T	7: 140,596,617 (GRCm39)	V52E	probably damaging	Het
Igkv4-58	A	G	6: 69,477,511 (GRCm39)	S29P	probably damaging	Het
Knl1	T	C	2: 118,902,990 (GRCm39)	S1564P	probably benign	Het
Krt25	T	C	11: 99,207,382 (GRCm39)	D399G	probably benign	Het
Lamc1	T	C	1: 153,207,993 (GRCm39)	Q98R	probably benign	Het
Lpar1	T	A	4: 58,486,954 (GRCm39)	M106L	probably damaging	Het
Mpc1	A	G	17: 8,502,784 (GRCm39)	Y21C	probably benign	Het
Msr1	T	A	8: 40,042,460 (GRCm39)	I372F	possibly damaging	Het
Ndc80	T	C	17: 71,815,598 (GRCm39)	N396D	probably benign	Het
Nphp4	G	A	4: 152,623,345 (GRCm39)	R673H	probably damaging	Het
Nsd3	T	C	8: 26,131,169 (GRCm39)	F178S	probably damaging	Het
Or1p1b	A	T	11: 74,130,620 (GRCm39)	T77S	probably benign	Het
Or8g54	T	C	9: 39,707,313 (GRCm39)	I214T	possibly damaging	Het
Pcdhgb7	T	A	18: 37,885,230 (GRCm39)	F133L	probably damaging	Het
Pikfyve	A	G	1: 65,244,746 (GRCm39)		probably null	Het
Pld5	A	T	1: 175,791,580 (GRCm39)	D475E	probably benign	Het
Potefam3f	A	T	8: 20,479,025 (GRCm39)	H11L		Het
Prop1	G	A	11: 50,841,887 (GRCm39)	P173L	possibly damaging	Het
Rabepk	G	A	2: 34,689,842 (GRCm39)		probably benign	Het
Reln	A	G	5: 22,184,577 (GRCm39)	I1646T	probably benign	Het
Rexo1	A	T	10: 80,386,095 (GRCm39)	L321Q	probably damaging	Het
Rfx3	T	A	19: 27,783,725 (GRCm39)	E382V	probably benign	Het
Rnf20	C	T	4: 49,648,437 (GRCm39)	T415I	possibly damaging	Het
Rpl10-ps3	T	A	9: 50,256,078 (GRCm39)	D55V	probably benign	Het
Sag	A	G	1: 87,733,052 (GRCm39)	T7A	probably benign	Het
Saysd1	G	A	14: 20,133,005 (GRCm39)	R51C	probably damaging	Het
Shprh	T	A	10: 11,040,574 (GRCm39)	Y682*	probably null	Het
Slc6a13	T	C	6: 121,302,012 (GRCm39)	I198T	probably damaging	Het
Slx9	G	A	10: 77,333,303 (GRCm39)	R121*	probably null	Het
Smyd5	C	A	6: 85,415,829 (GRCm39)	C101*	probably null	Het
Spata31d1d	A	G	13: 59,874,421 (GRCm39)	V1038A	probably benign	Het
Stat6	T	C	10: 127,494,511 (GRCm39)	S692P	probably benign	Het
Tbc1d9	A	T	8: 83,998,180 (GRCm39)	M1246L	probably benign	Het
Tmprss5	T	A	9: 49,025,894 (GRCm39)		probably null	Het
Trim12a	A	T	7: 103,953,532 (GRCm39)	M193K	probably benign	Het
Ube2t	T	A	1: 134,899,658 (GRCm39)	L102H	probably damaging	Het
Ubr1	G	A	2: 120,697,034 (GRCm39)	R1623W	probably damaging	Het
Ush2a	T	G	1: 188,176,850 (GRCm39)	M1338R	probably damaging	Het
Usp36	A	T	11: 118,175,825 (GRCm39)	L112Q	probably damaging	Het
Vmn1r53	A	G	6: 90,200,757 (GRCm39)	M189T	probably benign	Het
Vmn1r54	T	C	6: 90,246,668 (GRCm39)	V194A	probably benign	Het
Vmn2r33	A	G	7: 7,554,192 (GRCm39)	V787A	probably damaging	Het
Vps26a	A	G	10: 62,300,458 (GRCm39)	I236T	probably damaging	Het
Vwde	A	T	6: 13,195,996 (GRCm39)	L343Q	probably damaging	Het
Xdh	A	G	17: 74,205,369 (GRCm39)	V1032A	probably damaging	Het
Zan	A	G	5: 137,393,882 (GRCm39)	F4523S	unknown	Het
Zfand5	T	A	19: 21,254,387 (GRCm39)	V66E	probably benign	Het
Zfp658	T	A	7: 43,222,798 (GRCm39)	C358S	possibly damaging	Het
Zfp977	T	A	7: 42,232,072 (GRCm39)	R64W	probably damaging	Het
Zfp995	C	T	17: 22,099,172 (GRCm39)	S354N	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
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
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'- GAGACTATGGGCTAGCATATGC -3'
(R):5'- GGAAGGCTGGAAAGCTGTTTC -3'

Sequencing Primer
(F):5'- CTATGGGCTAGCATATGCACTGAC -3'
(R):5'- TAGAGGCTTATGAAACACTCTGCCTC -3'

Posted On

2021-10-11