Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Klc3'

570144

Institutional Source

Beutler Lab

Gene Symbol

Klc3

Ensembl Gene

ENSMUSG00000040714

Gene Name

kinesin light chain 3

Synonyms

MMRRC Submission

045379-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19128362-19138029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19128814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 481 (T481M)

Ref Sequence

ENSEMBL: ENSMUSP00000038091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047170] [ENSMUST00000062831] [ENSMUST00000108457] [ENSMUST00000108458] [ENSMUST00000108459] [ENSMUST00000108460] [ENSMUST00000108461]

AlphaFold

Q91W40

Predicted Effect

probably benign
Transcript: ENSMUST00000047170
AA Change: T481M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038091
Gene: ENSMUSG00000040714
AA Change: T481M

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.1e-56	PFAM
Pfam:TPR_10	206	247	1.7e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062831

SMART Domains

Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
DEXDc	8	280	1.62e-144	SMART
Blast:DEXDc2	340	369	3e-10	BLAST
Blast:DEXDc	412	467	9e-27	BLAST
HELICc	542	686	1.32e-76	SMART
low complexity region	733	751	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108457
AA Change: T481M

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104097
Gene: ENSMUSG00000040714
AA Change: T481M

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.7e-57	PFAM
Pfam:TPR_10	206	247	3.2e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108458
AA Change: T481M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104098
Gene: ENSMUSG00000040714
AA Change: T481M

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.1e-56	PFAM
Pfam:TPR_10	206	247	1.7e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108459
AA Change: T481M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104099
Gene: ENSMUSG00000040714
AA Change: T481M

Domain	Start	End	E-Value	Type
coiled coil region	88	150	N/A	INTRINSIC
low complexity region	157	173	N/A	INTRINSIC
low complexity region	181	202	N/A	INTRINSIC
Pfam:TPR_10	206	247	5.6e-7	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108460

SMART Domains

Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
DEXDc	8	259	1.7e-120	SMART
Blast:DEXDc2	319	348	3e-10	BLAST
Blast:DEXDc	391	446	8e-27	BLAST
HELICc	521	665	1.32e-76	SMART
low complexity region	712	730	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108461

SMART Domains

Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
Pfam:DUF1227	16	161	4.5e-60	PFAM
Blast:HELICc2	193	262	1e-40	BLAST
HELICc	290	434	1.32e-76	SMART
low complexity region	481	499	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129249

SMART Domains

Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
DEXDc	10	204	1.14e-71	SMART
Blast:DEXDc2	264	293	2e-10	BLAST
Blast:DEXDc	336	391	5e-27	BLAST
HELICc	466	610	1.32e-76	SMART
low complexity region	657	675	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,773,774 (GRCm39)	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,357,304 (GRCm39)	R934Q	possibly damaging	Het
Atad5	T	C	11: 79,986,832 (GRCm39)	S640P	probably damaging	Het
B3galnt2	C	T	13: 14,155,065 (GRCm39)		probably null	Het
B430305J03Rik	T	C	3: 61,271,539 (GRCm39)	S69G	unknown	Het
Cd163	A	T	6: 124,295,897 (GRCm39)	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,817 (GRCm39)	S906P	probably damaging	Het
Cimip2b	T	C	4: 43,428,022 (GRCm39)	D145G	possibly damaging	Het
Cyp4f39	G	A	17: 32,705,753 (GRCm39)	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,059,129 (GRCm39)	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583 (GRCm39)	L139P	probably damaging	Het
Dcc	A	G	18: 71,511,895 (GRCm39)	V840A	probably benign	Het
Dnhd1	A	T	7: 105,353,174 (GRCm39)	I2776L	probably benign	Het
Fbxo24	G	T	5: 137,619,523 (GRCm39)	F234L	probably damaging	Het
Gm21190	T	C	5: 15,732,902 (GRCm39)		probably null	Het
Grhl3	C	T	4: 135,273,557 (GRCm39)	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,244,842 (GRCm39)	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,146,693 (GRCm39)	R133S	probably benign	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Map2k6	A	T	11: 110,383,734 (GRCm39)	I127F		Het
Mapk8	A	T	14: 33,130,068 (GRCm39)	N63K	probably damaging	Het
Med13l	T	C	5: 118,880,825 (GRCm39)	W1306R	probably damaging	Het
Megf6	C	A	4: 154,351,772 (GRCm39)	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,841,095 (GRCm39)	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,508,308 (GRCm39)	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503 (GRCm38)	F838L	probably benign	Het
Nrm	A	G	17: 36,175,476 (GRCm39)	H194R	probably damaging	Het
Nup188	T	C	2: 30,230,613 (GRCm39)	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,850,139 (GRCm39)	D618E	probably damaging	Het
Or5p78	C	T	7: 108,212,270 (GRCm39)	T252I	probably benign	Het
Or8g23	A	G	9: 38,971,875 (GRCm39)	L29P	probably damaging	Het
Or8g24	G	A	9: 38,989,630 (GRCm39)	S137F	probably damaging	Het
Or9s18	A	C	13: 65,300,557 (GRCm39)	N173T	possibly damaging	Het
P2ry1	T	C	3: 60,911,095 (GRCm39)	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,624,976 (GRCm39)	F769L	probably benign	Het
Poc5	A	G	13: 96,533,304 (GRCm39)	E144G	probably damaging	Het
Pole	T	A	5: 110,451,769 (GRCm39)	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,496,966 (GRCm39)	F1159L	possibly damaging	Het
Pramel32	T	C	4: 88,546,416 (GRCm39)	K309E	possibly damaging	Het
Rubcnl	A	G	14: 75,279,793 (GRCm39)	Y392C	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Serpinh1	A	C	7: 98,995,563 (GRCm39)	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,530,085 (GRCm39)		probably null	Het
Soat2	A	G	15: 102,071,013 (GRCm39)	D469G	probably benign	Het
Speg	T	C	1: 75,361,479 (GRCm39)	L70P	probably damaging	Het
Spred2	T	C	11: 19,874,958 (GRCm39)		probably null	Het
Stac2	A	C	11: 97,933,439 (GRCm39)	S168A	probably damaging	Het
Stx1a	T	A	5: 135,066,042 (GRCm39)	D31E	probably benign	Het
Timeless	C	T	10: 128,085,623 (GRCm39)	T885M	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,698,614 (GRCm39)	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966 (GRCm39)	V1598A	unknown	Het
Zfat	A	T	15: 67,976,892 (GRCm39)	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,150,522 (GRCm39)	H296Y	probably benign	Het

Other mutations in Klc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Klc3	APN	7	19,130,220 (GRCm39)	missense	possibly damaging	0.78
IGL02215:Klc3	APN	7	19,129,750 (GRCm39)	missense	probably damaging	1.00
IGL02530:Klc3	APN	7	19,130,969 (GRCm39)	missense	probably benign	0.11
IGL03062:Klc3	APN	7	19,128,987 (GRCm39)	missense	probably damaging	1.00
IGL02802:Klc3	UTSW	7	19,129,049 (GRCm39)	missense	possibly damaging	0.86
R0164:Klc3	UTSW	7	19,128,851 (GRCm39)	missense	possibly damaging	0.68
R0164:Klc3	UTSW	7	19,128,851 (GRCm39)	missense	possibly damaging	0.68
R1864:Klc3	UTSW	7	19,131,966 (GRCm39)	missense	probably damaging	0.98
R4702:Klc3	UTSW	7	19,129,756 (GRCm39)	missense	probably damaging	1.00
R5301:Klc3	UTSW	7	19,130,274 (GRCm39)	missense	probably damaging	1.00
R5436:Klc3	UTSW	7	19,131,884 (GRCm39)	splice site	probably null
R5497:Klc3	UTSW	7	19,128,595 (GRCm39)	missense	probably benign
R5523:Klc3	UTSW	7	19,130,932 (GRCm39)	missense	probably damaging	1.00
R5672:Klc3	UTSW	7	19,130,256 (GRCm39)	missense	probably damaging	1.00
R5822:Klc3	UTSW	7	19,129,724 (GRCm39)	critical splice donor site	probably null
R6576:Klc3	UTSW	7	19,131,905 (GRCm39)	missense	possibly damaging	0.75
R8708:Klc3	UTSW	7	19,129,784 (GRCm39)	missense	probably damaging	1.00
R9762:Klc3	UTSW	7	19,132,023 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGATCTTGTGTGCTGATGC -3'
(R):5'- TAAGCTCCGGGAATCCATCAG -3'

Sequencing Primer
(F):5'- TGCTGATGCTCAGGGTCC -3'
(R):5'- TCCATCAGGCGAGGAAGC -3'

Posted On

2019-09-13