Mutagenetix > Incidental Mutations

Incidental Mutation 'R1653:Klc4'

188887

Institutional Source

Beutler Lab

Gene Symbol

Klc4

Ensembl Gene

ENSMUSG00000003546

Gene Name

kinesin light chain 4

Synonyms

Knsl8, 1200014P03Rik

MMRRC Submission

039689-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R1653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46630631-46645144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46631859 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 593 (Y593C)

Ref Sequence

ENSEMBL: ENSMUSP00000003642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003642] [ENSMUST00000044442]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003642
AA Change: Y593C

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546
AA Change: Y593C

Domain	Start	End	E-Value	Type
coiled coil region	90	155	N/A	INTRINSIC
low complexity region	194	204	N/A	INTRINSIC
Pfam:TPR_10	210	251	9.4e-9	PFAM
TPR	253	286	3.32e-1	SMART
TPR	295	328	7.16e-6	SMART
TPR	337	370	4.21e-3	SMART
TPR	379	412	9.03e-3	SMART
low complexity region	429	443	N/A	INTRINSIC
TPR	464	497	9.99e1	SMART
low complexity region	609	619	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000044442

SMART Domains

Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGc2	36	100	1.48e-6	SMART
IGc2	133	199	8.12e-13	SMART
IGc2	229	300	5.01e-4	SMART
IGc2	326	390	1.96e-6	SMART
IG	410	491	6.02e-7	SMART
IGc2	507	569	1.19e-10	SMART
IGc2	596	663	2.6e-11	SMART
transmembrane domain	696	718	N/A	INTRINSIC
TyrKc	788	1053	4.34e-115	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,480	H483Q	possibly damaging	Het
Adam34	A	T	8: 43,650,645	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898	Y617C	probably damaging	Het
Capn8	A	G	1: 182,623,951	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077	C70R	probably damaging	Het
Gm12258	T	C	11: 58,858,287	I96T	possibly damaging	Het
Gpr183	A	G	14: 121,954,263	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078	V381A	probably benign	Het
Irs3	C	A	5: 137,644,521	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,602,481	F410S	probably damaging	Het
Lce1h	T	A	3: 92,763,443	Q134L	unknown	Het
Lyst	T	C	13: 13,635,226	S494P	probably damaging	Het
March3	A	G	18: 56,811,895	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653	R445H	probably damaging	Het
Olfr1507	A	T	14: 52,490,772	F64Y	probably damaging	Het
Olfr299	T	C	7: 86,466,212	V267A	probably benign	Het
Olfr683	T	A	7: 105,143,870	D141V	possibly damaging	Het
Pak7	C	T	2: 136,116,887	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995		probably null	Het
Sin3b	G	T	8: 72,741,519	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809	T609A	probably benign	Het
Skint5	A	T	4: 113,490,678	S1289T	unknown	Het
Slc32a1	A	T	2: 158,614,889	H488L	probably benign	Het
Slc35b3	A	G	13: 38,955,798	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,080,527	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924	R467H	possibly damaging	Het
Zfp839	T	A	12: 110,855,250	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577	Q1106*	probably null	Het
Zrsr1	T	A	11: 22,974,158	C311S	probably damaging	Het

Other mutations in Klc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Klc4	APN	17	46635435	missense	probably damaging	1.00
IGL01929:Klc4	APN	17	46644247	critical splice donor site	probably null
IGL02550:Klc4	APN	17	46636910	splice site	probably null
IGL03395:Klc4	APN	17	46632863	missense	probably damaging	1.00
R0033:Klc4	UTSW	17	46635433	missense	probably damaging	1.00
R1681:Klc4	UTSW	17	46636770	missense	probably damaging	0.99
R1944:Klc4	UTSW	17	46636627	missense	probably damaging	1.00
R4981:Klc4	UTSW	17	46644361	missense	probably benign	0.03
R5417:Klc4	UTSW	17	46632031	critical splice donor site	probably null
R5577:Klc4	UTSW	17	46635429	missense	probably damaging	1.00
R5742:Klc4	UTSW	17	46642271	missense	probably damaging	1.00
R6224:Klc4	UTSW	17	46640062	missense	possibly damaging	0.71
R6245:Klc4	UTSW	17	46636679	missense	probably damaging	1.00
R6516:Klc4	UTSW	17	46642255	missense	probably damaging	1.00
R6890:Klc4	UTSW	17	46631843	missense	probably benign	0.01
R6925:Klc4	UTSW	17	46636229	missense	possibly damaging	0.69
R7466:Klc4	UTSW	17	46639910	missense	probably benign	0.22
R7585:Klc4	UTSW	17	46631884	missense	probably benign	0.01
R8273:Klc4	UTSW	17	46642154	missense	possibly damaging	0.92
R8510:Klc4	UTSW	17	46644304	missense	possibly damaging	0.93
R8723:Klc4	UTSW	17	46640700	missense	probably benign	0.38
X0025:Klc4	UTSW	17	46640675	missense	probably benign	0.12
Z1177:Klc4	UTSW	17	46635409	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCCATGCTGTCAGTCTGACTCC -3'
(R):5'- CAAGATCCGGGATGTGCTTCGTAG -3'

Sequencing Primer
(F):5'- CTGTCAGTCTGACTCCTGAAGAG -3'
(R):5'- CCTTCCAGGTACATGACAAGTG -3'

Posted On

2014-05-09