Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01929:Klc4'

180392

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klc4

Ensembl Gene

ENSMUSG00000003546

Gene Name

kinesin light chain 4

Synonyms

Knsl8, 1200014P03Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

IGL01929

Quality Score

Status

Chromosome

Chromosomal Location

46630631-46645144 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 46644247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002844] [ENSMUST00000003642] [ENSMUST00000113429] [ENSMUST00000113430]

AlphaFold

Q9DBS5

Predicted Effect

probably benign
Transcript: ENSMUST00000002844

SMART Domains

Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Ribosomal_L2	84	166	3.44e-29	SMART
Ribosomal_L2_C	177	298	1.32e-30	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000003642

SMART Domains

Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546

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: ENSMUST00000113429

SMART Domains

Protein: ENSMUSP00000109056
Gene: ENSMUSG00000002767

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ribosomal_L2	84	166	1.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113430

SMART Domains

Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ribosomal_L2	82	164	1.6e-31	PFAM
Pfam:Ribosomal_L2_C	175	279	5.6e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,344,138	P467S	probably benign	Het
Areg	T	C	5: 91,144,453	I204T	probably benign	Het
Dnah3	A	T	7: 119,951,651	Y3137*	probably null	Het
Dnajc10	T	G	2: 80,328,076	C270W	probably damaging	Het
Epc1	A	G	18: 6,449,217	F427L	possibly damaging	Het
Fcgbp	A	T	7: 28,103,963	D1664V	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm4951	A	G	18: 60,246,482	E363G	probably benign	Het
Gm6686	G	A	17: 15,566,315		probably benign	Het
Grik4	C	A	9: 42,566,298		probably null	Het
H2-Oa	G	A	17: 34,094,082		probably null	Het
Il20ra	T	G	10: 19,759,271	L420R	probably benign	Het
Kcnk2	A	G	1: 189,340,030	S34P	probably damaging	Het
Large1	T	C	8: 72,859,275	Y401C	probably damaging	Het
Lrrc59	T	C	11: 94,643,516	V300A	possibly damaging	Het
Myom2	T	A	8: 15,117,698	D1094E	probably damaging	Het
Nfrkb	T	A	9: 31,419,873	I1230N	possibly damaging	Het
Olfr543	A	G	7: 102,477,166	S235P	possibly damaging	Het
Prr14l	T	C	5: 32,828,243	T146A	probably benign	Het
Psmd5	A	G	2: 34,863,466	V221A	probably damaging	Het
Ptchd4	A	T	17: 42,503,322	T705S	probably benign	Het
Ptprm	G	A	17: 66,690,549	A1184V	probably damaging	Het
Rb1cc1	G	T	1: 6,240,159	K260N	possibly damaging	Het
Rbm28	T	A	6: 29,128,585	D46V	possibly damaging	Het
Sdk1	T	C	5: 141,953,030	Y403H	probably damaging	Het
Slco3a1	A	G	7: 74,318,605		probably benign	Het
Slfn8	T	A	11: 83,003,405	K803*	probably null	Het
Vmn2r82	A	T	10: 79,378,711	D176V	probably damaging	Het
Vmn2r-ps130	A	T	17: 23,076,877	I674F	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr70	A	T	15: 7,920,634		probably null	Het
Xdh	A	T	17: 73,934,855	C150S	probably damaging	Het
Xpo5	G	T	17: 46,202,929	M3I	probably benign	Het

Other mutations in Klc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Klc4	APN	17	46635435	missense	probably damaging	1.00
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
R1653:Klc4	UTSW	17	46631859	missense	possibly damaging	0.91
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
R9157:Klc4	UTSW	17	46639435	missense	probably damaging	0.99
R9309:Klc4	UTSW	17	46636624	missense	probably damaging	0.99
X0025:Klc4	UTSW	17	46640675	missense	probably benign	0.12
Z1177:Klc4	UTSW	17	46635409	critical splice donor site	probably null

Posted On

2014-05-07