Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02216:Klhl1'

284902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl1

Ensembl Gene

ENSMUSG00000022076

Gene Name

kelch-like 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

96102736-96519102 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96123222 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 731 (T731S)

Ref Sequence

ENSEMBL: ENSMUSP00000022666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022666]

Predicted Effect

probably benign
Transcript: ENSMUST00000022666
AA Change: T731S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: T731S

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
low complexity region	74	90	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
BTB	215	312	1.13e-28	SMART
BACK	317	418	5.03e-34	SMART
Kelch	463	509	8.86e-10	SMART
Kelch	510	556	1.04e-15	SMART
Kelch	557	603	6.76e-15	SMART
Kelch	604	650	2.23e-15	SMART
Kelch	651	703	3.09e-9	SMART
Kelch	704	750	3.43e-16	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice both homozygous and heterozygous for disruption of this gene develop abnormalities in gait and defects in motor coordination with time. Dendritic atrophy of Purkinje cells is also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	T	18: 38,252,860	I102F	probably damaging	Het
4930544D05Rik	T	C	11: 70,616,179	F48L	possibly damaging	Het
5830473C10Rik	T	C	5: 90,579,579		probably benign	Het
Adamts12	A	G	15: 11,241,485	N381S	possibly damaging	Het
Akp3	A	T	1: 87,127,650	Q473L	probably damaging	Het
Ap5s1	T	A	2: 131,212,967		probably benign	Het
Atp10b	T	A	11: 43,259,789	L1438Q	probably damaging	Het
B3galt4	G	A	17: 33,950,565	P233L	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,139,313	E393*	probably null	Het
Cd209a	G	T	8: 3,745,576	T165N	probably damaging	Het
Chid1	T	C	7: 141,496,593		probably benign	Het
Cln3	A	T	7: 126,575,342		probably null	Het
Cped1	A	T	6: 22,059,945	R203S	probably damaging	Het
Dnttip2	G	T	3: 122,276,261	W375L	probably benign	Het
Dync1h1	T	C	12: 110,663,002	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,372,070	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,131,719	E145V	probably null	Het
Gne	T	C	4: 44,044,761	K458E	probably benign	Het
Grid2	G	T	6: 64,345,666	R550L	probably damaging	Het
Kng1	T	A	16: 23,058,533	D30E	probably damaging	Het
Kyat1	A	G	2: 30,187,252	V158A	probably benign	Het
Mcm8	G	T	2: 132,839,529	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092	H3638Y	probably benign	Het
Neb	T	G	2: 52,226,490	T4158P	probably benign	Het
Neo1	T	C	9: 58,917,053	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,594,963	V614D	probably damaging	Het
Olfr860	G	A	9: 19,846,565	S18L	probably damaging	Het
Otog	T	C	7: 46,301,468	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,834,897	R1962S	probably damaging	Het
Plxnb1	A	G	9: 109,100,850	Y258C	probably damaging	Het
Pramef8	T	A	4: 143,417,728		probably null	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Rag1	A	T	2: 101,643,381	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,529,707		probably benign	Het
Rnf112	C	T	11: 61,449,978	V472M	probably damaging	Het
Rps18	A	G	17: 33,952,041		probably benign	Het
Rptn	T	C	3: 93,395,773	S138P	possibly damaging	Het
Sbpl	A	C	17: 23,953,716	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,905,164	M241L	probably benign	Het
Slc22a17	T	C	14: 54,907,976	*198W	probably null	Het
Smc3	C	T	19: 53,621,844	R221C	probably damaging	Het
Snai1	A	G	2: 167,538,848	E87G	probably benign	Het
Snx22	C	A	9: 66,069,188	A49S	probably benign	Het
Tas2r143	A	T	6: 42,400,334	R33*	probably null	Het
Try4	A	G	6: 41,305,031	I184V	probably benign	Het
Ttn	T	A	2: 76,754,552	K20355*	probably null	Het
Ttn	A	G	2: 76,791,725	V15491A	probably benign	Het
Vmn1r170	A	G	7: 23,606,490	T106A	probably damaging	Het
Vmn2r59	A	T	7: 42,012,393	V666E	probably damaging	Het
Vsx1	T	C	2: 150,684,575	N221S	possibly damaging	Het
Zcchc6	T	C	13: 59,800,423	T293A	probably benign	Het
Zfp846	A	G	9: 20,588,609	E45G	probably damaging	Het

Other mutations in Klhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01573:Klhl1	APN	14	96201204	splice site	probably benign
IGL02055:Klhl1	APN	14	96280103	missense	possibly damaging	0.96
IGL02110:Klhl1	APN	14	96136603	missense	probably benign	0.27
IGL02307:Klhl1	APN	14	96201373	missense	possibly damaging	0.68
IGL02538:Klhl1	APN	14	96240213	missense	probably benign	0.03
IGL02559:Klhl1	APN	14	96151960	missense	possibly damaging	0.95
IGL02682:Klhl1	APN	14	96201342	missense	possibly damaging	0.83
IGL03228:Klhl1	APN	14	96240327	missense	probably damaging	1.00
LCD18:Klhl1	UTSW	14	96317730	intron	probably benign
P0041:Klhl1	UTSW	14	96280211	missense	probably damaging	1.00
R0270:Klhl1	UTSW	14	96518344	start gained	probably benign
R0419:Klhl1	UTSW	14	96381789	missense	probably benign	0.30
R0938:Klhl1	UTSW	14	96152040	nonsense	probably null
R1465:Klhl1	UTSW	14	96240213	missense	probably benign	0.03
R1465:Klhl1	UTSW	14	96240213	missense	probably benign	0.03
R1590:Klhl1	UTSW	14	96368636	missense	probably damaging	1.00
R1597:Klhl1	UTSW	14	96201211	critical splice donor site	probably null
R1893:Klhl1	UTSW	14	96240206	critical splice donor site	probably null
R1928:Klhl1	UTSW	14	96346789	missense	probably benign	0.02
R2272:Klhl1	UTSW	14	96517908	missense	probably benign	0.00
R3612:Klhl1	UTSW	14	96381770	critical splice donor site	probably null
R3852:Klhl1	UTSW	14	96280205	missense	probably benign	0.12
R3872:Klhl1	UTSW	14	96518179	missense	probably benign	0.03
R3874:Klhl1	UTSW	14	96518179	missense	probably benign	0.03
R3923:Klhl1	UTSW	14	96346880	missense	possibly damaging	0.46
R3925:Klhl1	UTSW	14	96346880	missense	possibly damaging	0.46
R3926:Klhl1	UTSW	14	96346880	missense	possibly damaging	0.46
R4151:Klhl1	UTSW	14	96518316	start codon destroyed	probably null	0.73
R4502:Klhl1	UTSW	14	96517846	missense	probably benign
R4536:Klhl1	UTSW	14	96136583	critical splice donor site	probably null
R4729:Klhl1	UTSW	14	96280148	missense	probably damaging	1.00
R4756:Klhl1	UTSW	14	96151966	missense	probably benign	0.39
R5001:Klhl1	UTSW	14	96136610	missense	probably damaging	0.96
R5022:Klhl1	UTSW	14	96136706	missense	probably benign	0.31
R5616:Klhl1	UTSW	14	96518293	missense	probably benign	0.44
R5634:Klhl1	UTSW	14	96240271	missense	probably damaging	0.96
R5700:Klhl1	UTSW	14	96518040	missense	probably benign
R5701:Klhl1	UTSW	14	96201380	missense	probably benign
R5934:Klhl1	UTSW	14	96123215	critical splice donor site	probably null
R5950:Klhl1	UTSW	14	96240354	missense	probably damaging	0.99
R6454:Klhl1	UTSW	14	96280091	missense	possibly damaging	0.66
R6496:Klhl1	UTSW	14	96240216	missense	probably benign	0.03
R6606:Klhl1	UTSW	14	96123222	missense	possibly damaging	0.52
R6644:Klhl1	UTSW	14	96517918	missense	probably benign
R6745:Klhl1	UTSW	14	96280002	critical splice donor site	probably null
R6919:Klhl1	UTSW	14	96136594	missense	probably benign	0.00
R7029:Klhl1	UTSW	14	96518196	missense	probably benign	0.01
R7195:Klhl1	UTSW	14	96280077	missense	probably benign	0.08
R7467:Klhl1	UTSW	14	96123277	missense	probably damaging	1.00
R7483:Klhl1	UTSW	14	96346868	missense	probably benign	0.09
R7650:Klhl1	UTSW	14	96346943	missense	probably damaging	0.96
R7817:Klhl1	UTSW	14	96136750	missense	possibly damaging	0.91

Posted On

2015-04-16