Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01573:Klhl1'

91170

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl1

Ensembl Gene

ENSMUSG00000022076

Gene Name

kelch-like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

IGL01573

Quality Score

Status

Chromosome

Chromosomal Location

96342695-96756525 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 96438640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022666 (fasta)

Gene Model

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

AlphaFold

Q9JI74

Predicted Effect

probably benign
Transcript: ENSMUST00000022666

SMART Domains

Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B3gntl1	A	G	11: 121,561,789 (GRCm39)	S58P	probably damaging	Het
Cacna1e	T	C	1: 154,347,113 (GRCm39)	D1018G	probably benign	Het
Cenpq	T	C	17: 41,240,936 (GRCm39)	I108V	possibly damaging	Het
Il7	T	C	3: 7,638,903 (GRCm39)	I154M	possibly damaging	Het
Itga9	C	A	9: 118,706,298 (GRCm39)		probably benign	Het
Lrrc72	T	A	12: 36,262,561 (GRCm39)		probably null	Het
Mbd3	G	T	10: 80,229,095 (GRCm39)	Q233K	probably benign	Het
Mettl5	G	A	2: 69,711,659 (GRCm39)	A69V	probably damaging	Het
Naip1	C	A	13: 100,563,890 (GRCm39)	C425F	probably benign	Het
Ncor2	T	C	5: 125,162,090 (GRCm39)	I395V	unknown	Het
Nelfb	A	G	2: 25,093,969 (GRCm39)	L393P	probably damaging	Het
Or4a70	A	T	2: 89,324,545 (GRCm39)	M37K	probably damaging	Het
Rgs5	T	C	1: 169,504,413 (GRCm39)	I21T	probably benign	Het
Slc22a2	G	A	17: 12,824,848 (GRCm39)	V237I	probably damaging	Het
Slc5a1	A	G	5: 33,318,209 (GRCm39)	M621V	probably benign	Het
Slco1a4	A	G	6: 141,758,577 (GRCm39)		probably benign	Het
Smg1	A	G	7: 117,767,185 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,274,700 (GRCm39)	M15T	possibly damaging	Het

Other mutations in Klhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02055:Klhl1	APN	14	96,517,539 (GRCm39)	missense	possibly damaging	0.96
IGL02110:Klhl1	APN	14	96,374,039 (GRCm39)	missense	probably benign	0.27
IGL02216:Klhl1	APN	14	96,360,658 (GRCm39)	missense	probably benign	0.08
IGL02307:Klhl1	APN	14	96,438,809 (GRCm39)	missense	possibly damaging	0.68
IGL02538:Klhl1	APN	14	96,477,649 (GRCm39)	missense	probably benign	0.03
IGL02559:Klhl1	APN	14	96,389,396 (GRCm39)	missense	possibly damaging	0.95
IGL02682:Klhl1	APN	14	96,438,778 (GRCm39)	missense	possibly damaging	0.83
IGL03228:Klhl1	APN	14	96,477,763 (GRCm39)	missense	probably damaging	1.00
LCD18:Klhl1	UTSW	14	96,555,166 (GRCm39)	intron	probably benign
P0041:Klhl1	UTSW	14	96,517,647 (GRCm39)	missense	probably damaging	1.00
R0270:Klhl1	UTSW	14	96,755,780 (GRCm39)	start gained	probably benign
R0419:Klhl1	UTSW	14	96,619,225 (GRCm39)	missense	probably benign	0.30
R0938:Klhl1	UTSW	14	96,389,476 (GRCm39)	nonsense	probably null
R1465:Klhl1	UTSW	14	96,477,649 (GRCm39)	missense	probably benign	0.03
R1465:Klhl1	UTSW	14	96,477,649 (GRCm39)	missense	probably benign	0.03
R1590:Klhl1	UTSW	14	96,606,072 (GRCm39)	missense	probably damaging	1.00
R1597:Klhl1	UTSW	14	96,438,647 (GRCm39)	critical splice donor site	probably null
R1893:Klhl1	UTSW	14	96,477,642 (GRCm39)	critical splice donor site	probably null
R1928:Klhl1	UTSW	14	96,584,225 (GRCm39)	missense	probably benign	0.02
R2272:Klhl1	UTSW	14	96,755,344 (GRCm39)	missense	probably benign	0.00
R3612:Klhl1	UTSW	14	96,619,206 (GRCm39)	critical splice donor site	probably null
R3852:Klhl1	UTSW	14	96,517,641 (GRCm39)	missense	probably benign	0.12
R3872:Klhl1	UTSW	14	96,755,615 (GRCm39)	missense	probably benign	0.03
R3874:Klhl1	UTSW	14	96,755,615 (GRCm39)	missense	probably benign	0.03
R3923:Klhl1	UTSW	14	96,584,316 (GRCm39)	missense	possibly damaging	0.46
R3925:Klhl1	UTSW	14	96,584,316 (GRCm39)	missense	possibly damaging	0.46
R3926:Klhl1	UTSW	14	96,584,316 (GRCm39)	missense	possibly damaging	0.46
R4151:Klhl1	UTSW	14	96,755,752 (GRCm39)	start codon destroyed	probably null	0.73
R4502:Klhl1	UTSW	14	96,755,282 (GRCm39)	missense	probably benign
R4536:Klhl1	UTSW	14	96,374,019 (GRCm39)	critical splice donor site	probably null
R4729:Klhl1	UTSW	14	96,517,584 (GRCm39)	missense	probably damaging	1.00
R4756:Klhl1	UTSW	14	96,389,402 (GRCm39)	missense	probably benign	0.39
R5001:Klhl1	UTSW	14	96,374,046 (GRCm39)	missense	probably damaging	0.96
R5022:Klhl1	UTSW	14	96,374,142 (GRCm39)	missense	probably benign	0.31
R5616:Klhl1	UTSW	14	96,755,729 (GRCm39)	missense	probably benign	0.44
R5634:Klhl1	UTSW	14	96,477,707 (GRCm39)	missense	probably damaging	0.96
R5700:Klhl1	UTSW	14	96,755,476 (GRCm39)	missense	probably benign
R5701:Klhl1	UTSW	14	96,438,816 (GRCm39)	missense	probably benign
R5934:Klhl1	UTSW	14	96,360,651 (GRCm39)	critical splice donor site	probably null
R5950:Klhl1	UTSW	14	96,477,790 (GRCm39)	missense	probably damaging	0.99
R6454:Klhl1	UTSW	14	96,517,527 (GRCm39)	missense	possibly damaging	0.66
R6496:Klhl1	UTSW	14	96,477,652 (GRCm39)	missense	probably benign	0.03
R6606:Klhl1	UTSW	14	96,360,658 (GRCm39)	missense	possibly damaging	0.52
R6644:Klhl1	UTSW	14	96,755,354 (GRCm39)	missense	probably benign
R6745:Klhl1	UTSW	14	96,517,438 (GRCm39)	critical splice donor site	probably null
R6919:Klhl1	UTSW	14	96,374,030 (GRCm39)	missense	probably benign	0.00
R7029:Klhl1	UTSW	14	96,755,632 (GRCm39)	missense	probably benign	0.01
R7195:Klhl1	UTSW	14	96,517,513 (GRCm39)	missense	probably benign	0.08
R7467:Klhl1	UTSW	14	96,360,713 (GRCm39)	missense	probably damaging	1.00
R7483:Klhl1	UTSW	14	96,584,304 (GRCm39)	missense	probably benign	0.09
R7650:Klhl1	UTSW	14	96,584,379 (GRCm39)	missense	probably damaging	0.96
R7817:Klhl1	UTSW	14	96,374,186 (GRCm39)	missense	possibly damaging	0.91
R8221:Klhl1	UTSW	14	96,517,546 (GRCm39)	missense	possibly damaging	0.69
R8444:Klhl1	UTSW	14	96,755,326 (GRCm39)	missense	probably benign
R8483:Klhl1	UTSW	14	96,619,370 (GRCm39)	missense	probably benign
R9100:Klhl1	UTSW	14	96,584,364 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09