Mutagenetix > Incidental Mutation

Incidental Mutation 'R4536:Klhl1'

333340

Institutional Source

Beutler Lab

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 #

R4536 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96342695-96756525 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 96374019 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 null
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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amot	A	G	X: 144,263,138 (GRCm39)	S398P	probably benign	Het
Arhgef17	G	C	7: 100,579,061 (GRCm39)	S629C	probably damaging	Het
Atg5lrt	G	A	10: 95,972,564 (GRCm39)	A34T	probably benign	Het
Atp5if1	A	C	4: 132,260,870 (GRCm39)	S4A	possibly damaging	Het
Atp8b2	G	A	3: 89,849,091 (GRCm39)	A1081V	probably benign	Het
Atr	A	G	9: 95,756,471 (GRCm39)	D867G	probably benign	Het
C1qtnf3	G	A	15: 10,972,113 (GRCm39)	S206N	probably damaging	Het
Cep152	A	C	2: 125,444,867 (GRCm39)		probably null	Het
Cetn1	T	C	18: 9,618,998 (GRCm39)	E141G	probably damaging	Het
Dennd2b	A	T	7: 109,130,363 (GRCm39)	S879R	probably damaging	Het
Erbb4	A	T	1: 68,385,781 (GRCm39)	N269K	probably damaging	Het
Exoc4	C	T	6: 33,254,179 (GRCm39)	R112C	probably damaging	Het
Frmd4b	T	A	6: 97,287,693 (GRCm39)	Q241L	possibly damaging	Het
Fyco1	A	G	9: 123,667,953 (GRCm39)	V91A	probably damaging	Het
Gls2	G	A	10: 128,036,806 (GRCm39)	V196I	probably benign	Het
Hormad1	T	C	3: 95,492,452 (GRCm39)	V343A	probably benign	Het
Incenp	T	C	19: 9,861,303 (GRCm39)	N450S	unknown	Het
Mettl4	C	A	17: 95,042,933 (GRCm39)	S301I	possibly damaging	Het
Mlxip	G	A	5: 123,588,566 (GRCm39)	D819N	probably damaging	Het
Or10d5	A	T	9: 39,861,731 (GRCm39)	L112Q	probably damaging	Het
Pam	T	A	1: 97,772,424 (GRCm39)	K440*	probably null	Het
Phldb2	T	C	16: 45,591,044 (GRCm39)	M996V	probably benign	Het
Pira13	T	A	7: 3,825,251 (GRCm39)	M464L	probably benign	Het
Rad51ap2	A	G	12: 11,507,850 (GRCm39)	S591G	possibly damaging	Het
Rfx6	A	G	10: 51,599,880 (GRCm39)	N542S	probably benign	Het
Slc44a4	T	A	17: 35,142,815 (GRCm39)	C254S	probably damaging	Het
Sptbn2	C	T	19: 4,782,630 (GRCm39)	A522V	probably damaging	Het
Syt10	C	T	15: 89,666,825 (GRCm39)	D509N	probably damaging	Het
Tango2	A	G	16: 18,142,219 (GRCm39)		probably null	Het
Tfpi2	T	C	6: 3,968,044 (GRCm39)	N32S	possibly damaging	Het
Trafd1	T	C	5: 121,517,746 (GRCm39)		probably null	Het
Ttll2	A	T	17: 7,619,120 (GRCm39)	I269N	probably benign	Het
Tysnd1	G	A	10: 61,531,832 (GRCm39)	W161*	probably null	Het
Uggt2	A	T	14: 119,256,970 (GRCm39)	M1088K	probably benign	Het

Other mutations in Klhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01573:Klhl1	APN	14	96,438,640 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCACGATTGAAAAGTGACATGC -3'
(R):5'- GTCGAGATGGAAGTTCCTGTC -3'

Sequencing Primer
(F):5'- GTTCATATGCTAGAGAGGAGAT -3'
(R):5'- GTTCCTGTCTGAGTTCAATGGAATAC -3'

Posted On

2015-08-18