Mutagenetix > Incidental Mutation

Incidental Mutation 'R1597:Klhl1'

175897

Institutional Source

Beutler Lab

Gene Symbol

Klhl1

Ensembl Gene

ENSMUSG00000022076

Gene Name

kelch-like 1

Synonyms

MMRRC Submission

039634-MU

Accession Numbers

Essential gene?

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

Stock #

R1597 (G1)

Quality Score

225

Status

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 T at 96438647 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

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

100% (77/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	T	19: 34,229,983 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,902,881 (GRCm39)	N748S	probably benign	Het
Aox1	T	A	1: 58,086,326 (GRCm39)	I77N	probably damaging	Het
Ap1s1	A	T	5: 137,072,095 (GRCm39)	M20K	probably damaging	Het
Atad3a	A	T	4: 155,835,892 (GRCm39)		probably null	Het
Atp1b1	G	T	1: 164,265,889 (GRCm39)	R291S	probably damaging	Het
Birc7	T	C	2: 180,570,974 (GRCm39)	V12A	possibly damaging	Het
Btnl2	T	C	17: 34,582,211 (GRCm39)	V259A	probably damaging	Het
Cdh11	A	T	8: 103,377,343 (GRCm39)	N434K	probably benign	Het
Cel	G	T	2: 28,450,479 (GRCm39)		probably benign	Het
Col10a1	A	G	10: 34,271,074 (GRCm39)	K349E	probably damaging	Het
Ddhd2	A	G	8: 26,239,768 (GRCm39)	V315A	probably benign	Het
Dnah17	C	A	11: 117,994,324 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,595,474 (GRCm39)	T441A	probably benign	Het
Ermap	A	T	4: 119,041,152 (GRCm39)	I286N	probably damaging	Het
Fbxl17	T	C	17: 63,794,813 (GRCm39)	K423R	probably damaging	Het
Frem2	T	C	3: 53,561,940 (GRCm39)	T856A	probably benign	Het
Gas6	T	C	8: 13,543,901 (GRCm39)	E64G	probably damaging	Het
Gzma	T	A	13: 113,232,331 (GRCm39)	N190I	probably damaging	Het
Ifngr1	C	T	10: 19,485,090 (GRCm39)	T363M	probably damaging	Het
Itga7	A	G	10: 128,782,732 (GRCm39)	T690A	probably benign	Het
Kif15	A	G	9: 122,823,074 (GRCm39)	E485G	probably benign	Het
Kif18a	A	G	2: 109,123,336 (GRCm39)	I203M	probably damaging	Het
Lrch3	C	T	16: 32,770,781 (GRCm39)	Q128*	probably null	Het
Lrriq4	C	G	3: 30,705,037 (GRCm39)	P355R	probably damaging	Het
Mcm10	A	T	2: 5,003,563 (GRCm39)	H551Q	probably damaging	Het
Mcm3ap	T	C	10: 76,319,060 (GRCm39)	F763L	probably damaging	Het
Mdc1	T	A	17: 36,156,758 (GRCm39)	V55E	probably damaging	Het
Me2	A	T	18: 73,931,016 (GRCm39)	N92K	probably damaging	Het
Mtss1	A	G	15: 58,815,560 (GRCm39)	S667P	probably damaging	Het
Mup5	A	T	4: 61,753,317 (GRCm39)	Y15N	possibly damaging	Het
Mx1	T	A	16: 97,256,329 (GRCm39)	M197L	probably damaging	Het
N4bp2	C	T	5: 65,964,483 (GRCm39)	T844I	probably benign	Het
Nlrc3	T	A	16: 3,781,859 (GRCm39)	R517W	probably damaging	Het
Nos3	A	T	5: 24,573,995 (GRCm39)	I227F	probably damaging	Het
Or52a5	A	G	7: 103,427,267 (GRCm39)	F95S	probably benign	Het
Pabpc2	A	G	18: 39,906,953 (GRCm39)	N73D	probably damaging	Het
Pcdhb18	A	G	18: 37,624,820 (GRCm39)	R717G	probably benign	Het
Pcsk5	T	A	19: 17,413,964 (GRCm39)	M1702L	probably benign	Het
Plxna2	A	C	1: 194,431,614 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,630,755 (GRCm39)	M1221T	possibly damaging	Het
Polr2b	A	G	5: 77,473,948 (GRCm39)	D384G	probably damaging	Het
Ppl	T	A	16: 4,925,438 (GRCm39)	H67L	probably benign	Het
Psmd5	A	G	2: 34,757,035 (GRCm39)	L63S	probably damaging	Het
Psme1	A	G	14: 55,818,222 (GRCm39)	T150A	probably damaging	Het
Rapgef5	C	T	12: 117,621,940 (GRCm39)	R33C	probably damaging	Het
Rela	G	A	19: 5,695,359 (GRCm39)	R295H	probably damaging	Het
Rpe65	T	A	3: 159,320,421 (GRCm39)	V326E	probably damaging	Het
Scn5a	C	A	9: 119,391,563 (GRCm39)	R43L	probably damaging	Het
Skida1	T	C	2: 18,051,143 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,283,587 (GRCm39)	A469T	probably benign	Het
Spaca7	G	T	8: 12,630,991 (GRCm39)	E48*	probably null	Het
Syn3	G	T	10: 85,970,908 (GRCm39)	T238K	probably benign	Het
Taok1	A	G	11: 77,470,626 (GRCm39)	S60P	probably benign	Het
Tecpr1	A	G	5: 144,151,128 (GRCm39)	I256T	probably benign	Het
Tenm4	T	A	7: 96,552,196 (GRCm39)		probably null	Het
Tex15	A	G	8: 34,061,511 (GRCm39)	T588A	probably damaging	Het
Tgfbi	T	A	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem62	G	A	2: 120,814,843 (GRCm39)	A169T	probably benign	Het
Tnc	A	G	4: 63,924,621 (GRCm39)	S1026P	probably benign	Het
Tnik	T	C	3: 28,658,418 (GRCm39)	S568P	probably damaging	Het
Trpm6	A	T	19: 18,804,888 (GRCm39)	I947F	probably damaging	Het
Ttc27	T	A	17: 75,170,402 (GRCm39)	L832Q	possibly damaging	Het
U2surp	C	T	9: 95,363,793 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,841,064 (GRCm39)	D1009E	possibly damaging	Het
Unc13d	T	C	11: 115,965,262 (GRCm39)	E192G	probably benign	Het
Vmn2r71	T	C	7: 85,273,352 (GRCm39)	V722A	possibly damaging	Het
Zfp386	T	C	12: 116,023,709 (GRCm39)	S476P	probably damaging	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zfyve16	T	A	13: 92,644,755 (GRCm39)	N1149I	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
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

Predicted Primers

PCR Primer
(F):5'- ATGAGATGCTCCACGGTAGAGCAG -3'
(R):5'- ATGGCAGAAGGCTTCAGTTCGG -3'

Sequencing Primer
(F):5'- GGAGCCAGCTCAATTCATCTC -3'
(R):5'- AAGGCTTCAGTTCGGTGTGG -3'

Posted On

2014-04-24