Mutagenetix > Incidental Mutation

Incidental Mutation 'R4729:Klhl1'

358709

Institutional Source

Beutler Lab

Gene Symbol

Klhl1

Ensembl Gene

ENSMUSG00000022076

Gene Name

kelch-like 1

Synonyms

MMRRC Submission

041603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96342695-96756525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96517584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 364 (L364P)

Ref Sequence

ENSEMBL: ENSMUSP00000022666 (fasta)

Gene Model

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

AlphaFold

Q9JI74

Predicted Effect

probably damaging
Transcript: ENSMUST00000022666
AA Change: L364P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: L364P

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: 94.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,667,187 (GRCm39)	L220H	unknown	Het
Amt	T	A	9: 108,177,851 (GRCm39)	L272Q	probably damaging	Het
Ank2	G	C	3: 126,770,545 (GRCm39)	Y894*	probably null	Het
Ankzf1	T	A	1: 75,170,908 (GRCm39)	F105I	probably damaging	Het
Aox4	C	A	1: 58,298,236 (GRCm39)	Y1067*	probably null	Het
BC034090	T	A	1: 155,100,836 (GRCm39)	Q476L	probably damaging	Het
Bhmt	G	T	13: 93,763,871 (GRCm39)	R57S	probably damaging	Het
Cacna1c	A	T	6: 118,633,136 (GRCm39)	F964L	probably damaging	Het
Celsr3	A	C	9: 108,724,851 (GRCm39)	S396R	probably benign	Het
Cpne4	C	A	9: 104,799,755 (GRCm39)	Q191K	probably damaging	Het
Csnk1g2	T	C	10: 80,475,038 (GRCm39)	Y352H	probably benign	Het
D630003M21Rik	A	G	2: 158,058,623 (GRCm39)	S426P	probably damaging	Het
Dennd10	T	A	19: 60,823,309 (GRCm39)	F315I	probably benign	Het
Dido1	G	T	2: 180,329,443 (GRCm39)	N326K	probably benign	Het
E2f2	T	A	4: 135,911,760 (GRCm39)	I257N	probably damaging	Het
Elfn1	T	G	5: 139,959,413 (GRCm39)	F806V	probably damaging	Het
Eml6	T	A	11: 29,783,204 (GRCm39)	Y559F	probably damaging	Het
Erich6	A	G	3: 58,543,480 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,617 (GRCm39)	N101S	probably damaging	Het
Fam83h	A	G	15: 75,874,185 (GRCm39)	S1051P	probably benign	Het
Galns	C	T	8: 123,330,195 (GRCm39)	G112D	probably damaging	Het
Gm9923	A	G	10: 72,145,524 (GRCm39)	K125R	probably damaging	Het
Hectd3	G	A	4: 116,854,415 (GRCm39)	V326M	probably damaging	Het
Iars2	A	G	1: 185,048,248 (GRCm39)	S495P	possibly damaging	Het
Ice1	T	C	13: 70,754,503 (GRCm39)	R528G	probably damaging	Het
Igkv12-38	T	A	6: 69,920,368 (GRCm39)	Y50F	possibly damaging	Het
Inpp5j	T	C	11: 3,445,025 (GRCm39)	S883G	probably damaging	Het
Irf8	T	C	8: 121,480,178 (GRCm39)	S139P	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Kcnq4	G	T	4: 120,570,271 (GRCm39)	D357E	possibly damaging	Het
Krt7	A	G	15: 101,318,439 (GRCm39)	I309V	probably benign	Het
Krt76	G	T	15: 101,797,516 (GRCm39)	A281D	probably damaging	Het
Lancl2	T	C	6: 57,714,697 (GRCm39)	F430L	probably damaging	Het
Llgl2	T	C	11: 115,739,125 (GRCm39)	V332A	probably damaging	Het
Lrrc26	A	T	2: 25,180,076 (GRCm39)	T26S	probably benign	Het
Lrrk1	T	A	7: 65,912,041 (GRCm39)	M1840L	probably benign	Het
Lyst	G	A	13: 13,812,486 (GRCm39)	C966Y	probably damaging	Het
Mad1l1	T	A	5: 140,247,266 (GRCm39)	S354C	possibly damaging	Het
Mbtps1	C	T	8: 120,252,159 (GRCm39)	G577D	probably damaging	Het
Mycbp2	C	T	14: 103,426,027 (GRCm39)	R2366H	probably damaging	Het
Myo18a	T	G	11: 77,668,511 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,639 (GRCm39)	R866C	possibly damaging	Het
Nav2	T	A	7: 49,102,567 (GRCm39)	V455E	probably benign	Het
Neb	A	G	2: 52,153,674 (GRCm39)	I2417T	possibly damaging	Het
Nme5	C	T	18: 34,702,890 (GRCm39)	A133T	probably benign	Het
Nradd	T	C	9: 110,450,979 (GRCm39)	D51G	possibly damaging	Het
Pard3b	A	G	1: 62,250,843 (GRCm39)	R591G	probably damaging	Het
Pcbp4	T	C	9: 106,337,929 (GRCm39)	F73S	probably damaging	Het
Pcdhb11	C	T	18: 37,555,419 (GRCm39)	Q250*	probably null	Het
Pde1c	T	A	6: 56,049,194 (GRCm39)	K766N	probably damaging	Het
Phf21b	G	A	15: 84,738,942 (GRCm39)	Q40*	probably null	Het
Prr14	A	G	7: 127,073,868 (GRCm39)	D244G	probably benign	Het
Rab11fip5	C	T	6: 85,351,249 (GRCm39)	A88T	probably damaging	Het
Rad54l2	A	T	9: 106,593,317 (GRCm39)	S428T	probably benign	Het
Rdh9	A	G	10: 127,612,621 (GRCm39)	I90V	probably benign	Het
Rhag	G	T	17: 41,139,292 (GRCm39)	G76C	probably damaging	Het
Riok3	T	A	18: 12,261,984 (GRCm39)	V6E	possibly damaging	Het
Rnf7l	A	T	10: 63,257,244 (GRCm39)	V92E	probably damaging	Het
Scn10a	A	G	9: 119,500,592 (GRCm39)	I229T	probably damaging	Het
Slco1a1	G	T	6: 141,854,695 (GRCm39)	T652K	probably benign	Het
Slit1	T	A	19: 41,635,459 (GRCm39)	I345F	probably damaging	Het
Snrnp200	A	T	2: 127,074,857 (GRCm39)	I1477F	probably damaging	Het
Snx31	G	A	15: 36,523,698 (GRCm39)	T328I	possibly damaging	Het
Strn	A	G	17: 78,965,390 (GRCm39)	F634S	probably damaging	Het
Tmem101	C	T	11: 102,047,155 (GRCm39)	G6R	probably benign	Het
Tmem199	C	G	11: 78,399,506 (GRCm39)	G131R	probably benign	Het
Trim66	A	G	7: 109,055,267 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,681,929 (GRCm39)		probably benign	Het
Upk3bl	T	C	5: 136,086,247 (GRCm39)	L61P	probably benign	Het
Vmn2r108	A	G	17: 20,692,632 (GRCm39)	Y75H	probably damaging	Het
Vmn2r91	T	A	17: 18,327,906 (GRCm39)	I500K	probably damaging	Het
Vps18	C	T	2: 119,124,272 (GRCm39)	R400C	probably damaging	Het
Zeb1	C	T	18: 5,767,286 (GRCm39)	P599L	probably damaging	Het
Zfhx4	G	T	3: 5,464,557 (GRCm39)	A1572S	probably damaging	Het
Zfp677	T	A	17: 21,617,680 (GRCm39)	C246S	possibly damaging	Het
Zfp719	T	A	7: 43,239,834 (GRCm39)	I474N	probably damaging	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
R4536:Klhl1	UTSW	14	96,374,019 (GRCm39)	critical splice donor site	probably null
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'- CGCATTGCCATAGAAGTGCAC -3'
(R):5'- CAAGATTTCTGCTGTCTTGGATAC -3'

Sequencing Primer
(F):5'- TGCACAAAATTACCTGTGGTGG -3'
(R):5'- TTCTGAAGGATGAGTCTCAAGG -3'

Posted On

2015-11-11