Mutagenetix > Incidental Mutation

Incidental Mutation 'R3925:Klhl1'

308255

Institutional Source

Beutler Lab

Gene Symbol

Klhl1

Ensembl Gene

ENSMUSG00000022076

Gene Name

kelch-like 1

Synonyms

MMRRC Submission

040916-MU

Accession Numbers

Essential gene?

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

Stock #

R3925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96342695-96756525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96584316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 305 (C305S)

Ref Sequence

ENSEMBL: ENSMUSP00000022666 (fasta)

Gene Model

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

AlphaFold

Q9JI74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022666
AA Change: C305S

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: C305S

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

0.3379

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (30/31)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,726,891 (GRCm39)	T487I	possibly damaging	Het
Amn	T	C	12: 111,242,114 (GRCm39)	V367A	possibly damaging	Het
Becn2	T	C	1: 175,748,852 (GRCm39)	V306A	probably benign	Het
C230029F24Rik	AGAAAG	A	1: 49,350,088 (GRCm39)		noncoding transcript	Het
Cdkl1	G	T	12: 69,803,373 (GRCm39)	R168S	probably damaging	Het
Cfap43	T	C	19: 47,785,555 (GRCm39)	K445R	probably benign	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Eif4e	G	A	3: 138,261,198 (GRCm39)	G164D	probably damaging	Het
Eno1	T	C	4: 150,324,025 (GRCm39)		probably null	Het
Hmcn2	G	A	2: 31,343,169 (GRCm39)	R4565Q	probably benign	Het
Itgal	A	T	7: 126,923,709 (GRCm39)		probably benign	Het
Ms4a2	A	G	19: 11,596,312 (GRCm39)	M139T	probably benign	Het
Nr2e3	C	T	9: 59,855,716 (GRCm39)	R213H	probably damaging	Het
Onecut2	A	G	18: 64,474,591 (GRCm39)	K381E	probably damaging	Het
Or2t43	T	A	11: 58,457,652 (GRCm39)	H173L	probably benign	Het
Or52n1	T	A	7: 104,383,396 (GRCm39)	E58D	probably benign	Het
Or5t17	A	G	2: 86,832,718 (GRCm39)	Y135C	possibly damaging	Het
Pabpc1l	T	A	2: 163,869,596 (GRCm39)		probably benign	Het
Prim2	A	G	1: 33,572,380 (GRCm39)	L253P	probably damaging	Het
Pycr1	T	C	11: 120,532,961 (GRCm39)	T100A	probably benign	Het
Qrfpr	T	C	3: 36,276,072 (GRCm39)	N106S	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Selenoi	T	A	5: 30,461,086 (GRCm39)	D107E	probably damaging	Het
Synrg	C	T	11: 83,931,725 (GRCm39)	P1321S	probably benign	Het
Trgv7	A	G	13: 19,362,644 (GRCm39)	Y111C	probably damaging	Het
Trp53rkb	A	G	2: 166,637,392 (GRCm39)	Y116C	probably damaging	Het
Usp34	T	A	11: 23,293,640 (GRCm39)	F245I	probably benign	Het
Utrn	C	T	10: 12,573,786 (GRCm39)	V1095I	probably benign	Het
Xpnpep1	T	C	19: 52,980,128 (GRCm39)	H632R	probably damaging	Het
Zfp735	T	C	11: 73,601,950 (GRCm39)	I298T	probably benign	Het
Zfp953	T	A	13: 67,496,002 (GRCm39)	Y13F	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
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'- AAAACAGCTCCTGTCTCATTTG -3'
(R):5'- ATCTTCCCAGTAGTTGACAGCC -3'

Sequencing Primer
(F):5'- ACCATGGTGTAGCTGTGT -3'
(R):5'- TCAGGGCAGTCTAACATTCCAAGTG -3'

Posted On

2015-04-17