Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Klhl24'

296229

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl24

Ensembl Gene

ENSMUSG00000062901

Gene Name

kelch-like 24

Synonyms

4930429H24Rik, 1110046J11Rik, 6530402O20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02504

Quality Score

Status

Chromosome

Chromosomal Location

19916292-19947971 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 19934693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 389 (R389*)

Ref Sequence

ENSEMBL: ENSMUSP00000023509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023509]

AlphaFold

Q8BRG6

Predicted Effect

probably null
Transcript: ENSMUST00000023509
AA Change: R389*

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: R389*

Domain	Start	End	E-Value	Type
BTB	66	163	3.49e-29	SMART
BACK	168	270	1.53e-38	SMART
Kelch	314	363	8.21e-2	SMART
Kelch	364	407	6.04e-3	SMART
Kelch	408	454	5.71e-13	SMART
Kelch	455	502	1.51e-3	SMART
Kelch	503	544	9.19e-1	SMART
Kelch	545	592	2.43e-7	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 protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,411,232 (GRCm39)	N142I	probably benign	Het
Asf1b	A	G	8: 84,682,458 (GRCm39)	M1V	probably null	Het
Astn1	T	C	1: 158,329,978 (GRCm39)	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,428,384 (GRCm39)	L692Q	probably damaging	Het
Cd207	T	A	6: 83,654,788 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,447,779 (GRCm39)	N548K	probably damaging	Het
Col7a1	G	A	9: 108,809,743 (GRCm39)	G2659D	unknown	Het
Cpa6	A	T	1: 10,559,144 (GRCm39)	Y75N	probably benign	Het
Cspg4	G	T	9: 56,793,056 (GRCm39)	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,930,141 (GRCm39)	I155L	probably benign	Het
Dock6	A	G	9: 21,757,951 (GRCm39)	I51T	probably benign	Het
Dse	G	T	10: 34,028,796 (GRCm39)	Q765K	probably benign	Het
Fam219b	A	T	9: 57,445,351 (GRCm39)	M87L	probably benign	Het
Fat3	G	A	9: 15,871,094 (GRCm39)	R3766C	probably damaging	Het
Fcnb	A	C	2: 27,966,606 (GRCm39)	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,598,887 (GRCm39)	N670K	probably damaging	Het
Fsip2	T	A	2: 82,809,199 (GRCm39)	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,056,939 (GRCm39)	H195R	probably damaging	Het
Gm14179	A	T	11: 99,634,003 (GRCm39)			Het
Grm5	A	G	7: 87,779,980 (GRCm39)	N1172S	probably benign	Het
Hsd17b14	A	G	7: 45,205,799 (GRCm39)	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,149,131 (GRCm39)	E12D	probably benign	Het
Kdm2a	T	C	19: 4,406,799 (GRCm39)	N155D	possibly damaging	Het
Kmt2b	A	G	7: 30,285,968 (GRCm39)		probably benign	Het
Krt4	T	A	15: 101,827,727 (GRCm39)	I469F	unknown	Het
Mto1	A	T	9: 78,368,209 (GRCm39)	D451V	probably damaging	Het
Muc5b	A	T	7: 141,400,177 (GRCm39)	D477V	unknown	Het
Pcsk5	A	G	19: 17,455,236 (GRCm39)		probably null	Het
Ppil4	T	A	10: 7,696,748 (GRCm39)	Y420*	probably null	Het
Ppp2r5d	A	T	17: 47,011,019 (GRCm39)	D27E	probably benign	Het
Prkd2	T	C	7: 16,591,757 (GRCm39)	L596P	probably damaging	Het
Prr30	T	C	14: 101,436,056 (GRCm39)	I169V	probably benign	Het
Rtl9	A	T	X: 141,885,287 (GRCm39)	T900S	probably benign	Het
Sash1	A	G	10: 8,605,676 (GRCm39)	S905P	probably benign	Het
Scn2a	G	A	2: 65,514,228 (GRCm39)	G304D	probably benign	Het
Scp2d1	T	C	2: 144,665,877 (GRCm39)	L72P	probably damaging	Het
Septin2	T	A	1: 93,428,203 (GRCm39)	H166Q	probably benign	Het
Sgcb	A	G	5: 73,801,718 (GRCm39)	I49T	probably damaging	Het
Smyd4	T	A	11: 75,281,507 (GRCm39)	W327R	probably damaging	Het
Sptbn1	C	T	11: 30,092,293 (GRCm39)	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,656,213 (GRCm39)	H254Q	probably benign	Het
Tll1	A	C	8: 64,523,271 (GRCm39)	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trio	A	T	15: 27,847,476 (GRCm39)	C929*	probably null	Het
Ttn	C	T	2: 76,628,494 (GRCm39)	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,149,400 (GRCm39)	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031 (GRCm39)	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,242,254 (GRCm39)	I82T	probably benign	Het
Usp21	A	G	1: 171,112,596 (GRCm39)	I266T	probably benign	Het
Veph1	A	T	3: 66,079,551 (GRCm39)	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,284,655 (GRCm39)	Y125S	probably benign	Het

Other mutations in Klhl24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Klhl24	APN	16	19,941,717 (GRCm39)	missense	possibly damaging	0.78
IGL02419:Klhl24	APN	16	19,926,118 (GRCm39)	nonsense	probably null
IGL02799:Klhl24	UTSW	16	19,933,331 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Klhl24	UTSW	16	19,925,638 (GRCm39)	missense	probably benign
R1512:Klhl24	UTSW	16	19,941,686 (GRCm39)	missense	probably damaging	1.00
R1658:Klhl24	UTSW	16	19,925,842 (GRCm39)	nonsense	probably null
R2076:Klhl24	UTSW	16	19,936,628 (GRCm39)	missense	probably damaging	0.98
R2504:Klhl24	UTSW	16	19,938,917 (GRCm39)	missense	probably benign	0.00
R4084:Klhl24	UTSW	16	19,933,312 (GRCm39)	missense	probably damaging	0.98
R4299:Klhl24	UTSW	16	19,925,754 (GRCm39)	missense	probably damaging	1.00
R4624:Klhl24	UTSW	16	19,938,873 (GRCm39)	missense	probably damaging	1.00
R4780:Klhl24	UTSW	16	19,925,708 (GRCm39)	missense	probably damaging	0.99
R5652:Klhl24	UTSW	16	19,938,997 (GRCm39)	nonsense	probably null
R5827:Klhl24	UTSW	16	19,938,871 (GRCm39)	nonsense	probably null
R6363:Klhl24	UTSW	16	19,938,933 (GRCm39)	missense	possibly damaging	0.52
R6734:Klhl24	UTSW	16	19,926,279 (GRCm39)	missense	probably damaging	1.00
R7069:Klhl24	UTSW	16	19,926,231 (GRCm39)	missense	probably benign	0.06
R7361:Klhl24	UTSW	16	19,936,750 (GRCm39)	missense	probably benign
R7482:Klhl24	UTSW	16	19,933,405 (GRCm39)	missense	possibly damaging	0.48
R7894:Klhl24	UTSW	16	19,941,750 (GRCm39)	missense	probably damaging	1.00
R8229:Klhl24	UTSW	16	19,933,321 (GRCm39)	missense	possibly damaging	0.93
R8843:Klhl24	UTSW	16	19,938,980 (GRCm39)	nonsense	probably null
R9147:Klhl24	UTSW	16	19,936,690 (GRCm39)	missense	probably damaging	1.00
R9148:Klhl24	UTSW	16	19,936,690 (GRCm39)	missense	probably damaging	1.00
R9471:Klhl24	UTSW	16	19,941,735 (GRCm39)	missense
R9478:Klhl24	UTSW	16	19,941,763 (GRCm39)	missense	possibly damaging	0.69
R9566:Klhl24	UTSW	16	19,934,669 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16