Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02419:Klhl24'

292571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl24

Ensembl Gene

ENSMUSG00000062901

Gene Name

kelch-like 24

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

20097542-20129221 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 20107368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 215 (Y215*)

Ref Sequence

ENSEMBL: ENSMUSP00000155913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023509] [ENSMUST00000231842] [ENSMUST00000232088]

AlphaFold

Q8BRG6

Predicted Effect

probably null
Transcript: ENSMUST00000023509
AA Change: Y215*

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: Y215*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231842

Predicted Effect

probably null
Transcript: ENSMUST00000232088
AA Change: Y215*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232494

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	probably damaging	Het

Other mutations in Klhl24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Klhl24	APN	16	20122967	missense	possibly damaging	0.78
IGL02504:Klhl24	APN	16	20115943	nonsense	probably null
IGL02799:Klhl24	UTSW	16	20114581	missense	probably damaging	1.00
PIT4585001:Klhl24	UTSW	16	20106888	missense	probably benign
R1512:Klhl24	UTSW	16	20122936	missense	probably damaging	1.00
R1658:Klhl24	UTSW	16	20107092	nonsense	probably null
R2076:Klhl24	UTSW	16	20117878	missense	probably damaging	0.98
R2504:Klhl24	UTSW	16	20120167	missense	probably benign	0.00
R4084:Klhl24	UTSW	16	20114562	missense	probably damaging	0.98
R4299:Klhl24	UTSW	16	20107004	missense	probably damaging	1.00
R4624:Klhl24	UTSW	16	20120123	missense	probably damaging	1.00
R4780:Klhl24	UTSW	16	20106958	missense	probably damaging	0.99
R5652:Klhl24	UTSW	16	20120247	nonsense	probably null
R5827:Klhl24	UTSW	16	20120121	nonsense	probably null
R6363:Klhl24	UTSW	16	20120183	missense	possibly damaging	0.52
R6734:Klhl24	UTSW	16	20107529	missense	probably damaging	1.00
R7069:Klhl24	UTSW	16	20107481	missense	probably benign	0.06
R7361:Klhl24	UTSW	16	20118000	missense	probably benign
R7482:Klhl24	UTSW	16	20114655	missense	possibly damaging	0.48
R7894:Klhl24	UTSW	16	20123000	missense	probably damaging	1.00
R8229:Klhl24	UTSW	16	20114571	missense	possibly damaging	0.93
R8843:Klhl24	UTSW	16	20120230	nonsense	probably null
R9147:Klhl24	UTSW	16	20117940	missense	probably damaging	1.00
R9148:Klhl24	UTSW	16	20117940	missense	probably damaging	1.00
R9471:Klhl24	UTSW	16	20122985	missense
R9478:Klhl24	UTSW	16	20123013	missense	possibly damaging	0.69
R9566:Klhl24	UTSW	16	20115919	missense	probably damaging	1.00

Posted On

2015-04-16