Mutagenetix > Incidental Mutation

Incidental Mutation 'R9471:Klhl24'

715494

Institutional Source

Beutler Lab

Gene Symbol

Klhl24

Ensembl Gene

ENSMUSG00000062901

Gene Name

kelch-like 24

Synonyms

4930429H24Rik, 1110046J11Rik, 6530402O20Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9471 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19916292-19947971 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19941735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 561 (T561I)

Ref Sequence

ENSEMBL: ENSMUSP00000023509 (fasta)

Gene Model

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

AlphaFold

Q8BRG6

Predicted Effect

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: T561I

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,565,319 (GRCm39)	K368E	probably damaging	Het
Adgrl2	T	C	3: 148,558,365 (GRCm39)	T448A	probably benign	Het
Aff4	C	T	11: 53,271,473 (GRCm39)	P337S	probably benign	Het
Alg12	G	A	15: 88,690,621 (GRCm39)	Q406*	probably null	Het
Anapc5	T	C	5: 122,944,308 (GRCm39)	Y302C	probably damaging	Het
Apol7a	A	G	15: 77,273,680 (GRCm39)	S261P	possibly damaging	Het
Atad5	G	T	11: 80,023,524 (GRCm39)	K1545N	possibly damaging	Het
Atp6v1f	T	A	6: 29,467,941 (GRCm39)	D42E	probably benign	Het
Bcl6	T	A	16: 23,791,857 (GRCm39)	N166Y	probably benign	Het
Btbd7	C	T	12: 102,760,145 (GRCm39)	R601Q	probably damaging	Het
Casp1	A	G	9: 5,304,187 (GRCm39)	E287G	probably benign	Het
Cd300c	A	T	11: 114,847,216 (GRCm39)	V193E	probably damaging	Het
Cd300lg	T	A	11: 101,944,920 (GRCm39)	S377T	probably benign	Het
Ceacam13	T	A	7: 17,753,012 (GRCm39)	*264R	probably null	Het
Clasrp	G	A	7: 19,319,172 (GRCm39)	R498*	probably null	Het
Clec4n	T	A	6: 123,221,505 (GRCm39)	N146K	probably benign	Het
Cntln	T	A	4: 84,968,019 (GRCm39)	V746E	possibly damaging	Het
Defa29	T	C	8: 21,816,901 (GRCm39)	T31A	possibly damaging	Het
Egr4	A	G	6: 85,489,695 (GRCm39)	S122P	possibly damaging	Het
Fam221a	T	G	6: 49,349,520 (GRCm39)	D28E	probably damaging	Het
Fanca	G	A	8: 124,000,897 (GRCm39)	T1161I	possibly damaging	Het
Fcsk	T	C	8: 111,610,041 (GRCm39)	E991G	probably benign	Het
Frat2	A	G	19: 41,836,113 (GRCm39)	S80P	probably benign	Het
Gse1	C	A	8: 121,301,845 (GRCm39)	S985R	unknown	Het
H2-M3	T	A	17: 37,581,988 (GRCm39)	I148N	probably damaging	Het
Hs6st3	G	T	14: 119,376,235 (GRCm39)	V137L	probably damaging	Het
Ighv1-42	T	A	12: 114,900,927 (GRCm39)	M53L	probably benign	Het
Klhl26	C	G	8: 70,904,803 (GRCm39)	G369A	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lrrd1	A	T	5: 3,913,980 (GRCm39)	D750V		Het
Mc5r	A	G	18: 68,472,127 (GRCm39)	D162G	probably damaging	Het
Mrc2	T	A	11: 105,234,559 (GRCm39)	S1026R	probably benign	Het
Nf1	A	G	11: 79,436,195 (GRCm39)	H1945R	probably damaging	Het
Nr4a2	A	G	2: 57,002,114 (GRCm39)	M113T	probably benign	Het
Obox2	G	A	7: 15,131,113 (GRCm39)	G73D	probably damaging	Het
Or1af1	G	A	2: 37,110,400 (GRCm39)	A300T	probably damaging	Het
Or2t48	A	T	11: 58,420,355 (GRCm39)	C152*	probably null	Het
Pappa2	C	T	1: 158,642,029 (GRCm39)	M1342I	probably benign	Het
Pla2g6	A	T	15: 79,202,039 (GRCm39)	L44Q	probably damaging	Het
Pnpla1	A	T	17: 29,099,973 (GRCm39)	Q280L	probably benign	Het
Pramel23	T	A	4: 143,423,749 (GRCm39)	T347S	probably damaging	Het
Prdm1	C	T	10: 44,326,174 (GRCm39)	G117S	probably damaging	Het
Prss36	A	T	7: 127,545,605 (GRCm39)	F6I	probably benign	Het
Sat2	A	G	11: 69,513,725 (GRCm39)	Y81C	probably damaging	Het
Sbspon	T	C	1: 15,962,677 (GRCm39)	D67G	probably benign	Het
Shank2	G	A	7: 143,964,752 (GRCm39)	V787M	possibly damaging	Het
Stoml1	A	T	9: 58,163,968 (GRCm39)	I96F	probably damaging	Het
Tet2	C	T	3: 133,191,680 (GRCm39)	G918D	probably damaging	Het
Tgm4	A	G	9: 122,869,444 (GRCm39)	I8V	probably benign	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Ttn	C	T	2: 76,598,846 (GRCm39)	V19356M	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r67	A	C	7: 84,799,723 (GRCm39)		probably null	Het
Wdr90	C	A	17: 26,080,015 (GRCm39)	V107L	possibly damaging	Het
Zfp316	T	C	5: 143,241,161 (GRCm39)	D286G	unknown	Het
Zfp981	C	A	4: 146,622,080 (GRCm39)	P335Q	probably benign	Het
Zscan18	T	C	7: 12,508,343 (GRCm39)	T386A	possibly damaging	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
IGL02504:Klhl24	APN	16	19,934,693 (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
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

Predicted Primers

PCR Primer
(F):5'- GGCAAAAGGGATATTATGTCTCCC -3'
(R):5'- AGTTGAGTTCTCACGTGGTC -3'

Sequencing Primer
(F):5'- TGTTAATGCATGTTGATGC -3'
(R):5'- CGTGGTCGTTTTAAAAACTTTCC -3'

Posted On

2022-06-15