Mutagenetix > Incidental Mutation

Incidental Mutation 'R9147:Klhl24'

694745

Institutional Source

Beutler Lab

Gene Symbol

Klhl24

Ensembl Gene

ENSMUSG00000062901

Gene Name

kelch-like 24

Synonyms

4930429H24Rik, 1110046J11Rik, 6530402O20Rik

MMRRC Submission

068936-MU

Accession Numbers

Essential gene?

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

Stock #

R9147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19916292-19947971 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19936690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 433 (R433C)

Ref Sequence

ENSEMBL: ENSMUSP00000023509 (fasta)

Gene Model

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

AlphaFold

Q8BRG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023509
AA Change: R433C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: R433C

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (93/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,345 (GRCm39)	I102N	probably damaging	Het
2610008E11Rik	A	T	10: 78,903,406 (GRCm39)	C303*	probably null	Het
A430033K04Rik	T	A	5: 138,644,547 (GRCm39)	V144D	possibly damaging	Het
Adamts13	T	A	2: 26,883,024 (GRCm39)	M858K	probably benign	Het
Ankrd29	T	C	18: 12,408,760 (GRCm39)		probably benign	Het
Apc	T	A	18: 34,450,710 (GRCm39)	S2535R	probably damaging	Het
C1s1	T	C	6: 124,517,758 (GRCm39)	D74G	probably damaging	Het
Cacnb2	G	A	2: 14,972,773 (GRCm39)	G227S	possibly damaging	Het
Cbs	T	C	17: 31,844,889 (GRCm39)	D137G	probably damaging	Het
Ccdc136	A	G	6: 29,418,070 (GRCm39)	E846G	probably damaging	Het
Cd6	A	T	19: 10,776,855 (GRCm39)	S57T	probably benign	Het
Col11a2	T	A	17: 34,273,119 (GRCm39)		probably benign	Het
Ctsj	T	C	13: 61,149,249 (GRCm39)	Y264C	probably damaging	Het
Dennd3	T	A	15: 73,429,463 (GRCm39)	N915K	probably damaging	Het
Dst	T	C	1: 34,228,149 (GRCm39)	L1914P	probably damaging	Het
E2f2	A	T	4: 135,908,595 (GRCm39)		probably null	Het
Edc4	T	C	8: 106,612,478 (GRCm39)	L172P	probably damaging	Het
Epb41l5	A	T	1: 119,570,319 (GRCm39)	L23H	probably damaging	Het
Fbxo2	A	G	4: 148,250,166 (GRCm39)	E232G	probably damaging	Het
Fmn1	A	C	2: 113,271,973 (GRCm39)	N114H	unknown	Het
Foxj1	T	G	11: 116,225,236 (GRCm39)	I44L	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Foxp2	A	T	6: 15,286,711 (GRCm39)	Q67L	possibly damaging	Het
Fuz	C	T	7: 44,549,710 (GRCm39)	P396L	probably damaging	Het
Galntl5	A	T	5: 25,415,353 (GRCm39)	I295L	possibly damaging	Het
Gjd4	T	A	18: 9,280,095 (GRCm39)	T328S	probably benign	Het
Gramd1a	A	T	7: 30,837,606 (GRCm39)		probably benign	Het
Gzmb	T	C	14: 56,496,964 (GRCm39)	Y219C	possibly damaging	Het
Hs3st5	A	T	10: 36,708,917 (GRCm39)	I151F	probably damaging	Het
Hspa12a	T	G	19: 58,793,890 (GRCm39)	T324P	probably damaging	Het
Ighv4-1	A	T	12: 113,912,000 (GRCm39)	D84E	possibly damaging	Het
Il31ra	C	T	13: 112,670,276 (GRCm39)	E371K	probably benign	Het
Imp4	G	T	1: 34,482,473 (GRCm39)	V71L	probably benign	Het
Itgax	A	G	7: 127,747,913 (GRCm39)	T1068A	possibly damaging	Het
Larp4b	C	A	13: 9,186,819 (GRCm39)	P49Q	possibly damaging	Het
Macc1	T	C	12: 119,414,091 (GRCm39)	S756P	possibly damaging	Het
Mael	A	G	1: 166,029,259 (GRCm39)	V388A	probably benign	Het
Megf6	A	G	4: 154,339,130 (GRCm39)	T556A	probably benign	Het
Mettl6	T	C	14: 31,204,855 (GRCm39)	D189G	probably damaging	Het
Moxd2	C	A	6: 40,860,978 (GRCm39)	C271F	probably damaging	Het
Ncor1	A	T	11: 62,224,672 (GRCm39)	Y863N	probably damaging	Het
Ndst4	C	T	3: 125,231,722 (GRCm39)	A97V	probably damaging	Het
Nherf4	A	G	9: 44,160,676 (GRCm39)	C240R	probably damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	A	G	2: 90,533,489 (GRCm39)	D646G	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1j19	A	G	2: 36,676,938 (GRCm39)	T134A	probably benign	Het
Or1p1	A	C	11: 74,180,169 (GRCm39)	Q232H	probably damaging	Het
Or5c1	T	C	2: 37,222,017 (GRCm39)	L86P	possibly damaging	Het
Or7h8	T	A	9: 20,124,358 (GRCm39)	F238I	probably damaging	Het
Or8k24	A	G	2: 86,216,324 (GRCm39)	V146A	probably benign	Het
Pabpc6	C	T	17: 9,886,937 (GRCm39)	S538N	probably benign	Het
Pcdhga1	C	A	18: 37,796,433 (GRCm39)	A479D	possibly damaging	Het
Pdgfd	A	T	9: 6,333,328 (GRCm39)	D172V	probably benign	Het
Pfpl	A	T	19: 12,405,804 (GRCm39)	E18D	possibly damaging	Het
Pih1d2	T	A	9: 50,532,321 (GRCm39)	D126E	possibly damaging	Het
Ppp1r13b	T	C	12: 111,800,268 (GRCm39)	H626R	probably benign	Het
Ppp6r3	A	T	19: 3,543,974 (GRCm39)	V347D	probably damaging	Het
Ptpra	T	A	2: 30,328,255 (GRCm39)	M192K	probably damaging	Het
Ptpra	G	T	2: 30,328,256 (GRCm39)	M192I	probably benign	Het
Ptprj	G	A	2: 90,288,562 (GRCm39)	S801L	probably benign	Het
Rasd2	C	T	8: 75,948,847 (GRCm39)	R258*	probably null	Het
Rfx3	A	T	19: 27,878,207 (GRCm39)	V30E	possibly damaging	Het
Rgs2	A	G	1: 143,877,925 (GRCm39)	S124P	probably damaging	Het
Ros1	A	G	10: 51,927,039 (GRCm39)	F2215L	probably benign	Het
Rph3a	T	C	5: 121,086,880 (GRCm39)	N440S	possibly damaging	Het
Sacs	T	C	14: 61,450,137 (GRCm39)	V4061A	possibly damaging	Het
Scgb1b3	G	A	7: 31,075,051 (GRCm39)	V7M	unknown	Het
Scn7a	T	C	2: 66,514,507 (GRCm39)	D1089G	possibly damaging	Het
Sdk2	C	T	11: 113,714,226 (GRCm39)	R1582Q	probably benign	Het
Sdr16c5	T	C	4: 3,996,200 (GRCm39)	M298V	probably benign	Het
Sebox	A	G	11: 78,395,222 (GRCm39)	D188G	possibly damaging	Het
Serpinf2	A	T	11: 75,323,418 (GRCm39)	F429L	probably damaging	Het
Six4	A	C	12: 73,155,681 (GRCm39)	S429A	probably benign	Het
Slc2a10	A	T	2: 165,357,543 (GRCm39)	H401L	possibly damaging	Het
Ssbp2	T	C	13: 91,842,141 (GRCm39)	S321P	probably damaging	Het
Syne2	A	G	12: 75,937,158 (GRCm39)	E252G	probably damaging	Het
Synj2	T	C	17: 6,084,172 (GRCm39)	I1178T	probably damaging	Het
Tafa5	T	C	15: 87,428,775 (GRCm39)	I28T	probably benign	Het
Tbc1d10a	G	T	11: 4,136,835 (GRCm39)	R16L	unknown	Het
Tmem132b	C	A	5: 125,864,167 (GRCm39)	Q758K	probably damaging	Het
Tnrc6a	T	G	7: 122,785,667 (GRCm39)		probably benign	Het
Tril	A	G	6: 53,795,137 (GRCm39)	L695P	probably damaging	Het
Tspan3	A	T	9: 56,043,960 (GRCm39)	Y243*	probably null	Het
Ufl1	A	T	4: 25,278,712 (GRCm39)		probably benign	Het
Utp4	A	T	8: 107,621,310 (GRCm39)	N29I	possibly damaging	Het
Vmn1r176	C	T	7: 23,534,785 (GRCm39)	G123S	probably benign	Het
Vmn1r225	T	A	17: 20,722,577 (GRCm39)	M6K	possibly damaging	Het
Vmn1r229	T	C	17: 21,034,758 (GRCm39)	M1T	probably null	Het
Vmn2r80	A	T	10: 79,030,687 (GRCm39)	I838F	probably damaging	Het
Vmn2r98	T	A	17: 19,286,383 (GRCm39)	W294R	probably benign	Het
Wnk1	A	G	6: 119,925,631 (GRCm39)	S1527P	unknown	Het
Zdhhc17	A	T	10: 110,785,503 (GRCm39)	S436R	possibly damaging	Het
Zfp12	T	C	5: 143,230,389 (GRCm39)	S271P	probably damaging	Het
Zfp330	T	C	8: 83,491,063 (GRCm39)	Y249C		Het
Zfp444	A	G	7: 6,192,678 (GRCm39)	H232R	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AGTTATAGCCGTCAAGTCCTTG -3'
(R):5'- AGATCCCTCACATTTAGTATCCTAGC -3'

Sequencing Primer
(F):5'- CAAGTCCTTGAATGAGAGAGATTCTC -3'
(R):5'- TATCTATTCAAGAGACCACCTGTC -3'

Posted On

2022-01-20