Mutagenetix > Incidental Mutation

Incidental Mutation 'R6734:Klhl24'

528362

Institutional Source

Beutler Lab

Gene Symbol

Klhl24

Ensembl Gene

ENSMUSG00000062901

Gene Name

kelch-like 24

Synonyms

4930429H24Rik, 1110046J11Rik, 6530402O20Rik

MMRRC Submission

044852-MU

Accession Numbers

Essential gene?

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

Stock #

R6734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19916292-19947971 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19926279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 269 (V269A)

Ref Sequence

ENSEMBL: ENSMUSP00000023509 (fasta)

Gene Model

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

AlphaFold

Q8BRG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023509
AA Change: V269A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: V269A

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 benign
Transcript: ENSMUST00000232088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232494

Meta Mutation Damage Score

0.2679

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (52/52)

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
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Ano6	A	G	15: 95,847,417 (GRCm39)	K554R	probably damaging	Het
Arhgef10	A	T	8: 15,025,053 (GRCm39)	I703F	probably damaging	Het
Bbs1	T	C	19: 4,953,924 (GRCm39)	S80G	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Camk1	C	A	6: 113,311,345 (GRCm39)	R352L	probably benign	Het
Cand1	G	A	10: 119,047,897 (GRCm39)	P531L	possibly damaging	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Col24a1	C	A	3: 145,214,429 (GRCm39)	P1384Q	probably benign	Het
Csmd2	C	A	4: 128,357,606 (GRCm39)	T1689K	probably benign	Het
Cyp26a1	T	A	19: 37,689,660 (GRCm39)	L452H	probably damaging	Het
Dcpp2	T	C	17: 24,119,545 (GRCm39)	Y120H	probably damaging	Het
Dennd6a	G	T	14: 26,329,774 (GRCm39)	R115L	possibly damaging	Het
Eml2	T	A	7: 18,934,432 (GRCm39)	V377E	probably benign	Het
Fam135b	T	C	15: 71,334,629 (GRCm39)	E855G	probably benign	Het
Fam149a	A	T	8: 45,834,478 (GRCm39)	I107K	probably benign	Het
Fam227b	A	T	2: 125,968,896 (GRCm39)	Y59*	probably null	Het
Fbn2	T	C	18: 58,169,032 (GRCm39)	E2249G	probably damaging	Het
Flrt1	T	C	19: 7,073,524 (GRCm39)	D341G	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gsdma2	A	G	11: 98,540,416 (GRCm39)	T112A	possibly damaging	Het
Lcorl	A	G	5: 45,890,839 (GRCm39)	S505P	probably damaging	Het
Liph	A	G	16: 21,802,707 (GRCm39)	S121P	probably damaging	Het
Lrp4	G	A	2: 91,316,242 (GRCm39)	V787M	possibly damaging	Het
Lrrd1	A	C	5: 3,900,226 (GRCm39)	D177A	possibly damaging	Het
Mbd1	G	A	18: 74,409,114 (GRCm39)	R399H	probably damaging	Het
Naa25	C	T	5: 121,576,888 (GRCm39)	T879M	possibly damaging	Het
Naa35	T	G	13: 59,756,005 (GRCm39)	L147R	possibly damaging	Het
Ninl	C	A	2: 150,787,003 (GRCm39)		probably null	Het
Nrap	T	C	19: 56,333,941 (GRCm39)	D972G	probably damaging	Het
Or9k7	A	G	10: 130,046,126 (GRCm39)	F291S	probably benign	Het
Pdzd2	T	C	15: 12,592,551 (GRCm39)	E31G	probably damaging	Het
Plec	C	T	15: 76,078,603 (GRCm39)	E41K	probably damaging	Het
Plxnb1	A	T	9: 108,937,988 (GRCm39)	K1245*	probably null	Het
Ppfia1	T	C	7: 144,032,790 (GRCm39)	T1263A	probably damaging	Het
Prex2	G	A	1: 11,150,283 (GRCm39)	V152I	probably damaging	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prss3l	T	C	6: 41,422,321 (GRCm39)	Y28C	probably damaging	Het
Prune2	T	G	19: 16,981,097 (GRCm39)	F85V	probably damaging	Het
Rrp1b	T	G	17: 32,274,278 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,864,609 (GRCm39)	T158A	probably benign	Het
Sema6a	G	A	18: 47,412,236 (GRCm39)	T526I	probably benign	Het
Shank1	G	T	7: 44,003,110 (GRCm39)	A1610S	probably benign	Het
Slc24a4	T	C	12: 102,185,259 (GRCm39)	V123A	probably damaging	Het
Stk11ip	T	C	1: 75,509,013 (GRCm39)	V714A	probably benign	Het
Tas1r3	T	C	4: 155,945,257 (GRCm39)	T655A	probably damaging	Het
Tns2	G	T	15: 102,011,551 (GRCm39)	L10F	probably damaging	Het
Trmt10c	A	G	16: 55,854,489 (GRCm39)	V382A	probably benign	Het
Unc45a	G	C	7: 79,986,746 (GRCm39)	T149R	probably damaging	Het
Zhx3	T	G	2: 160,623,640 (GRCm39)	I176L	probably damaging	Het
Zscan12	T	A	13: 21,552,966 (GRCm39)	C263*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGCATGAAGAATTTCTCGAGCTTG -3'
(R):5'- ACACTGAGACTGAGTTCACG -3'

Sequencing Primer
(F):5'- TCTCGAGCTTGACAAAGATGAAC -3'
(R):5'- GTAAAGCACCTTCTCACC -3'

Posted On

2018-07-24