Mutagenetix > Incidental Mutation

Incidental Mutation 'R6363:Klhl24'

512608

Institutional Source

Beutler Lab

Gene Symbol

Klhl24

Ensembl Gene

ENSMUSG00000062901

Gene Name

kelch-like 24

Synonyms

4930429H24Rik, 1110046J11Rik, 6530402O20Rik

MMRRC Submission

044513-MU

Accession Numbers

Essential gene?

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

Stock #

R6363 (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 19938933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 496 (T496I)

Ref Sequence

ENSEMBL: ENSMUSP00000023509 (fasta)

Gene Model

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

AlphaFold

Q8BRG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023509
AA Change: T496I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: T496I

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

0.1388

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

98% (51/52)

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
Agbl4	A	G	4: 111,423,982 (GRCm39)		probably benign	Het
Antxrl	G	T	14: 33,791,244 (GRCm39)	C379F	probably damaging	Het
Camsap3	T	C	8: 3,651,971 (GRCm39)	C256R	probably damaging	Het
Ccdc33	T	C	9: 58,021,618 (GRCm39)	E254G	probably benign	Het
Ccndbp1	C	T	2: 120,843,454 (GRCm39)	P282L	probably damaging	Het
Col5a1	C	T	2: 27,818,207 (GRCm39)	T144I	unknown	Het
Csmd2	A	T	4: 128,294,172 (GRCm39)	H1167L	probably benign	Het
Ctsk	A	T	3: 95,408,862 (GRCm39)	T82S	probably damaging	Het
Cyp3a41b	A	T	5: 145,507,197 (GRCm39)	F248I	probably damaging	Het
Dchs1	A	G	7: 105,407,679 (GRCm39)	I2051T	probably benign	Het
Dnah17	A	G	11: 118,001,331 (GRCm39)	F871L	probably benign	Het
Eif2b4	A	G	5: 31,348,583 (GRCm39)	V210A	probably damaging	Het
Eral1	A	G	11: 77,965,143 (GRCm39)	I385T	probably damaging	Het
Ercc8	T	C	13: 108,320,404 (GRCm39)	L330P	probably damaging	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fcrl1	A	T	3: 87,292,475 (GRCm39)	I156F	probably damaging	Het
Gm7298	A	G	6: 121,765,565 (GRCm39)	Y1465C	probably damaging	Het
Gpr17	A	G	18: 32,080,625 (GRCm39)	L146P	probably damaging	Het
Gpr171	A	G	3: 59,005,313 (GRCm39)	I154T	possibly damaging	Het
Hid1	T	A	11: 115,243,422 (GRCm39)	Y542F	probably damaging	Het
Hspa8	T	C	9: 40,714,361 (GRCm39)	V219A	probably damaging	Het
Krtcap2	T	C	3: 89,156,413 (GRCm39)	S64P	probably damaging	Het
Msh3	C	A	13: 92,349,032 (GRCm39)	D1066Y	probably damaging	Het
Naaladl2	C	T	3: 24,389,481 (GRCm39)	G323R	possibly damaging	Het
Nbas	A	G	12: 13,532,577 (GRCm39)	T1762A	probably benign	Het
Nr4a1	C	T	15: 101,171,996 (GRCm39)	R557C	probably damaging	Het
Ogfrl1	T	A	1: 23,409,194 (GRCm39)	H344L	probably benign	Het
Or13a25	T	A	7: 140,247,995 (GRCm39)	F265Y	possibly damaging	Het
Or5a1	T	A	19: 12,097,530 (GRCm39)	H182L	possibly damaging	Het
Or5p55	A	G	7: 107,566,957 (GRCm39)	M118V	possibly damaging	Het
Or9k7	A	C	10: 130,046,906 (GRCm39)	V31G	possibly damaging	Het
Orm2	G	A	4: 63,280,841 (GRCm39)		probably null	Het
Patj	T	A	4: 98,320,097 (GRCm39)	S455T	probably benign	Het
Pdgfra	G	T	5: 75,331,497 (GRCm39)	V336L	possibly damaging	Het
Prkaa1	T	C	15: 5,206,437 (GRCm39)	L431S	probably damaging	Het
Ptgfrn	A	G	3: 100,952,894 (GRCm39)	V780A	possibly damaging	Het
Rb1	A	T	14: 73,525,081 (GRCm39)	V184E	probably benign	Het
Rev1	T	A	1: 38,110,570 (GRCm39)	H560L	probably damaging	Het
Serpinb13	A	T	1: 106,928,504 (GRCm39)	R375*	probably null	Het
Slc8a2	C	A	7: 15,867,970 (GRCm39)	D67E	probably benign	Het
Sos2	A	T	12: 69,678,885 (GRCm39)	N307K	probably benign	Het
Srgap2	G	A	1: 131,226,206 (GRCm39)	R36W	probably damaging	Het
Tas2r119	G	T	15: 32,178,034 (GRCm39)	W200L	possibly damaging	Het
Tep1	T	G	14: 51,062,005 (GRCm39)	K2575T	probably benign	Het
Ttc36	T	A	9: 44,710,936 (GRCm39)	R131S	probably damaging	Het
Ttyh3	A	T	5: 140,620,979 (GRCm39)	L195Q	probably damaging	Het
Uba7	G	A	9: 107,857,382 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,592,942 (GRCm39)	V2249G	probably damaging	Het
Wwc2	A	T	8: 48,340,197 (GRCm39)		probably null	Het
Zdhhc21	A	T	4: 82,765,911 (GRCm39)	V8D	probably damaging	Het
Zfp719	A	G	7: 43,239,290 (GRCm39)	T293A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGACCAAGAAGCAAGAATTTTCC -3'
(R):5'- AATAATCAGGTCACTTGTTCCCTC -3'

Sequencing Primer
(F):5'- CCAAGAAGCAAGAATTTTCCTAATAC -3'
(R):5'- CTTGTATTTCTGTCTGGACTCTCTG -3'

Posted On

2018-04-27