Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02799:Klhl24'

392309

Institutional Source

Beutler Lab

Gene Symbol

Klhl24

Ensembl Gene

ENSMUSG00000062901

Gene Name

kelch-like 24

Synonyms

4930429H24Rik, 1110046J11Rik, 6530402O20Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02799 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19916292-19947971 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19933331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 314 (V314A)

Ref Sequence

ENSEMBL: ENSMUSP00000023509 (fasta)

Gene Model

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

AlphaFold

Q8BRG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023509
AA Change: V314A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: V314A

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (67/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	G	6: 86,083,234 (GRCm39)	N444S	possibly damaging	Het
Atp2b2	A	T	6: 113,739,813 (GRCm39)	Y823*	probably null	Het
Atp2c1	A	C	9: 105,290,242 (GRCm39)		probably benign	Het
Capns1	A	T	7: 29,891,644 (GRCm39)	D133E	probably benign	Het
Cast	A	G	13: 74,884,871 (GRCm39)	V361A	probably damaging	Het
Cd69	G	A	6: 129,245,223 (GRCm39)		probably benign	Het
Celsr2	T	A	3: 108,321,378 (GRCm39)	D478V	probably damaging	Het
Cenpf	T	C	1: 189,391,849 (GRCm39)	E661G	probably damaging	Het
Chrna1	A	G	2: 73,404,985 (GRCm39)		probably benign	Het
Clec5a	C	A	6: 40,554,983 (GRCm39)	V138F	probably damaging	Het
Ctsj	T	A	13: 61,151,634 (GRCm39)	I95F	probably benign	Het
Dcaf1	T	A	9: 106,735,139 (GRCm39)	S696T	probably benign	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnajc14	C	T	10: 128,642,725 (GRCm39)	P216S	possibly damaging	Het
Dst	T	C	1: 34,218,930 (GRCm39)	I1790T	possibly damaging	Het
Ehmt1	A	T	2: 24,705,818 (GRCm39)	H789Q	probably damaging	Het
Exoc7	A	T	11: 116,192,007 (GRCm39)	L188Q	probably damaging	Het
Faap100	A	G	11: 120,261,561 (GRCm39)	L823P	probably damaging	Het
Fdxacb1	T	A	9: 50,683,896 (GRCm39)	S620T	probably benign	Het
Fhl2	C	T	1: 43,167,562 (GRCm39)	R177Q	probably benign	Het
Gars1	C	A	6: 55,040,084 (GRCm39)	T337K	probably damaging	Het
Ggta1	A	T	2: 35,312,211 (GRCm39)	F56I	probably damaging	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gpr108	T	A	17: 57,544,482 (GRCm39)	I343F	probably damaging	Het
Gpr12	T	A	5: 146,520,629 (GRCm39)	I98F	possibly damaging	Het
Hk2	A	G	6: 82,737,219 (GRCm39)	L3P	probably damaging	Het
Imp4	C	A	1: 34,479,258 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,720,888 (GRCm39)	V1049M	probably damaging	Het
Krt32	A	T	11: 99,978,733 (GRCm39)	V107D	possibly damaging	Het
Krtap5-1	G	A	7: 141,850,242 (GRCm39)	Q189*	probably null	Het
Lrrc9	A	G	12: 72,553,178 (GRCm39)	E1360G	probably damaging	Het
Mdc1	G	T	17: 36,157,083 (GRCm39)	L163F	possibly damaging	Het
Mroh1	T	G	15: 76,276,661 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,192,418 (GRCm39)		probably benign	Het
Ndufab1	A	T	7: 121,692,949 (GRCm39)		probably benign	Het
Nek3	A	G	8: 22,648,735 (GRCm39)		probably benign	Het
Ngly1	A	T	14: 16,260,636 (GRCm38)	I107L	probably benign	Het
Nkain4	A	T	2: 180,577,728 (GRCm39)		probably null	Het
Nsd2	T	A	5: 34,022,132 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,801 (GRCm39)	I303T	probably benign	Het
Or5e1	A	T	7: 108,354,830 (GRCm39)	M256L	probably benign	Het
Or5t9	A	T	2: 86,659,300 (GRCm39)	H68L	probably damaging	Het
Or7e166	T	A	9: 19,624,314 (GRCm39)	Y64N	probably damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcnt	G	A	10: 76,248,417 (GRCm39)	Q901*	probably null	Het
Pctp	C	A	11: 89,881,913 (GRCm39)	W81C	probably damaging	Het
Pik3r5	A	T	11: 68,386,773 (GRCm39)	I801F	probably damaging	Het
Ptprj	A	T	2: 90,299,942 (GRCm39)	N193K	probably benign	Het
Rab11fip1	A	T	8: 27,642,788 (GRCm39)	D670E	probably benign	Het
Racgap1	T	C	15: 99,530,628 (GRCm39)	K201E	probably benign	Het
Ranbp2	T	C	10: 58,316,086 (GRCm39)	F2269L	probably damaging	Het
Rint1	C	A	5: 24,024,478 (GRCm39)	A760D	possibly damaging	Het
Ryr2	G	A	13: 11,680,848 (GRCm39)	P3166S	probably damaging	Het
Snap29	A	G	16: 17,240,367 (GRCm39)	N158D	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,657,473 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,209,717 (GRCm39)	T202I	probably damaging	Het
Stxbp4	A	G	11: 90,385,426 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,309,059 (GRCm39)	M650K	probably damaging	Het
Tbc1d2b	C	T	9: 90,105,487 (GRCm39)		probably benign	Het
Tcfl5	A	T	2: 180,280,419 (GRCm39)	I328N	possibly damaging	Het
Tenm2	A	G	11: 36,164,235 (GRCm39)	Y337H	probably damaging	Het
Tgfbr2	T	C	9: 115,939,204 (GRCm39)	K233E	possibly damaging	Het
Tnk2	T	C	16: 32,484,699 (GRCm39)		probably benign	Het
Trbv13-2	A	G	6: 41,098,471 (GRCm39)		probably benign	Het
Tut4	T	C	4: 108,370,725 (GRCm39)	Y875H	probably benign	Het
Usp6nl	T	A	2: 6,432,360 (GRCm39)		probably benign	Het
Vmn2r62	A	G	7: 42,437,396 (GRCm39)	S363P	possibly damaging	Het
Vnn3	T	C	10: 23,727,869 (GRCm39)	I93T	possibly damaging	Het
Ylpm1	A	G	12: 85,091,258 (GRCm39)	D1108G	probably damaging	Het
Zbtb17	G	A	4: 141,190,691 (GRCm39)	G170S	probably benign	Het
Zfyve26	T	C	12: 79,320,084 (GRCm39)	E1087G	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
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
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'- GCAAAGTAAATCACTGGCAGC -3'
(R):5'- GCCAATCTGATTCCCAATCAAAAGTTG -3'

Sequencing Primer
(F):5'- GTAAATCACTGGCAGCCTGTACTG -3'
(R):5'- GATTCCCAATCAAAAGTTGTAGCTAC -3'

Posted On

2016-06-09