Mutagenetix > Incidental Mutation

Incidental Mutation 'R1658:Klhl24'

186552

Institutional Source

Beutler Lab

Gene Symbol

Klhl24

Ensembl Gene

ENSMUSG00000062901

Gene Name

kelch-like 24

Synonyms

4930429H24Rik, 1110046J11Rik, 6530402O20Rik

MMRRC Submission

039694-MU

Accession Numbers

Essential gene?

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

Stock #

R1658 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19916292-19947971 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 19925842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 123 (Y123*)

Ref Sequence

ENSEMBL: ENSMUSP00000155913 (fasta)

Gene Model

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

AlphaFold

Q8BRG6

Predicted Effect

probably null
Transcript: ENSMUST00000023509
AA Change: Y123*

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: Y123*

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 null
Transcript: ENSMUST00000231842
AA Change: Y123*

Predicted Effect

probably null
Transcript: ENSMUST00000232088
AA Change: Y123*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232494

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,255,164 (GRCm39)	S604A	probably benign	Het
Apbb1	G	A	7: 105,223,291 (GRCm39)	P107S	probably damaging	Het
Baz2a	T	A	10: 127,960,252 (GRCm39)	M1489K	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdca2	A	G	14: 67,915,148 (GRCm39)	S704P	possibly damaging	Het
Cemip2	T	C	19: 21,779,243 (GRCm39)	V351A	probably damaging	Het
Chfr	T	C	5: 110,301,035 (GRCm39)	I312T	probably damaging	Het
Csmd1	A	G	8: 16,131,739 (GRCm39)	V1662A	possibly damaging	Het
Dgkd	T	A	1: 87,853,990 (GRCm39)	L611Q	probably damaging	Het
Dicer1	A	G	12: 104,666,673 (GRCm39)	V1376A	probably benign	Het
Elp2	C	T	18: 24,750,470 (GRCm39)	T269M	probably benign	Het
Ephb6	T	A	6: 41,591,179 (GRCm39)	V112E	probably damaging	Het
Fbxo11	A	T	17: 88,320,086 (GRCm39)	Y209N	probably benign	Het
Frem1	C	T	4: 82,920,045 (GRCm39)	R437Q	probably damaging	Het
G6pc2	A	T	2: 69,057,413 (GRCm39)	K353M	probably damaging	Het
Gabbr1	A	G	17: 37,358,399 (GRCm39)	T46A	probably damaging	Het
Gbp9	T	A	5: 105,242,334 (GRCm39)	Q135L	probably damaging	Het
Gstp1	A	T	19: 4,087,375 (GRCm39)	M20K	probably damaging	Het
Heatr6	A	G	11: 83,649,193 (GRCm39)	R183G	probably damaging	Het
Ints11	A	G	4: 155,972,185 (GRCm39)	K397E	probably damaging	Het
Intu	A	G	3: 40,647,211 (GRCm39)	T695A	probably benign	Het
Kif21b	T	C	1: 136,099,023 (GRCm39)	V1437A	probably damaging	Het
Lipm	C	T	19: 34,093,847 (GRCm39)	L255F	probably benign	Het
Max	A	T	12: 76,985,355 (GRCm39)	M121K	probably benign	Het
Mga	A	T	2: 119,772,170 (GRCm39)	I1677L	possibly damaging	Het
Msantd1	C	A	5: 35,078,905 (GRCm39)	L147M	probably damaging	Het
Msantd1	T	A	5: 35,078,906 (GRCm39)	L147Q	probably benign	Het
Mylk4	T	C	13: 32,896,772 (GRCm39)	D363G	possibly damaging	Het
Naaa	T	C	5: 92,420,300 (GRCm39)		probably null	Het
Ninl	A	G	2: 150,806,079 (GRCm39)	Y381H	probably damaging	Het
Nwd2	A	G	5: 63,964,589 (GRCm39)	N1391S	probably damaging	Het
Or6k8-ps1	G	A	1: 173,979,789 (GRCm39)	A236T	probably damaging	Het
Or8g18	C	T	9: 39,149,255 (GRCm39)	C155Y	probably benign	Het
Phip	A	G	9: 82,753,551 (GRCm39)	V1731A	probably benign	Het
Plxnb1	T	A	9: 108,931,939 (GRCm39)	C488*	probably null	Het
Rgs7	T	C	1: 174,907,120 (GRCm39)	I374V	probably benign	Het
Rin2	A	T	2: 145,718,376 (GRCm39)	M574L	probably benign	Het
Rps18	A	T	17: 34,171,392 (GRCm39)	D92E	probably benign	Het
Scrn1	T	A	6: 54,497,791 (GRCm39)	I267L	probably benign	Het
Stard9	T	C	2: 120,532,023 (GRCm39)	V67A	probably benign	Het
Syne1	T	G	10: 5,317,616 (GRCm39)	M493L	probably benign	Het
Tbc1d2	G	A	4: 46,614,207 (GRCm39)	R625C	probably damaging	Het
Tcerg1l	A	G	7: 137,995,909 (GRCm39)	S200P	probably damaging	Het
Tet3	A	T	6: 83,346,039 (GRCm39)	V1331E	probably benign	Het
Ticrr	A	T	7: 79,345,297 (GRCm39)	I1721F	possibly damaging	Het
Tjp2	T	C	19: 24,090,311 (GRCm39)	D577G	probably damaging	Het
Tmem38b	A	G	4: 53,840,713 (GRCm39)	M43V	probably benign	Het
Trabd	T	A	15: 88,970,069 (GRCm39)		probably null	Het
Trpv5	C	A	6: 41,651,216 (GRCm39)	D277Y	probably damaging	Het
Tubb1	A	C	2: 174,298,416 (GRCm39)	D67A	probably damaging	Het
Ubxn7	A	G	16: 32,200,054 (GRCm39)		probably null	Het
Ugp2	G	A	11: 21,283,774 (GRCm39)	P98S	probably benign	Het
Vmn2r66	G	T	7: 84,656,955 (GRCm39)	P150Q	probably benign	Het
Zbtb11	A	T	16: 55,794,588 (GRCm39)	H55L	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
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'- TTCCGAGACAGCCGCTTATTCAC -3'
(R):5'- GCTGGGACACATCCTCAAAAGTCTG -3'

Sequencing Primer
(F):5'- GACAGCCGCTTATTCACAGATG -3'
(R):5'- GGACACATCCTCAAAAGTCTGTAATG -3'

Posted On

2014-05-09