Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4585001:Klhl24'

556629

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 #

PIT4585001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19916292-19947971 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19925638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 55 (I55M)

Ref Sequence

ENSEMBL: ENSMUSP00000023509 (fasta)

Gene Model

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

AlphaFold

Q8BRG6

Predicted Effect

probably benign
Transcript: ENSMUST00000023509
AA Change: I55M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: I55M

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
AA Change: I55M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000232088
AA Change: I55M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 93.6%
3x: 91.2%
10x: 86.5%
20x: 76.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurka	T	C	2: 172,199,117 (GRCm39)	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,531,342 (GRCm39)	D560E	probably damaging	Het
Ccdc148	T	A	2: 58,872,988 (GRCm39)	T202S	probably benign	Het
Cdc42bpb	T	C	12: 111,271,412 (GRCm39)	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,390,285 (GRCm39)	N156K	probably damaging	Het
Cox18	G	A	5: 90,365,434 (GRCm39)	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,783,394 (GRCm39)	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,491,996 (GRCm39)	Y609C	probably damaging	Het
Doc2g	A	G	19: 4,056,630 (GRCm39)	T339A	probably benign	Het
Eif5a	T	C	11: 69,808,896 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,386,940 (GRCm39)		probably null	Het
Esco1	A	T	18: 10,594,355 (GRCm39)	C310*	probably null	Het
Fam222a	A	G	5: 114,749,101 (GRCm39)	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,496,573 (GRCm39)	L339P	probably damaging	Het
Gfral	A	T	9: 76,104,576 (GRCm39)	N145K	probably damaging	Het
Gga1	T	A	15: 78,777,990 (GRCm39)	N618K	probably benign	Het
Gpatch3	T	A	4: 133,310,397 (GRCm39)	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,666,747 (GRCm39)	R346*	probably null	Het
Gsg1	T	C	6: 135,214,558 (GRCm39)	E317G	probably benign	Het
Gsk3b	A	G	16: 38,004,816 (GRCm39)	N129S	probably damaging	Het
Hmg20b	G	T	10: 81,184,789 (GRCm39)	D94E	possibly damaging	Het
Kash5	C	T	7: 44,849,695 (GRCm39)	G76D	probably benign	Het
Klhdc9	T	A	1: 171,187,386 (GRCm39)	H204L	possibly damaging	Het
Kmt2c	T	C	5: 25,520,104 (GRCm39)	D2002G	probably benign	Het
Lama4	A	G	10: 38,950,742 (GRCm39)	N1015S	probably damaging	Het
Lpp	T	C	16: 24,580,697 (GRCm39)	C263R	probably benign	Het
Lrp1b	T	C	2: 41,159,216 (GRCm39)	I1689V		Het
Mipep	C	A	14: 61,022,284 (GRCm39)	Q50K	probably benign	Het
Mx1	T	C	16: 97,257,454 (GRCm39)	D101G	probably benign	Het
Nabp2	C	G	10: 128,244,676 (GRCm39)	E37Q	possibly damaging	Het
Nme6	A	G	9: 109,671,104 (GRCm39)	I115V	possibly damaging	Het
Nup93	A	T	8: 94,970,355 (GRCm39)	T85S	probably benign	Het
Oit3	T	A	10: 59,266,835 (GRCm39)	I224F	possibly damaging	Het
Parp14	T	C	16: 35,678,975 (GRCm39)	K331R	probably benign	Het
Pls1	T	A	9: 95,643,443 (GRCm39)	T519S	probably benign	Het
Rcn3	A	G	7: 44,736,118 (GRCm39)	F197L	probably benign	Het
Rnf213	C	T	11: 119,349,218 (GRCm39)	T3773I		Het
Rprd1b	A	T	2: 157,889,877 (GRCm39)	I153L	probably benign	Het
Scel	A	G	14: 103,829,804 (GRCm39)	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,794,276 (GRCm39)	S548L	possibly damaging	Het
Sim1	T	A	10: 50,860,284 (GRCm39)	Y715*	probably null	Het
Slc18a2	A	T	19: 59,282,293 (GRCm39)	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,722,365 (GRCm39)	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,055,246 (GRCm39)	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623 (GRCm39)	T396A	probably benign	Het
Tas2r104	T	C	6: 131,662,521 (GRCm39)	T63A	possibly damaging	Het
Tasor2	G	A	13: 3,624,979 (GRCm39)	A1657V	possibly damaging	Het
Top2a	C	T	11: 98,892,199 (GRCm39)	A1088T	probably benign	Het
Ucp1	T	C	8: 84,020,577 (GRCm39)	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298 (GRCm39)	D41E	probably benign	Het
Usp10	T	G	8: 120,681,631 (GRCm39)	V696G	probably benign	Het
Xylt2	C	T	11: 94,557,066 (GRCm39)	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,373,820 (GRCm39)	N41K	probably damaging	Het
Zfp109	T	A	7: 23,928,779 (GRCm39)	D218V	probably benign	Het
Zfp420	G	A	7: 29,575,430 (GRCm39)	R550Q	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
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'- AAGAAGATCCCTAGGAGCCATTTC -3'
(R):5'- GCTTCAGCTAAAATGCCATTGATC -3'

Sequencing Primer
(F):5'- GATCCCTAGGAGCCATTTCTCAGC -3'
(R):5'- GATCTCAACCAGCATTTCTCGG -3'

Posted On

2019-06-07