Incidental Mutation 'IGL02419:Klhl24'
ID 292571
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02419
Quality Score
Status
Chromosome 16
Chromosomal Location 19916292-19947971 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 19926118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 215 (Y215*)
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: Y215*
SMART Domains Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: Y215*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000232088
AA Change: Y215*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232494
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 88,312,727 (GRCm39) F171L possibly damaging Het
Abca2 A G 2: 25,336,849 (GRCm39) N2291D probably benign Het
Adamts9 A G 6: 92,773,978 (GRCm39) V1145A probably benign Het
Adcy2 A G 13: 69,130,482 (GRCm39) V135A probably benign Het
Akr1c14 A T 13: 4,130,617 (GRCm39) probably null Het
Aptx G T 4: 40,691,032 (GRCm39) A229E probably benign Het
Ash1l T C 3: 88,892,872 (GRCm39) S1584P probably benign Het
Catsper3 A T 13: 55,955,881 (GRCm39) T329S possibly damaging Het
Cntrl A G 2: 35,024,055 (GRCm39) D27G probably damaging Het
Cobll1 A T 2: 64,981,392 (GRCm39) I98K probably damaging Het
Ctdp1 T C 18: 80,463,799 (GRCm39) K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 (GRCm39) probably null Het
Cyp11b2 A T 15: 74,722,904 (GRCm39) F498Y probably damaging Het
Dnpep A G 1: 75,292,332 (GRCm39) I162T probably damaging Het
Efcab9 T C 11: 32,472,950 (GRCm39) I166V probably benign Het
Ep400 A T 5: 110,845,242 (GRCm39) probably null Het
Gata6 G A 18: 11,054,220 (GRCm39) G50R probably damaging Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Grifin T C 5: 140,550,455 (GRCm39) T20A probably benign Het
Hnf4a A T 2: 163,408,202 (GRCm39) I352F probably damaging Het
Ifi204 T C 1: 173,576,946 (GRCm39) T552A possibly damaging Het
Ifi205 C T 1: 173,845,180 (GRCm39) A201T probably damaging Het
Kcnk6 A G 7: 28,924,627 (GRCm39) V259A probably benign Het
Kif21b A G 1: 136,079,005 (GRCm39) N451S probably benign Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mical1 A G 10: 41,358,273 (GRCm39) K429E possibly damaging Het
Misp A G 10: 79,663,705 (GRCm39) probably benign Het
Mon2 T C 10: 122,852,352 (GRCm39) N1007S probably benign Het
Or10v1 A T 19: 11,874,186 (GRCm39) Y267F probably benign Het
Or14a260 C A 7: 85,984,870 (GRCm39) V245F probably damaging Het
Or51v8 A T 7: 103,319,682 (GRCm39) C185* probably null Het
Or8k41 T A 2: 86,313,259 (GRCm39) I276F probably damaging Het
Pex6 C A 17: 47,035,361 (GRCm39) T840N possibly damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rapgef3 G T 15: 97,648,171 (GRCm39) N679K probably benign Het
Serpina3n T C 12: 104,379,777 (GRCm39) V390A possibly damaging Het
Sirpb1a A G 3: 15,491,398 (GRCm39) F23S probably benign Het
Slc44a3 T C 3: 121,283,906 (GRCm39) T449A probably benign Het
Smad6 G A 9: 63,860,800 (GRCm39) probably benign Het
Sos2 C T 12: 69,663,764 (GRCm39) M573I probably benign Het
St8sia1 A T 6: 142,774,661 (GRCm39) I306N probably damaging Het
Tnks1bp1 T C 2: 84,902,125 (GRCm39) S1674P possibly damaging Het
Trim47 G A 11: 115,997,027 (GRCm39) R576W probably damaging Het
Wdr86 A T 5: 24,927,702 (GRCm39) I79N probably damaging Het
Wwp2 T A 8: 108,276,447 (GRCm39) V473D probably damaging Het
Zc3h12a T C 4: 125,013,581 (GRCm39) T428A probably benign Het
Zfp592 A G 7: 80,687,993 (GRCm39) E973G probably damaging Het
Other mutations in Klhl24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Klhl24 APN 16 19,941,717 (GRCm39) missense possibly damaging 0.78
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
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
Posted On 2015-04-16