Incidental Mutation 'R8229:Klhl24'
ID 640960
Institutional Source Beutler Lab
Gene Symbol Klhl24
Ensembl Gene ENSMUSG00000062901
Gene Name kelch-like 24
Synonyms 4930429H24Rik, 1110046J11Rik, 6530402O20Rik
MMRRC Submission 067645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R8229 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 19916292-19947971 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19933321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 311 (Y311H)
Ref Sequence ENSEMBL: ENSMUSP00000023509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023509]
AlphaFold Q8BRG6
Predicted Effect possibly damaging
Transcript: ENSMUST00000023509
AA Change: Y311H

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: Y311H

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,201,754 (GRCm39) M203K probably damaging Het
Arhgap23 G A 11: 97,344,732 (GRCm39) V565I probably benign Het
D6Wsu163e G T 6: 126,943,966 (GRCm39) R454L probably benign Het
Def6 A G 17: 28,436,729 (GRCm39) D131G probably damaging Het
Erc1 T C 6: 119,730,249 (GRCm39) T616A probably benign Het
Ermard T A 17: 15,279,596 (GRCm39) probably benign Het
Fsip2 T C 2: 82,808,487 (GRCm39) L1602P possibly damaging Het
Gli1 C T 10: 127,168,317 (GRCm39) R512Q possibly damaging Het
Gm6034 A G 17: 36,367,268 (GRCm39) T38A unknown Het
H2-M10.1 T C 17: 36,634,931 (GRCm39) I325V probably benign Het
Inf2 A G 12: 112,578,030 (GRCm39) D1107G unknown Het
Iws1 A G 18: 32,217,740 (GRCm39) N448S probably benign Het
Lama3 C T 18: 12,540,608 (GRCm39) A304V probably benign Het
Limch1 A G 5: 67,186,138 (GRCm39) E646G probably damaging Het
Lrrc8c T A 5: 105,754,402 (GRCm39) V59E probably benign Het
Lrrn4 G A 2: 132,711,807 (GRCm39) T672I probably damaging Het
Magi3 C A 3: 103,923,017 (GRCm39) E1233D possibly damaging Het
Magi3 T C 3: 103,923,018 (GRCm39) E1233G probably benign Het
Mgat5b A T 11: 116,838,213 (GRCm39) K284M probably benign Het
Nedd4 G T 9: 72,638,670 (GRCm39) K485N probably benign Het
Or4c114 T A 2: 88,905,382 (GRCm39) N18Y possibly damaging Het
Or5b101 A G 19: 13,005,561 (GRCm39) I44T possibly damaging Het
Or5p57 C T 7: 107,665,794 (GRCm39) M70I probably benign Het
Or5w17 A T 2: 87,583,408 (GRCm39) C310S probably benign Het
Otud4 A G 8: 80,400,604 (GRCm39) H1106R unknown Het
Pcdha7 C A 18: 37,107,776 (GRCm39) S267* probably null Het
Pcdhb11 A G 18: 37,555,671 (GRCm39) I334V probably benign Het
Phf11b A T 14: 59,568,730 (GRCm39) L61Q probably damaging Het
Prepl T C 17: 85,388,689 (GRCm39) D138G probably benign Het
Sipa1l1 T C 12: 82,484,622 (GRCm39) V1592A probably damaging Het
Smc6 T A 12: 11,341,673 (GRCm39) S564T probably benign Het
Spty2d1 A G 7: 46,647,522 (GRCm39) V469A probably benign Het
Trim11 G A 11: 58,872,167 (GRCm39) probably benign Het
Ttll7 T A 3: 146,607,204 (GRCm39) I158K probably damaging Het
Ugt3a1 A G 15: 9,367,463 (GRCm39) E402G probably damaging Het
Usp33 T C 3: 152,075,929 (GRCm39) V383A probably benign Het
Ythdc1 A G 5: 86,957,167 (GRCm39) probably benign Het
Ywhab T G 2: 163,856,015 (GRCm39) Y130* probably null Het
Zfp609 T C 9: 65,610,782 (GRCm39) K727R possibly damaging Het
Zscan30 A C 18: 24,104,737 (GRCm39) L37R noncoding transcript Het
Other mutations in Klhl24
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTGCAAAGTAAATCACTGGCAG -3'
(R):5'- GCCAATCTGATTCCCAATCAAAAGTTG -3'

Sequencing Primer
(F):5'- GTAAATCACTGGCAGCCTGTACTG -3'
(R):5'- GATTCCCAATCAAAAGTTGTAGCTAC -3'
Posted On 2020-07-28