Incidental Mutation 'IGL01411:Klhl4'
ID 80019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl4
Ensembl Gene ENSMUSG00000025597
Gene Name kelch-like 4
Synonyms C130018J01Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01411
Quality Score
Status
Chromosome X
Chromosomal Location 113384030-113470526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113432091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 168 (D168V)
Ref Sequence ENSEMBL: ENSMUSP00000118072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040504] [ENSMUST00000113371] [ENSMUST00000133447]
AlphaFold B1AZR0
Predicted Effect probably damaging
Transcript: ENSMUST00000040504
AA Change: D228V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038080
Gene: ENSMUSG00000025597
AA Change: D228V

DomainStartEndE-ValueType
BTB 181 278 1.56e-26 SMART
BACK 283 384 2.07e-35 SMART
Kelch 429 475 6.71e-10 SMART
Kelch 476 522 1.26e-14 SMART
Kelch 523 569 6.56e-13 SMART
Kelch 570 616 9.34e-18 SMART
Kelch 617 669 1.6e-7 SMART
Kelch 670 716 2.07e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113371
AA Change: D228V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108998
Gene: ENSMUSG00000025597
AA Change: D228V

DomainStartEndE-ValueType
BTB 181 278 1.56e-26 SMART
BACK 283 384 2.07e-35 SMART
Kelch 429 469 1.67e-5 SMART
Kelch 470 516 1.26e-14 SMART
Kelch 517 563 6.56e-13 SMART
Kelch 564 610 9.34e-18 SMART
Kelch 611 663 1.6e-7 SMART
Kelch 664 710 2.07e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000133447
AA Change: D168V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118072
Gene: ENSMUSG00000025597
AA Change: D168V

DomainStartEndE-ValueType
BTB 121 218 1.56e-26 SMART
BACK 223 329 1.27e-21 SMART
Kelch 342 382 1.67e-5 SMART
Kelch 383 429 1.26e-14 SMART
Kelch 430 476 6.56e-13 SMART
Kelch 477 523 9.34e-18 SMART
Kelch 524 576 1.6e-7 SMART
Kelch 577 623 2.07e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,888,629 (GRCm39) E36K possibly damaging Het
Alox8 A T 11: 69,079,516 (GRCm39) S257R probably benign Het
Apc2 T C 10: 80,150,912 (GRCm39) S1960P probably damaging Het
Arhgap35 T C 7: 16,298,192 (GRCm39) N291S probably benign Het
AW551984 A T 9: 39,505,087 (GRCm39) D468E possibly damaging Het
B3gnt6 A C 7: 97,843,730 (GRCm39) F77V probably damaging Het
C1qtnf7 A T 5: 43,766,403 (GRCm39) M1L probably benign Het
Calm3 T C 7: 16,651,409 (GRCm39) T63A probably benign Het
Ccdc33 G A 9: 58,024,919 (GRCm39) probably benign Het
Cdh4 C T 2: 179,422,196 (GRCm39) R107C probably damaging Het
Cdr2l A G 11: 115,273,192 (GRCm39) E15G probably damaging Het
Chil6 A G 3: 106,296,141 (GRCm39) W365R probably damaging Het
Ckap5 G T 2: 91,431,356 (GRCm39) R1525L probably benign Het
Col6a6 T A 9: 105,663,157 (GRCm39) K127* probably null Het
Dclre1b A G 3: 103,710,639 (GRCm39) V298A probably damaging Het
Fat1 T A 8: 45,479,837 (GRCm39) V2961E probably damaging Het
Fhit T C 14: 9,573,483 (GRCm38) D126G probably benign Het
Gpc1 T C 1: 92,784,736 (GRCm39) F303S probably damaging Het
Hsd17b4 T A 18: 50,324,881 (GRCm39) V698D probably damaging Het
Itpr2 C T 6: 146,277,560 (GRCm39) probably null Het
Krt42 A G 11: 100,154,167 (GRCm39) L405P possibly damaging Het
Lrp1 A T 10: 127,417,634 (GRCm39) C85* probably null Het
Lrp2 A G 2: 69,312,611 (GRCm39) L2559P probably damaging Het
Maob T G X: 16,578,808 (GRCm39) R448S possibly damaging Het
Mast3 A G 8: 71,232,227 (GRCm39) V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,846,723 (GRCm39) V286M probably damaging Het
Mlip A G 9: 77,146,699 (GRCm39) I198T possibly damaging Het
Mocs3 T C 2: 168,073,297 (GRCm39) V248A probably damaging Het
Nxf2 T A X: 133,852,861 (GRCm39) R367S probably benign Het
Or10j3b T G 1: 173,043,695 (GRCm39) V159G probably benign Het
Or52z12 T C 7: 103,233,324 (GRCm39) W32R probably damaging Het
Parva T C 7: 112,176,217 (GRCm39) probably benign Het
Pot1a A T 6: 25,750,143 (GRCm39) probably benign Het
Ptpra T C 2: 130,386,359 (GRCm39) I603T probably damaging Het
Rad9a T C 19: 4,251,336 (GRCm39) K33E probably benign Het
Rimbp3 A G 16: 17,028,958 (GRCm39) D794G probably damaging Het
Septin5 G A 16: 18,443,680 (GRCm39) R90C probably damaging Het
Skint8 T A 4: 111,794,103 (GRCm39) N164K probably damaging Het
Slc30a3 T G 5: 31,247,424 (GRCm39) I73L probably benign Het
Stab2 A T 10: 86,815,872 (GRCm39) probably benign Het
Tnc C T 4: 63,918,959 (GRCm39) V1155M probably damaging Het
Ttc13 T G 8: 125,410,024 (GRCm39) Q525P probably damaging Het
Ttn T C 2: 76,550,479 (GRCm39) E31601G probably damaging Het
Unc5a A T 13: 55,150,741 (GRCm39) D577V probably damaging Het
Usp18 G A 6: 121,238,380 (GRCm39) V176M probably benign Het
Vmn1r184 T C 7: 25,966,320 (GRCm39) V22A probably benign Het
Vmn1r33 T A 6: 66,588,865 (GRCm39) I230F probably damaging Het
Vmn1r51 A G 6: 90,106,386 (GRCm39) I101V probably benign Het
Vmn2r108 T A 17: 20,691,282 (GRCm39) M414L probably benign Het
Vmn2r87 A C 10: 130,308,429 (GRCm39) V603G probably benign Het
Wt1 A G 2: 104,963,319 (GRCm39) Y16C probably damaging Het
Wwp2 C T 8: 108,232,977 (GRCm39) T159I probably benign Het
Xirp2 T C 2: 67,344,427 (GRCm39) F2223L probably benign Het
Zan T A 5: 137,387,155 (GRCm39) H4966L unknown Het
Other mutations in Klhl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1177:Klhl4 UTSW X 113,461,299 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05