Incidental Mutation 'IGL01678:Klhdc4'
ID 103692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc4
Ensembl Gene ENSMUSG00000040263
Gene Name kelch domain containing 4
Synonyms G430025P05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01678
Quality Score
Status
Chromosome 8
Chromosomal Location 122523052-122556308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122523677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 513 (D513G)
Ref Sequence ENSEMBL: ENSMUSP00000043439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045884] [ENSMUST00000127664] [ENSMUST00000167439] [ENSMUST00000174192] [ENSMUST00000174717] [ENSMUST00000174665]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045884
AA Change: D513G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: D513G

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
Pfam:Kelch_4 63 118 8.3e-11 PFAM
Pfam:Kelch_3 75 125 1.7e-9 PFAM
Pfam:Kelch_6 118 174 2.4e-9 PFAM
Pfam:Kelch_4 118 175 3e-8 PFAM
Pfam:Kelch_3 131 185 2e-8 PFAM
Pfam:Kelch_5 173 216 7.5e-9 PFAM
Pfam:Kelch_3 186 239 2.1e-6 PFAM
Pfam:Kelch_1 295 345 4.6e-6 PFAM
Pfam:Kelch_2 295 349 2.1e-7 PFAM
low complexity region 489 520 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167439
SMART Domains Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318

DomainStartEndE-ValueType
MORN 13 34 8.01e-1 SMART
MORN 37 57 6.13e1 SMART
MORN 59 80 2.99e-1 SMART
Pfam:MORN 83 104 5.8e-2 PFAM
MORN 105 126 8.1e-5 SMART
MORN 128 149 2.74e-2 SMART
low complexity region 181 192 N/A INTRINSIC
low complexity region 212 244 N/A INTRINSIC
MORN 286 307 2.78e-3 SMART
MORN 309 330 1.03e-6 SMART
low complexity region 360 381 N/A INTRINSIC
low complexity region 393 409 N/A INTRINSIC
low complexity region 481 494 N/A INTRINSIC
transmembrane domain 721 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172954
Predicted Effect possibly damaging
Transcript: ENSMUST00000174192
AA Change: D456G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: D456G

DomainStartEndE-ValueType
Pfam:Kelch_3 32 70 1.5e-6 PFAM
Pfam:Kelch_6 61 117 1.9e-8 PFAM
Pfam:Kelch_4 61 118 6.9e-8 PFAM
Pfam:Kelch_3 74 128 4.6e-8 PFAM
Pfam:Kelch_5 116 159 1.4e-7 PFAM
Pfam:Kelch_4 119 172 2.2e-6 PFAM
Pfam:Kelch_3 129 182 7e-7 PFAM
Pfam:Kelch_2 238 292 1.8e-7 PFAM
low complexity region 432 463 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174717
AA Change: D482G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: D482G

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
Pfam:Kelch_4 63 117 1.4e-8 PFAM
Pfam:Kelch_3 75 127 9.6e-11 PFAM
Pfam:Kelch_4 118 170 2.3e-7 PFAM
Pfam:Kelch_6 118 174 9.3e-9 PFAM
low complexity region 191 202 N/A INTRINSIC
Pfam:Kelch_2 264 318 2e-7 PFAM
low complexity region 458 489 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174709
Predicted Effect probably benign
Transcript: ENSMUST00000174665
SMART Domains Protein: ENSMUSP00000134474
Gene: ENSMUSG00000040263

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
low complexity region 57 67 N/A INTRINSIC
low complexity region 104 114 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,443 (GRCm39) M236K probably benign Het
Abcc1 T A 16: 14,222,883 (GRCm39) M186K probably null Het
Adamts3 T C 5: 89,855,715 (GRCm39) N385S probably damaging Het
Adamts6 T C 13: 104,450,196 (GRCm39) V299A probably damaging Het
Angel1 T C 12: 86,763,800 (GRCm39) E500G probably benign Het
Car9 T C 4: 43,512,941 (GRCm39) probably benign Het
Colec11 A G 12: 28,644,867 (GRCm39) F209S probably damaging Het
Dnaaf10 T C 11: 17,182,790 (GRCm39) V317A probably benign Het
Dock10 A G 1: 80,521,069 (GRCm39) Y1179H probably damaging Het
Ece1 T A 4: 137,690,044 (GRCm39) W697R probably damaging Het
Eml2 T A 7: 18,920,047 (GRCm39) M117K probably benign Het
Flii G T 11: 60,607,672 (GRCm39) probably benign Het
Frmpd1 T A 4: 45,243,717 (GRCm39) D63E probably damaging Het
Ftmt A T 18: 52,465,206 (GRCm39) H174L probably damaging Het
Gpr37l1 A G 1: 135,094,791 (GRCm39) V151A probably damaging Het
Inppl1 T C 7: 101,481,803 (GRCm39) T180A probably benign Het
Klrb1a A G 6: 128,595,411 (GRCm39) probably benign Het
Nit1 A G 1: 171,170,262 (GRCm39) V270A probably damaging Het
Or6c5 A C 10: 129,074,537 (GRCm39) D173A possibly damaging Het
Phox2b T A 5: 67,256,262 (GRCm39) Y8F probably damaging Het
Psg20 T A 7: 18,414,795 (GRCm39) S364C probably damaging Het
Rab38 T A 7: 88,079,740 (GRCm39) V44E probably damaging Het
Rapgef4 T C 2: 72,072,569 (GRCm39) probably benign Het
Ror1 C T 4: 100,283,165 (GRCm39) P410L possibly damaging Het
Rptn A G 3: 93,304,118 (GRCm39) N484D probably benign Het
Sirpb1a G T 3: 15,476,370 (GRCm39) S142R probably damaging Het
Smox G A 2: 131,353,979 (GRCm39) R17H possibly damaging Het
Top6bl T A 19: 4,722,193 (GRCm39) I76L possibly damaging Het
Trpm7 A T 2: 126,658,719 (GRCm39) C1146S probably damaging Het
Upf3a C T 8: 13,841,930 (GRCm39) A155V probably benign Het
Vmn1r212 A T 13: 23,068,081 (GRCm39) V84D probably damaging Het
Vmn2r40 T C 7: 8,923,105 (GRCm39) N419D probably damaging Het
Zfp143 C A 7: 109,679,558 (GRCm39) probably benign Het
Zmat4 T A 8: 24,392,064 (GRCm39) C7S probably damaging Het
Other mutations in Klhdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Klhdc4 APN 8 122,548,582 (GRCm39) nonsense probably null
kilimanjaro UTSW 8 122,540,529 (GRCm39) nonsense probably null
R0577:Klhdc4 UTSW 8 122,548,090 (GRCm39) missense probably damaging 0.99
R0881:Klhdc4 UTSW 8 122,526,226 (GRCm39) nonsense probably null
R1710:Klhdc4 UTSW 8 122,526,226 (GRCm39) nonsense probably null
R2993:Klhdc4 UTSW 8 122,533,320 (GRCm39) nonsense probably null
R3028:Klhdc4 UTSW 8 122,526,288 (GRCm39) missense probably damaging 1.00
R3109:Klhdc4 UTSW 8 122,548,073 (GRCm39) missense probably damaging 1.00
R3711:Klhdc4 UTSW 8 122,524,794 (GRCm39) missense probably benign
R4132:Klhdc4 UTSW 8 122,524,804 (GRCm39) missense possibly damaging 0.79
R4601:Klhdc4 UTSW 8 122,526,266 (GRCm39) missense probably damaging 1.00
R4644:Klhdc4 UTSW 8 122,548,739 (GRCm39) intron probably benign
R4758:Klhdc4 UTSW 8 122,524,783 (GRCm39) missense probably benign 0.00
R4999:Klhdc4 UTSW 8 122,523,342 (GRCm39) missense probably benign 0.00
R5177:Klhdc4 UTSW 8 122,540,529 (GRCm39) nonsense probably null
R5364:Klhdc4 UTSW 8 122,533,375 (GRCm39) intron probably benign
R5475:Klhdc4 UTSW 8 122,526,311 (GRCm39) missense possibly damaging 0.67
R5705:Klhdc4 UTSW 8 122,531,732 (GRCm39) missense probably benign 0.01
R6248:Klhdc4 UTSW 8 122,540,507 (GRCm39) missense probably damaging 1.00
R6326:Klhdc4 UTSW 8 122,531,793 (GRCm39) missense probably damaging 1.00
R6626:Klhdc4 UTSW 8 122,546,901 (GRCm39) missense probably benign 0.43
R7274:Klhdc4 UTSW 8 122,526,397 (GRCm39) critical splice acceptor site probably null
R7716:Klhdc4 UTSW 8 122,556,159 (GRCm39) missense unknown
R8430:Klhdc4 UTSW 8 122,526,252 (GRCm39) missense possibly damaging 0.82
R8841:Klhdc4 UTSW 8 122,523,380 (GRCm39) missense possibly damaging 0.84
R9089:Klhdc4 UTSW 8 122,524,684 (GRCm39) missense probably benign 0.06
R9443:Klhdc4 UTSW 8 122,523,765 (GRCm39) missense possibly damaging 0.68
R9461:Klhdc4 UTSW 8 122,526,224 (GRCm39) missense probably damaging 1.00
R9612:Klhdc4 UTSW 8 122,527,917 (GRCm39) missense possibly damaging 0.93
Posted On 2014-01-21