Incidental Mutation 'R3109:Klhdc4'
ID 263706
Institutional Source Beutler Lab
Gene Symbol Klhdc4
Ensembl Gene ENSMUSG00000040263
Gene Name kelch domain containing 4
Synonyms G430025P05Rik
MMRRC Submission 040583-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R3109 (G1)
Quality Score 202
Status Validated
Chromosome 8
Chromosomal Location 122523052-122556308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 122548073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 72 (H72Q)
Ref Sequence ENSEMBL: ENSMUSP00000134361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045884] [ENSMUST00000127664] [ENSMUST00000174192] [ENSMUST00000174255] [ENSMUST00000174665] [ENSMUST00000174717]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045884
AA Change: H72Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: H72Q

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 noncoding transcript
Transcript: ENSMUST00000172470
Predicted Effect probably benign
Transcript: ENSMUST00000174192
SMART Domains Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263

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 probably benign
Transcript: ENSMUST00000174255
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174709
Predicted Effect probably damaging
Transcript: ENSMUST00000174717
AA Change: H72Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: H72Q

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
Meta Mutation Damage Score 0.4588 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Adamts20 T C 15: 94,243,785 (GRCm39) probably benign Het
Alkbh3 T C 2: 93,835,108 (GRCm39) E80G probably damaging Het
Amfr T C 8: 94,726,934 (GRCm39) Y93C probably damaging Het
Arid2 T C 15: 96,254,627 (GRCm39) Y158H probably damaging Het
Camk1g T C 1: 193,037,301 (GRCm39) Y133C probably damaging Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dennd1b G A 1: 138,969,654 (GRCm39) probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Igfn1 T C 1: 135,925,586 (GRCm39) D56G probably benign Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Kmt2c A G 5: 25,480,733 (GRCm39) Y1459H probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Per2 A T 1: 91,373,297 (GRCm39) C164S probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbl2 T A 8: 91,828,863 (GRCm39) I588N probably benign Het
Rslcan18 C T 13: 67,246,671 (GRCm39) E314K possibly damaging Het
Ubr3 A T 2: 69,819,184 (GRCm39) T1325S probably damaging Het
Unc45a A G 7: 79,981,294 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Other mutations in Klhdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Klhdc4 APN 8 122,548,582 (GRCm39) nonsense probably null
IGL01678:Klhdc4 APN 8 122,523,677 (GRCm39) missense possibly damaging 0.73
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
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
Predicted Primers PCR Primer
(F):5'- TGACACTTAGCATGTGGGAG -3'
(R):5'- AGAGCTTGCATGTCGTCCTG -3'

Sequencing Primer
(F):5'- CTTAGCATGTGGGAGCGCAAG -3'
(R):5'- AGCGTGCCTAGTTGCAG -3'
Posted On 2015-02-05