Incidental Mutation 'R5475:Klhdc4'
ID 434023
Institutional Source Beutler Lab
Gene Symbol Klhdc4
Ensembl Gene ENSMUSG00000040263
Gene Name kelch domain containing 4
Synonyms G430025P05Rik
MMRRC Submission 043036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5475 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 122523052-122556308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122526311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 276 (H276L)
Ref Sequence ENSEMBL: ENSMUSP00000134361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045884] [ENSMUST00000127664] [ENSMUST00000174192] [ENSMUST00000174717] [ENSMUST00000174665]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045884
AA Change: H307L

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: H307L

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: ENSMUST00000172507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172954
Predicted Effect possibly damaging
Transcript: ENSMUST00000174192
AA Change: H250L

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: H250L

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 noncoding transcript
Transcript: ENSMUST00000174206
Predicted Effect possibly damaging
Transcript: ENSMUST00000174717
AA Change: H276L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: H276L

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: 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
Meta Mutation Damage Score 0.2519 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency 96% (72/75)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
AA467197 A G 2: 122,482,646 (GRCm39) K70R probably damaging Het
Agr3 A G 12: 35,997,539 (GRCm39) N83S probably benign Het
Alpk2 T C 18: 65,440,083 (GRCm39) T904A probably benign Het
Ank A T 15: 27,557,285 (GRCm39) K156N probably damaging Het
Arsb T G 13: 93,998,773 (GRCm39) D360E probably benign Het
Atg14 C T 14: 47,805,793 (GRCm39) R24Q possibly damaging Het
Cacna1e A T 1: 154,601,455 (GRCm39) F71I possibly damaging Het
Cdc42bpg T C 19: 6,361,101 (GRCm39) I242T probably damaging Het
Cngb1 A T 8: 95,978,597 (GRCm39) I588N probably damaging Het
Col6a6 T C 9: 105,651,537 (GRCm39) H1158R probably null Het
Cse1l T C 2: 166,783,174 (GRCm39) S684P probably damaging Het
Cyp2c29 A T 19: 39,318,731 (GRCm39) M404L possibly damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dph7 A T 2: 24,858,969 (GRCm39) probably null Het
Dsg1c A T 18: 20,415,088 (GRCm39) N662Y probably damaging Het
Efcab9 T G 11: 32,472,862 (GRCm39) D195A probably damaging Het
Ephb4 A G 5: 137,352,701 (GRCm39) M95V probably benign Het
Fam171a1 A T 2: 3,226,334 (GRCm39) Y489F possibly damaging Het
Fars2 T C 13: 36,388,553 (GRCm39) I14T probably benign Het
Fbxo34 T C 14: 47,766,802 (GRCm39) V54A probably benign Het
Fbxw17 T C 13: 50,579,684 (GRCm39) I167T probably benign Het
Fzd9 A T 5: 135,279,123 (GRCm39) probably null Het
Gm26996 T A 6: 130,556,918 (GRCm39) noncoding transcript Het
Gm4744 A G 6: 40,927,388 (GRCm39) probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Has1 C A 17: 18,068,583 (GRCm39) R257L possibly damaging Het
Hjv T C 3: 96,434,599 (GRCm39) S113P probably benign Het
Hsd17b8 C T 17: 34,246,287 (GRCm39) probably benign Het
Kat2b T G 17: 53,970,609 (GRCm39) V665G probably damaging Het
Klhl6 A T 16: 19,766,877 (GRCm39) C506S probably damaging Het
Ldb2 T C 5: 44,699,174 (GRCm39) Y88C probably damaging Het
Lrit1 A G 14: 36,776,958 (GRCm39) E26G probably benign Het
Mcoln2 A G 3: 145,889,541 (GRCm39) Y414C probably damaging Het
Mfsd5 A G 15: 102,188,928 (GRCm39) D100G probably damaging Het
Micall2 T A 5: 139,702,224 (GRCm39) S340C probably damaging Het
Npsr1 T C 9: 24,211,715 (GRCm39) I81T probably damaging Het
Or2bd2 G T 7: 6,443,169 (GRCm39) R90L probably benign Het
Or2t49 A G 11: 58,392,431 (GRCm39) V317A probably benign Het
Or6x1 T A 9: 40,099,005 (GRCm39) L198H possibly damaging Het
Or8b56 T A 9: 38,739,762 (GRCm39) F258L possibly damaging Het
Pax3 T C 1: 78,080,055 (GRCm39) T444A probably benign Het
Pea15a A G 1: 172,026,809 (GRCm39) probably null Het
Phc1 T A 6: 122,311,051 (GRCm39) Q95L possibly damaging Het
Plch2 T C 4: 155,084,594 (GRCm39) Y361C probably damaging Het
Pphln1-ps1 A T 16: 13,494,977 (GRCm39) R25S possibly damaging Het
Rad54l2 C T 9: 106,583,057 (GRCm39) G787D probably damaging Het
Rbm20 G T 19: 53,823,136 (GRCm39) E578* probably null Het
Sipa1l2 A T 8: 126,218,334 (GRCm39) D334E probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thumpd1 A G 7: 119,319,943 (GRCm39) S8P probably benign Het
Tnxb T C 17: 34,908,567 (GRCm39) Y1407H probably damaging Het
Trav2 T A 14: 52,805,290 (GRCm39) V37E probably damaging Het
Trav3-1 G T 14: 52,818,494 (GRCm39) W56L probably damaging Het
Usp31 A T 7: 121,250,749 (GRCm39) L808Q probably damaging Het
Vmn1r52 C T 6: 90,155,894 (GRCm39) A66V probably benign Het
Vmn2r105 T A 17: 20,455,044 (GRCm39) I31L probably benign Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zbtb2 G T 10: 4,319,275 (GRCm39) F250L 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
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
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'- ACAGAAGAGTACATGTGCCTTC -3'
(R):5'- AAATTATGCTCCCGCCATGTG -3'

Sequencing Primer
(F):5'- AAGAGTACATGTGCCTTCAAAAG -3'
(R):5'- GCCATGTGCCTGGGTTCTC -3'
Posted On 2016-10-06