Incidental Mutation 'R8430:Klhdc4'
ID 653711
Institutional Source Beutler Lab
Gene Symbol Klhdc4
Ensembl Gene ENSMUSG00000040263
Gene Name kelch domain containing 4
Synonyms G430025P05Rik
MMRRC Submission 067775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 122523052-122556308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122526252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 327 (S327P)
Ref Sequence ENSEMBL: ENSMUSP00000043439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045884] [ENSMUST00000127664] [ENSMUST00000174192] [ENSMUST00000174665] [ENSMUST00000174717]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045884
AA Change: S327P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: S327P

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 possibly damaging
Transcript: ENSMUST00000174192
AA Change: S270P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: S270P

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: 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 possibly damaging
Transcript: ENSMUST00000174717
AA Change: S296P

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: S296P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,078,981 (GRCm39) T677I probably benign Het
Adh4 T G 3: 138,128,145 (GRCm39) N190K probably damaging Het
Ahnak2 A T 12: 112,741,121 (GRCm39) S984T possibly damaging Het
Aknad1 A G 3: 108,659,037 (GRCm39) D17G possibly damaging Het
Ankrd11 T C 8: 123,620,105 (GRCm39) N1249S probably benign Het
Ankrd31 A G 13: 96,988,199 (GRCm39) K1071E possibly damaging Het
Atp1a3 A G 7: 24,698,437 (GRCm39) L120P probably damaging Het
AU040320 C A 4: 126,742,693 (GRCm39) A986E possibly damaging Het
Camkv T C 9: 107,824,968 (GRCm39) M323T probably damaging Het
Cdh18 T G 15: 23,226,770 (GRCm39) L77R probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Cpeb3 A T 19: 37,002,406 (GRCm39) F669I probably damaging Het
Cramp1 A T 17: 25,196,536 (GRCm39) H859Q probably damaging Het
Csnk1g1 C A 9: 65,906,803 (GRCm39) T140K probably damaging Het
Ctnnbl1 A G 2: 157,678,603 (GRCm39) E402G probably damaging Het
Cyp20a1 T C 1: 60,402,488 (GRCm39) V191A possibly damaging Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Fgfr2 T C 7: 129,765,708 (GRCm39) N835S probably damaging Het
Fggy GCACCA GCA 4: 95,815,002 (GRCm39) probably benign Het
Gpatch1 G A 7: 35,007,634 (GRCm39) T142M probably damaging Het
Gtf3c2 G A 5: 31,330,403 (GRCm39) A189V probably damaging Het
Heatr5b T C 17: 79,137,053 (GRCm39) I156V probably damaging Het
Itpka T A 2: 119,580,035 (GRCm39) V258E probably damaging Het
L1td1 C T 4: 98,626,109 (GRCm39) T702I probably damaging Het
Lap3 A G 5: 45,654,726 (GRCm39) D110G probably benign Het
Mab21l1 C A 3: 55,690,830 (GRCm39) A139E probably damaging Het
Myo15b G A 11: 115,773,049 (GRCm39) V173M probably benign Het
Or12e1 T G 2: 87,022,564 (GRCm39) S178A possibly damaging Het
Or2a57 G A 6: 43,212,894 (GRCm39) M117I probably benign Het
Or52ab4 G T 7: 102,988,164 (GRCm39) R301L probably benign Het
Or5m10b A T 2: 85,699,526 (GRCm39) M197L probably benign Het
Rdh7 A G 10: 127,723,495 (GRCm39) I120T probably benign Het
Rsph3a G T 17: 8,171,403 (GRCm39) G173W probably damaging Het
Sec22b T C 3: 97,828,546 (GRCm39) F203S probably benign Het
Sulf2 C T 2: 165,916,736 (GRCm39) G867E probably benign Het
Tia1 A T 6: 86,395,906 (GRCm39) D90V probably benign Het
Tiam2 A G 17: 3,568,537 (GRCm39) D1561G probably benign Het
Trav9d-1 A G 14: 53,030,217 (GRCm39) Y107C probably damaging Het
Trim32 T C 4: 65,532,943 (GRCm39) V500A probably damaging Het
Ube2f G A 1: 91,181,989 (GRCm39) probably benign Het
Ulk4 C T 9: 121,086,144 (GRCm39) probably null Het
Zfp940 A G 7: 29,544,771 (GRCm39) F379L 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
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
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'- AATTATGCTCCCGCCATGTG -3'

Sequencing Primer
(F):5'- AAGAGTACATGTGCCTTCAAAAG -3'
(R):5'- TGGTTCTCAGTGAGCCCC -3'
Posted On 2020-10-20