Incidental Mutation 'R9443:Klhdc4'
ID 713748
Institutional Source Beutler Lab
Gene Symbol Klhdc4
Ensembl Gene ENSMUSG00000040263
Gene Name kelch domain containing 4
Synonyms G430025P05Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R9443 (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 122523765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 484 (S484P)
Ref Sequence ENSEMBL: ENSMUSP00000043439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045884] [ENSMUST00000127664] [ENSMUST00000167439] [ENSMUST00000174192] [ENSMUST00000174665] [ENSMUST00000174717]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045884
AA Change: S484P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: S484P

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 possibly damaging
Transcript: ENSMUST00000174192
AA Change: S427P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: S427P

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: S453P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: S453P

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 T C 3: 37,146,140 (GRCm39) Y503H probably benign Het
Adck1 T C 12: 88,338,550 (GRCm39) probably null Het
Afap1l1 T C 18: 61,879,859 (GRCm39) D337G probably damaging Het
Afg1l G A 10: 42,189,587 (GRCm39) T448M probably damaging Het
Aqp6 T C 15: 99,499,409 (GRCm39) S41P Het
Atad5 T G 11: 80,023,388 (GRCm39) V1500G probably benign Het
B3galt9 C T 2: 34,728,623 (GRCm39) Q141* probably null Het
Btbd18 T A 2: 84,497,524 (GRCm39) D387E probably benign Het
Catsperd A G 17: 56,969,720 (GRCm39) N605D possibly damaging Het
Ccdc24 C T 4: 117,728,355 (GRCm39) V102I probably benign Het
Cenpe T A 3: 134,976,609 (GRCm39) D2405E probably damaging Het
Cfap46 T C 7: 139,195,023 (GRCm39) D2249G Het
Chrm1 A T 19: 8,655,550 (GRCm39) Y85F possibly damaging Het
Clstn3 C T 6: 124,428,358 (GRCm39) G465S probably damaging Het
Col7a1 G A 9: 108,785,059 (GRCm39) G262D unknown Het
Copg2 T C 6: 30,750,578 (GRCm39) T736A probably benign Het
Coro2b T C 9: 62,333,080 (GRCm39) E435G probably benign Het
Cp A T 3: 20,033,083 (GRCm39) I637F possibly damaging Het
Cpne7 T C 8: 123,853,411 (GRCm39) F239L probably damaging Het
Cstdc2 C T 2: 148,689,878 (GRCm39) E92K probably damaging Het
Cul2 T A 18: 3,434,041 (GRCm39) Y679* probably null Het
Dhx8 T C 11: 101,655,740 (GRCm39) Y1158H probably damaging Het
Eda G T X: 99,019,775 (GRCm39) R130L unknown Het
Elp6 T A 9: 110,150,004 (GRCm39) V265D probably damaging Het
Eomes A G 9: 118,313,640 (GRCm39) T562A Het
Fam187b A T 7: 30,677,067 (GRCm39) E192V probably damaging Het
Foxi1 T C 11: 34,155,671 (GRCm39) T320A probably benign Het
Gga1 C T 15: 78,765,247 (GRCm39) T18I possibly damaging Het
Grik4 T A 9: 42,571,037 (GRCm39) M223L probably benign Het
Hdac7 T C 15: 97,700,352 (GRCm39) N594S probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Itpr3 T G 17: 27,324,523 (GRCm39) F1235C probably damaging Het
Kmt2c A G 5: 25,515,045 (GRCm39) S2933P probably damaging Het
Lama5 T A 2: 179,843,522 (GRCm39) H475L probably benign Het
Ly6g6f A G 17: 35,299,826 (GRCm39) L292P possibly damaging Het
Macf1 T A 4: 123,365,668 (GRCm39) Q3031L probably benign Het
Mbd5 T G 2: 49,146,712 (GRCm39) S307R probably damaging Het
Mertk T C 2: 128,604,029 (GRCm39) F388L probably benign Het
Mmp11 A G 10: 75,762,733 (GRCm39) F240S probably damaging Het
Mroh1 T A 15: 76,318,964 (GRCm39) F949I probably damaging Het
Mroh2b T C 15: 4,973,821 (GRCm39) L1113P probably damaging Het
Ndufv1 C A 19: 4,057,614 (GRCm39) A454S probably benign Het
Or13e8 A G 4: 43,696,591 (GRCm39) L194P probably damaging Het
Or56b2j T C 7: 104,352,821 (GRCm39) S16P probably benign Het
Or5d46 T A 2: 88,170,364 (GRCm39) W152R probably damaging Het
Osbpl1a C A 18: 13,031,244 (GRCm39) D329Y probably benign Het
Pcdh1 C A 18: 38,330,633 (GRCm39) R929L probably damaging Het
Phactr2 C T 10: 13,122,841 (GRCm39) R427K probably benign Het
Pip5k1c T C 10: 81,153,184 (GRCm39) Y670H probably damaging Het
Plbd1 T A 6: 136,611,555 (GRCm39) N241Y probably damaging Het
Pmvk C A 3: 89,374,956 (GRCm39) Q139K probably benign Het
Pramel30 T A 4: 144,059,678 (GRCm39) I463N possibly damaging Het
Rab3gap2 T A 1: 184,967,523 (GRCm39) C136S probably damaging Het
Rcor3 A G 1: 191,786,050 (GRCm39) V396A probably damaging Het
Rgs20 C A 1: 4,982,629 (GRCm39) E147* probably null Het
Rnf167 G T 11: 70,540,777 (GRCm39) L170F probably damaging Het
Scn9a T C 2: 66,395,553 (GRCm39) T164A probably damaging Het
Skic3 A G 13: 76,266,288 (GRCm39) Q210R probably benign Het
Slc52a3 A T 2: 151,846,299 (GRCm39) I87F probably benign Het
Sntn A T 14: 13,682,364 (GRCm38) M146L Het
Svep1 C T 4: 58,179,697 (GRCm39) R182H possibly damaging Het
Taar7f A G 10: 23,926,311 (GRCm39) I302V probably benign Het
Tm4sf20 T C 1: 82,746,090 (GRCm39) I17V probably benign Het
Traf1 T C 2: 34,836,748 (GRCm39) T270A probably benign Het
Trpm5 C T 7: 142,638,860 (GRCm39) E304K probably benign Het
Ttll8 T C 15: 88,809,863 (GRCm39) D311G possibly damaging Het
Unc79 T A 12: 103,037,035 (GRCm39) F608I probably damaging Het
Vmn2r11 A T 5: 109,195,159 (GRCm39) C722* probably null Het
Wdr7 A G 18: 63,853,407 (GRCm39) T36A probably damaging Het
Ybx2 C T 11: 69,831,188 (GRCm39) P261L Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp260 T C 7: 29,804,249 (GRCm39) S50P probably benign Het
Zfp319 A T 8: 96,054,922 (GRCm39) F427Y probably benign Het
Zfp369 T C 13: 65,444,347 (GRCm39) S497P possibly damaging 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
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
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'- ATGGCAACCTGCTTAGACCC -3'
(R):5'- TATGGCTGGAGTTAGTGCCC -3'

Sequencing Primer
(F):5'- CCTGCTTAGACCCACCCC -3'
(R):5'- TGGAGTTAGTGCCCACCAC -3'
Posted On 2022-06-15