Incidental Mutation 'R5558:Khdc4'
ID 436388
Institutional Source Beutler Lab
Gene Symbol Khdc4
Ensembl Gene ENSMUSG00000028060
Gene Name KH domain containing 4, pre-mRNA splicing factor
Synonyms 2810403A07Rik
MMRRC Submission 043115-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R5558 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 88593110-88620231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88600403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 164 (H164P)
Ref Sequence ENSEMBL: ENSMUSP00000142760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029696] [ENSMUST00000198042] [ENSMUST00000198078] [ENSMUST00000199684]
AlphaFold Q3TCX3
Predicted Effect probably damaging
Transcript: ENSMUST00000029696
AA Change: H164P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029696
Gene: ENSMUSG00000028060
AA Change: H164P

DomainStartEndE-ValueType
low complexity region 21 66 N/A INTRINSIC
Blast:KH 103 185 2e-28 BLAST
PDB:2YQR|A 229 340 6e-76 PDB
Blast:KH 233 319 1e-36 BLAST
SCOP:d1k1ga_ 233 327 4e-16 SMART
low complexity region 344 384 N/A INTRINSIC
low complexity region 425 436 N/A INTRINSIC
low complexity region 442 458 N/A INTRINSIC
low complexity region 499 510 N/A INTRINSIC
low complexity region 566 579 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197479
Predicted Effect probably damaging
Transcript: ENSMUST00000198042
AA Change: H164P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142773
Gene: ENSMUSG00000028060
AA Change: H164P

DomainStartEndE-ValueType
low complexity region 21 66 N/A INTRINSIC
Blast:KH 103 185 7e-29 BLAST
PDB:2YQR|A 229 340 2e-77 PDB
Blast:KH 233 319 2e-37 BLAST
SCOP:d1k1ga_ 233 327 3e-16 SMART
low complexity region 344 384 N/A INTRINSIC
low complexity region 425 436 N/A INTRINSIC
low complexity region 442 458 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198078
AA Change: H164P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142760
Gene: ENSMUSG00000028060
AA Change: H164P

DomainStartEndE-ValueType
low complexity region 21 66 N/A INTRINSIC
Blast:KH 103 185 5e-29 BLAST
PDB:2YQR|A 229 340 1e-77 PDB
Blast:KH 233 319 3e-37 BLAST
SCOP:d1k1ga_ 233 327 4e-17 SMART
low complexity region 410 421 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198589
Predicted Effect probably damaging
Transcript: ENSMUST00000199684
AA Change: H164P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142353
Gene: ENSMUSG00000028060
AA Change: H164P

DomainStartEndE-ValueType
low complexity region 21 66 N/A INTRINSIC
Blast:KH 103 185 7e-29 BLAST
PDB:2YQR|A 229 340 2e-77 PDB
Blast:KH 233 319 2e-37 BLAST
SCOP:d1k1ga_ 233 327 3e-16 SMART
low complexity region 344 384 N/A INTRINSIC
low complexity region 425 436 N/A INTRINSIC
low complexity region 442 458 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200364
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T C 9: 44,192,705 (GRCm39) K177E probably damaging Het
Acvr1 T C 2: 58,349,029 (GRCm39) T378A probably damaging Het
Agtpbp1 A G 13: 59,630,394 (GRCm39) V779A probably benign Het
Alms1 C T 6: 85,618,311 (GRCm39) Q2786* probably null Het
Arhgef28 A C 13: 98,097,968 (GRCm39) L882R probably damaging Het
Cbx2 A G 11: 118,919,775 (GRCm39) T447A probably benign Het
Ch25h A G 19: 34,451,863 (GRCm39) W222R probably damaging Het
Chsy3 T G 18: 59,309,469 (GRCm39) S241A probably damaging Het
Cyfip1 T C 7: 55,541,749 (GRCm39) S345P possibly damaging Het
Cyp4a30b C A 4: 115,316,063 (GRCm39) D291E probably damaging Het
Dcstamp A G 15: 39,622,936 (GRCm39) Y419C probably damaging Het
Eif3d G A 15: 77,846,047 (GRCm39) R359C probably damaging Het
Elavl4 C A 4: 110,063,800 (GRCm39) G267V probably benign Het
Gars1 T C 6: 55,042,592 (GRCm39) S442P probably damaging Het
Gas6 C T 8: 13,516,764 (GRCm39) R578Q probably null Het
H4c4 C A 13: 23,765,779 (GRCm39) N65K possibly damaging Het
Ifitm6 T C 7: 140,595,985 (GRCm39) I103V probably benign Het
Igsf5 T A 16: 96,187,731 (GRCm39) I241N possibly damaging Het
Iqce A G 5: 140,657,560 (GRCm39) probably null Het
Kif20b C A 19: 34,928,949 (GRCm39) Q1192K probably damaging Het
Lap3 A G 5: 45,662,093 (GRCm39) N298D probably benign Het
Lca5 A T 9: 83,283,796 (GRCm39) S246T probably damaging Het
Mrps5 G A 2: 127,444,355 (GRCm39) G330S probably damaging Het
Myh15 C T 16: 48,889,900 (GRCm39) R164C probably benign Het
Myo19 C G 11: 84,801,274 (GRCm39) P940R probably damaging Het
Or10j7 T C 1: 173,011,585 (GRCm39) R139G probably benign Het
Or5b12b T C 19: 12,861,751 (GRCm39) F169L probably benign Het
Pcdh10 A G 3: 45,338,603 (GRCm39) D920G probably damaging Het
Pgm5 A T 19: 24,801,815 (GRCm39) probably null Het
Phactr4 T C 4: 132,105,766 (GRCm39) E137G probably damaging Het
Pkn1 C T 8: 84,411,351 (GRCm39) V239M probably damaging Het
Plcz1 T A 6: 139,985,481 (GRCm39) D20V probably damaging Het
Prkca A T 11: 107,872,473 (GRCm39) I429N probably damaging Het
Ptk2 A T 15: 73,176,294 (GRCm39) Y251N probably damaging Het
R3hdm2 T C 10: 127,280,271 (GRCm39) F31S probably damaging Het
Rab11fip1 T A 8: 27,642,003 (GRCm39) E932V probably damaging Het
Rilp A G 11: 75,402,251 (GRCm39) Y250C probably damaging Het
Sclt1 A G 3: 41,616,025 (GRCm39) I474T probably benign Het
Slc14a2 T A 18: 78,202,381 (GRCm39) D583V possibly damaging Het
Slc30a4 A G 2: 122,528,903 (GRCm39) I324T probably damaging Het
Slc6a5 G A 7: 49,577,321 (GRCm39) V326I probably benign Het
Slco1c1 C T 6: 141,513,222 (GRCm39) T617I probably damaging Het
Sntg1 A G 1: 8,484,495 (GRCm39) S442P possibly damaging Het
Sys1 G T 2: 164,306,429 (GRCm39) A128S possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmed5 A G 5: 108,272,462 (GRCm39) I212T probably benign Het
Tnks T C 8: 35,432,819 (GRCm39) M1V probably null Het
Trpa1 T C 1: 14,968,492 (GRCm39) H452R probably damaging Het
Trpm3 T C 19: 22,955,937 (GRCm39) V1133A probably damaging Het
Ttn T A 2: 76,555,395 (GRCm39) I30537F probably damaging Het
Ush2a T C 1: 188,530,024 (GRCm39) V3271A possibly damaging Het
Utp20 C G 10: 88,587,329 (GRCm39) G2489R probably damaging Het
Vmn1r70 A T 7: 10,368,402 (GRCm39) S278C probably benign Het
Wdpcp G A 11: 21,661,732 (GRCm39) A335T probably benign Het
Zc3h18 G T 8: 123,113,659 (GRCm39) R217L probably damaging Het
Zfp384 ACAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGC 6: 125,013,472 (GRCm39) probably benign Het
Zfp955b C T 17: 33,521,161 (GRCm39) T210I possibly damaging Het
Other mutations in Khdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0085:Khdc4 UTSW 3 88,619,046 (GRCm39) missense probably damaging 0.99
R0271:Khdc4 UTSW 3 88,593,636 (GRCm39) splice site probably benign
R1160:Khdc4 UTSW 3 88,616,169 (GRCm39) missense probably damaging 0.99
R2348:Khdc4 UTSW 3 88,616,183 (GRCm39) missense probably benign 0.01
R3121:Khdc4 UTSW 3 88,596,599 (GRCm39) missense probably damaging 1.00
R3546:Khdc4 UTSW 3 88,600,443 (GRCm39) splice site probably benign
R3548:Khdc4 UTSW 3 88,600,443 (GRCm39) splice site probably benign
R4688:Khdc4 UTSW 3 88,593,824 (GRCm39) missense probably damaging 1.00
R5249:Khdc4 UTSW 3 88,604,032 (GRCm39) missense probably damaging 1.00
R5393:Khdc4 UTSW 3 88,603,913 (GRCm39) missense probably benign 0.08
R5579:Khdc4 UTSW 3 88,607,582 (GRCm39) missense probably benign
R5782:Khdc4 UTSW 3 88,618,985 (GRCm39) missense probably damaging 0.96
R5809:Khdc4 UTSW 3 88,616,192 (GRCm39) missense probably damaging 0.96
R6415:Khdc4 UTSW 3 88,607,279 (GRCm39) missense probably benign 0.25
R6566:Khdc4 UTSW 3 88,618,961 (GRCm39) missense probably damaging 0.99
R6765:Khdc4 UTSW 3 88,593,736 (GRCm39) missense probably damaging 1.00
R6939:Khdc4 UTSW 3 88,593,824 (GRCm39) missense probably damaging 1.00
R7248:Khdc4 UTSW 3 88,600,886 (GRCm39) missense probably damaging 1.00
R7311:Khdc4 UTSW 3 88,619,002 (GRCm39) missense probably damaging 0.96
R7852:Khdc4 UTSW 3 88,604,043 (GRCm39) missense probably benign 0.06
R8294:Khdc4 UTSW 3 88,603,915 (GRCm39) missense probably damaging 0.98
R8948:Khdc4 UTSW 3 88,617,219 (GRCm39) missense probably damaging 0.99
R8988:Khdc4 UTSW 3 88,607,286 (GRCm39) missense probably benign 0.00
R9053:Khdc4 UTSW 3 88,596,582 (GRCm39) missense probably damaging 1.00
R9221:Khdc4 UTSW 3 88,593,853 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTGCTAAGACTGCTAGGAATTGAG -3'
(R):5'- GAATGGACTAATGCTCAATGTACC -3'

Sequencing Primer
(F):5'- GGTCACAAAGTTGAGATCCTTCTGC -3'
(R):5'- AATATGCAGCTCCCATCC -3'
Posted On 2016-10-24