Incidental Mutation 'R7852:Khdc4'
ID 606974
Institutional Source Beutler Lab
Gene Symbol Khdc4
Ensembl Gene ENSMUSG00000028060
Gene Name KH domain containing 4, pre-mRNA splicing factor
Synonyms 2810403A07Rik
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R7852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 88593110-88620231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88604043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 287 (S287T)
Ref Sequence ENSEMBL: ENSMUSP00000029696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029696] [ENSMUST00000198042] [ENSMUST00000198078] [ENSMUST00000199684]
AlphaFold Q3TCX3
Predicted Effect probably benign
Transcript: ENSMUST00000029696
AA Change: S287T

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029696
Gene: ENSMUSG00000028060
AA Change: S287T

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 possibly damaging
Transcript: ENSMUST00000198042
AA Change: S287T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142773
Gene: ENSMUSG00000028060
AA Change: S287T

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 benign
Transcript: ENSMUST00000198078
AA Change: S287T

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142760
Gene: ENSMUSG00000028060
AA Change: S287T

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 possibly damaging
Transcript: ENSMUST00000199684
AA Change: S287T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142353
Gene: ENSMUSG00000028060
AA Change: S287T

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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agmo C T 12: 37,292,051 (GRCm39) P4L possibly damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Atp6v1b1 A T 6: 83,729,452 (GRCm39) M121L possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Cfhr1 A C 1: 139,484,165 (GRCm39) V117G probably damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dpysl2 T C 14: 67,100,092 (GRCm39) N48S probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Kif12 G C 4: 63,086,226 (GRCm39) P374A probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Lrfn2 G A 17: 49,376,972 (GRCm39) V18I possibly damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Patl2 C T 2: 122,009,590 (GRCm39) probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown 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
R5558:Khdc4 UTSW 3 88,600,403 (GRCm39) missense probably damaging 0.98
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
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'- CCTTACAGATGCATTATGTTCAAGAT -3'
(R):5'- AATTCCTCATGTAGGTTTTAGGTTG -3'

Sequencing Primer
(F):5'- TGTTCAAGATAAACTATTTGTGGGTC -3'
(R):5'- GTCCCACATTTGCATGCAAGG -3'
Posted On 2019-12-20