Incidental Mutation 'R3548:Khdc4'
ID 268293
Institutional Source Beutler Lab
Gene Symbol Khdc4
Ensembl Gene ENSMUSG00000028060
Gene Name KH domain containing 4, pre-mRNA splicing factor
Synonyms 2810403A07Rik
MMRRC Submission 040667-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R3548 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88593110-88620231 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 88600443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029696] [ENSMUST00000198042] [ENSMUST00000198078] [ENSMUST00000199684]
AlphaFold Q3TCX3
Predicted Effect probably benign
Transcript: ENSMUST00000029696
SMART Domains Protein: ENSMUSP00000029696
Gene: ENSMUSG00000028060

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 benign
Transcript: ENSMUST00000198042
SMART Domains Protein: ENSMUSP00000142773
Gene: ENSMUSG00000028060

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
SMART Domains Protein: ENSMUSP00000142760
Gene: ENSMUSG00000028060

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 noncoding transcript
Transcript: ENSMUST00000200364
Predicted Effect probably benign
Transcript: ENSMUST00000199684
SMART Domains Protein: ENSMUSP00000142353
Gene: ENSMUSG00000028060

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.8%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph C A 13: 19,287,129 (GRCm39) H279Q probably damaging Het
Ankrd28 A G 14: 31,437,217 (GRCm39) L646S probably benign Het
Bmal1 A T 7: 112,912,752 (GRCm39) I610F probably damaging Het
Celf3 T G 3: 94,395,845 (GRCm39) C304G probably damaging Het
Chrnb2 T A 3: 89,668,898 (GRCm39) Y139F probably benign Het
Clcc1 T A 3: 108,575,429 (GRCm39) C169S probably benign Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Cr2 A T 1: 194,838,196 (GRCm39) C1089* probably null Het
Dnah10 A T 5: 124,824,694 (GRCm39) I617F possibly damaging Het
F12 T C 13: 55,565,950 (GRCm39) N132D probably benign Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Frs3 T G 17: 48,014,561 (GRCm39) I418S probably damaging Het
Gpr149 A T 3: 62,502,549 (GRCm39) C436S probably benign Het
Igsf10 C A 3: 59,243,935 (GRCm39) R133L probably damaging Het
Il17rb A G 14: 29,730,729 (GRCm39) probably null Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Mtus2 C A 5: 148,232,316 (GRCm39) H120Q probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nes C A 3: 87,880,429 (GRCm39) probably benign Het
Nid2 T A 14: 19,813,779 (GRCm39) Y195N probably damaging Het
Nlrp9c A T 7: 26,070,876 (GRCm39) C790S probably damaging Het
Or5b12 A T 19: 12,897,031 (GRCm39) I214N probably benign Het
Phf24 T G 4: 42,937,879 (GRCm39) Y85* probably null Het
Pycr1 T C 11: 120,533,072 (GRCm39) S33G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sirt2 A G 7: 28,467,096 (GRCm39) E19G probably damaging Het
Sort1 T C 3: 108,245,225 (GRCm39) V359A possibly damaging Het
Tnni1 A G 1: 135,732,791 (GRCm39) probably null Het
Ube2q1 T A 3: 89,688,383 (GRCm39) M183K probably damaging Het
Vmn1r50 T A 6: 90,084,476 (GRCm39) F74I probably 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
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
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'- AAAGGCAGGTTCTCTATGGGC -3'
(R):5'- CACAGCTCTGTCACTAGAGTAG -3'

Sequencing Primer
(F):5'- GGCTTTAGGGAATCAAATTCAGGTC -3'
(R):5'- GCTCTGTCACTAGAGTAGTTACATTG -3'
Posted On 2015-02-19