Incidental Mutation 'R8212:Cfdp1'
ID 636211
Institutional Source Beutler Lab
Gene Symbol Cfdp1
Ensembl Gene ENSMUSG00000031954
Gene Name craniofacial development protein 1
Synonyms cp27, Bcnt, Bucentaur
MMRRC Submission 067635-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R8212 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 112495123-112580923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112571815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 31 (N31K)
Ref Sequence ENSEMBL: ENSMUSP00000034432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034432]
AlphaFold O88271
Predicted Effect probably damaging
Transcript: ENSMUST00000034432
AA Change: N31K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034432
Gene: ENSMUSG00000031954
AA Change: N31K

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 66 99 N/A INTRINSIC
Pfam:BCNT 217 291 5e-34 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,670,240 (GRCm39) I2369V probably benign Het
Ager G A 17: 34,819,586 (GRCm39) R368H possibly damaging Het
Arl2 G T 19: 6,187,596 (GRCm39) T84K probably damaging Het
Cfap126 A T 1: 170,953,630 (GRCm39) T67S probably damaging Het
Cfap45 A G 1: 172,369,067 (GRCm39) probably null Het
Clpx A G 9: 65,228,173 (GRCm39) T408A possibly damaging Het
Cobll1 T C 2: 64,932,424 (GRCm39) N526S probably benign Het
Cpne1 T C 2: 155,920,134 (GRCm39) D215G probably damaging Het
Cstf1 T C 2: 172,219,872 (GRCm39) S328P probably damaging Het
Cyp2a22 T C 7: 26,637,205 (GRCm39) E193G possibly damaging Het
Fam83c A G 2: 155,671,207 (GRCm39) F743L probably benign Het
Fn1 A G 1: 71,682,064 (GRCm39) I364T probably benign Het
Foxo3 T C 10: 42,072,991 (GRCm39) M509V possibly damaging Het
Galnt6 T C 15: 100,591,308 (GRCm39) T599A probably benign Het
Gm5114 A G 7: 39,060,676 (GRCm39) S58P probably benign Het
Gria4 G A 9: 4,480,242 (GRCm39) A402V probably benign Het
Heatr5a C A 12: 51,946,012 (GRCm39) A1200S probably benign Het
Nlrp5 A T 7: 23,116,762 (GRCm39) D162V probably benign Het
Or14j6 T C 17: 38,215,148 (GRCm39) V237A probably benign Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pcf11 G A 7: 92,308,706 (GRCm39) R589C probably damaging Het
Pkhd1l1 A G 15: 44,362,696 (GRCm39) D574G probably benign Het
Plb1 T C 5: 32,422,250 (GRCm39) S68P probably damaging Het
Plekhs1 A G 19: 56,460,188 (GRCm39) M95V probably damaging Het
Polr2h T C 16: 20,536,746 (GRCm39) probably null Het
Ppef2 T A 5: 92,376,524 (GRCm39) I668L possibly damaging Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rwdd1 A G 10: 33,878,523 (GRCm39) V104A probably damaging Het
Slc2a9 G T 5: 38,637,402 (GRCm39) H25N probably benign Het
Slc36a3 T A 11: 55,015,907 (GRCm39) I416F probably damaging Het
Sppl2b T A 10: 80,701,193 (GRCm39) V356D probably damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Tln1 T C 4: 43,555,918 (GRCm39) T99A probably damaging Het
Tm9sf3 A T 19: 41,229,074 (GRCm39) M243K probably damaging Het
Trnt1 T C 6: 106,746,832 (GRCm39) Y6H probably benign Het
Ttn T A 2: 76,612,626 (GRCm39) H17151L probably benign Het
Ube2o A G 11: 116,439,624 (GRCm39) V182A possibly damaging Het
Zfhx2 G T 14: 55,310,373 (GRCm39) D724E possibly damaging Het
Zfp616 T A 11: 73,976,569 (GRCm39) V946D probably damaging Het
Other mutations in Cfdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Cfdp1 APN 8 112,567,110 (GRCm39) missense probably benign 0.00
IGL02754:Cfdp1 APN 8 112,580,766 (GRCm39) splice site probably benign
R0060:Cfdp1 UTSW 8 112,566,986 (GRCm39) splice site probably benign
R1900:Cfdp1 UTSW 8 112,495,361 (GRCm39) nonsense probably null
R4273:Cfdp1 UTSW 8 112,495,417 (GRCm39) missense probably damaging 1.00
R4661:Cfdp1 UTSW 8 112,557,577 (GRCm39) missense probably benign 0.19
R4662:Cfdp1 UTSW 8 112,557,577 (GRCm39) missense probably benign 0.19
R4715:Cfdp1 UTSW 8 112,557,523 (GRCm39) missense probably benign 0.02
R5265:Cfdp1 UTSW 8 112,557,617 (GRCm39) missense probably benign 0.30
R5388:Cfdp1 UTSW 8 112,495,384 (GRCm39) missense probably damaging 1.00
R7917:Cfdp1 UTSW 8 112,567,033 (GRCm39) missense possibly damaging 0.76
R9621:Cfdp1 UTSW 8 112,571,807 (GRCm39) missense probably damaging 0.99
R9760:Cfdp1 UTSW 8 112,495,415 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CTGTGCTATAGCTCTCACACA -3'
(R):5'- TGCTCTGGTCAGCCCCAC -3'

Sequencing Primer
(F):5'- GGGATGACATAGGCCTTTAATCCC -3'
(R):5'- GCTGTCTTCAGATGCACAAG -3'
Posted On 2020-07-13