Incidental Mutation 'R5388:Cfdp1'
ID425418
Institutional Source Beutler Lab
Gene Symbol Cfdp1
Ensembl Gene ENSMUSG00000031954
Gene Namecraniofacial development protein 1
Synonymscp27, Bucentaur, Bcnt
MMRRC Submission 042960-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #R5388 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location111768491-111854291 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111768752 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 278 (D278G)
Ref Sequence ENSEMBL: ENSMUSP00000034432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034432]
Predicted Effect probably damaging
Transcript: ENSMUST00000034432
AA Change: D278G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034432
Gene: ENSMUSG00000031954
AA Change: D278G

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
Meta Mutation Damage Score 0.9065 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,283,727 Q4483R probably damaging Het
Abca16 T C 7: 120,540,746 probably null Het
Acap2 C A 16: 31,109,725 C475F probably damaging Het
Ace C A 11: 105,988,458 P603Q possibly damaging Het
Adamts20 C G 15: 94,345,778 V657L possibly damaging Het
Antxr2 A G 5: 97,977,599 probably null Het
Atp6v1b2 G A 8: 69,101,437 V89I probably benign Het
Cacna1e G A 1: 154,477,796 P676L probably damaging Het
Camsap3 A T 8: 3,604,276 I649F probably damaging Het
Camta1 G T 4: 151,075,238 S490R probably damaging Het
Celsr1 A G 15: 85,925,518 I2221T probably damaging Het
Cfd A T 10: 79,892,125 D164V probably damaging Het
Cntn6 A T 6: 104,832,562 L519F probably damaging Het
Col4a4 C T 1: 82,493,591 G681E unknown Het
Cybrd1 T C 2: 71,137,645 probably null Het
Cyp2e1 T C 7: 140,763,993 L48P probably damaging Het
Ep400 G A 5: 110,701,728 T1409I unknown Het
Epp13 T C 7: 6,266,347 probably null Het
Exosc7 A T 9: 123,118,907 D47V probably damaging Het
Fgr T C 4: 132,995,031 F204L probably damaging Het
Gm10100 G A 10: 77,726,726 V81M probably benign Het
Gm12367 T C 4: 35,235,690 noncoding transcript Het
Gm15922 T C 7: 3,738,857 T175A possibly damaging Het
Grxcr1 C A 5: 68,166,195 T272K probably damaging Het
Kcna5 C T 6: 126,534,896 D90N probably benign Het
Kdm5b T A 1: 134,608,897 Y618* probably null Het
Lama5 T A 2: 180,190,746 H1670L possibly damaging Het
Mtus2 C T 5: 148,306,708 Q113* probably null Het
Ncam1 A C 9: 49,544,754 D521E probably benign Het
Nkapl T C 13: 21,467,570 H291R possibly damaging Het
Nlrp1b T G 11: 71,172,141 N695H probably damaging Het
Npc1l1 T A 11: 6,214,733 Q1105H probably damaging Het
Paxip1 C G 5: 27,781,455 probably benign Het
Pign A T 1: 105,655,970 W136R probably damaging Het
Pkn3 T A 2: 30,081,074 S222T probably damaging Het
Polr3a T C 14: 24,454,941 I1084V possibly damaging Het
Ppfibp1 T A 6: 146,996,840 I98N probably damaging Het
Ppfibp1 T G 6: 147,016,330 S484A probably damaging Het
Ppp1r7 T C 1: 93,352,590 F127L probably damaging Het
Pramel1 T C 4: 143,397,384 Y210H probably benign Het
Rad21l C T 2: 151,653,483 V427I probably benign Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 139,779,850 probably benign Het
Rnf225 A G 7: 12,928,005 D37G probably damaging Het
Smpd2 A G 10: 41,487,971 probably null Het
Tmem38b C T 4: 53,859,945 R242W probably benign Het
Topaz1 A T 9: 122,774,093 K1035I possibly damaging Het
Trhr T C 15: 44,197,477 I131T possibly damaging Het
Usp1 A G 4: 98,931,057 D252G probably benign Het
Usp14 C T 18: 10,018,023 E90K probably damaging Het
Yme1l1 T G 2: 23,162,557 D74E probably benign Het
Ythdc2 T A 18: 44,857,025 L732Q possibly damaging Het
Zbbx G T 3: 75,083,670 A289D probably damaging Het
Zfhx3 G A 8: 108,946,814 V1499I possibly damaging Het
Zfp622 T C 15: 25,996,199 V184A possibly damaging Het
Other mutations in Cfdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Cfdp1 APN 8 111840478 missense probably benign 0.00
IGL02754:Cfdp1 APN 8 111854134 splice site probably benign
R0060:Cfdp1 UTSW 8 111840354 splice site probably benign
R1900:Cfdp1 UTSW 8 111768729 nonsense probably null
R4273:Cfdp1 UTSW 8 111768785 missense probably damaging 1.00
R4661:Cfdp1 UTSW 8 111830945 missense probably benign 0.19
R4662:Cfdp1 UTSW 8 111830945 missense probably benign 0.19
R4715:Cfdp1 UTSW 8 111830891 missense probably benign 0.02
R5265:Cfdp1 UTSW 8 111830985 missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AGTCTCCAGGAAAGGCTGAC -3'
(R):5'- GAGCATCCTGAGTAGTCACCTG -3'

Sequencing Primer
(F):5'- CTGACTTTAAAGAGGCTTGTGACC -3'
(R):5'- TGAGTAGTCACCTGAACACCAG -3'
Posted On2016-08-04