Incidental Mutation 'R6982:Nfic'
ID 542743
Institutional Source Beutler Lab
Gene Symbol Nfic
Ensembl Gene ENSMUSG00000055053
Gene Name nuclear factor I/C
Synonyms 1500041O16Rik, NF1-C, nuclear factor 1-C2, 1110019L22Rik
MMRRC Submission 045383-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.506) question?
Stock # R6982 (G1)
Quality Score 180.009
Status Validated
Chromosome 10
Chromosomal Location 81232025-81267753 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 81256634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020461] [ENSMUST00000078185] [ENSMUST00000105321] [ENSMUST00000117966] [ENSMUST00000221817]
AlphaFold P70255
Predicted Effect probably null
Transcript: ENSMUST00000020461
SMART Domains Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 7 47 4.6e-30 PFAM
DWA 68 176 5.77e-24 SMART
Pfam:CTF_NFI 217 428 2e-107 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000078185
SMART Domains Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 4 47 9.5e-31 PFAM
DWA 68 176 5.77e-24 SMART
Pfam:CTF_NFI 217 323 1.4e-52 PFAM
Pfam:CTF_NFI 316 387 1.7e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105321
SMART Domains Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 4 47 8e-31 PFAM
DWA 68 176 5.77e-24 SMART
Pfam:CTF_NFI 217 426 5.2e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117966
SMART Domains Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 1 38 1.3e-27 PFAM
DWA 59 167 5.77e-24 SMART
Pfam:CTF_NFI 208 421 1.9e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000221817
Meta Mutation Damage Score 0.9593 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a targeted null allele have abnormal incisor and molar root development, show reduced alveolar bone formation, and exhibit impaired feeding leading to severe runting and premature death when reared on standard laboratory chow. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,916,639 (GRCm39) probably null Het
Adamtsl3 C A 7: 82,164,271 (GRCm39) P362H probably damaging Het
Ambra1 G A 2: 91,747,818 (GRCm39) V1065I probably damaging Het
Ankrd66 T C 17: 43,849,926 (GRCm39) T79A probably damaging Het
Ano2 G A 6: 125,969,856 (GRCm39) R724H probably benign Het
Bmp8a A G 4: 123,218,934 (GRCm39) L158P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cilp T C 9: 65,187,087 (GRCm39) Y1061H probably damaging Het
Clybl G A 14: 122,639,359 (GRCm39) G308R probably damaging Het
Cntnap5c C T 17: 58,399,247 (GRCm39) P367S possibly damaging Het
Col20a1 T C 2: 180,638,499 (GRCm39) V371A probably benign Het
Col24a1 G T 3: 145,020,807 (GRCm39) G393* probably null Het
Dnah12 A G 14: 26,521,033 (GRCm39) probably null Het
Dnah8 T A 17: 30,986,899 (GRCm39) S3183T probably benign Het
Dph2 A T 4: 117,746,993 (GRCm39) I435N probably benign Het
Fam3c G T 6: 22,322,300 (GRCm39) A107D probably damaging Het
Fezf2 G T 14: 12,343,645 (GRCm38) Q367K probably damaging Het
Gbp2 A G 3: 142,335,846 (GRCm39) D182G probably damaging Het
Gpr162 T A 6: 124,837,919 (GRCm39) I244F probably damaging Het
Jakmip1 A T 5: 37,282,285 (GRCm39) N159I probably damaging Het
Jkampl A T 6: 73,446,527 (GRCm39) Y7* probably null Het
Kdm4a A T 4: 118,010,636 (GRCm39) probably null Het
Klf5 A G 14: 99,550,671 (GRCm39) H416R probably damaging Het
Lrrc63 A G 14: 75,322,211 (GRCm39) V631A probably benign Het
Man1a T C 10: 53,950,819 (GRCm39) E101G possibly damaging Het
Msantd4 T A 9: 4,384,061 (GRCm39) N127K possibly damaging Het
Myo3b A T 2: 70,256,409 (GRCm39) E1248D probably benign Het
Ncapd2 A T 6: 125,153,699 (GRCm39) I672N probably damaging Het
Nr1h3 A G 2: 91,021,104 (GRCm39) S228P probably damaging Het
Or8g32 T C 9: 39,305,618 (GRCm39) I174T probably damaging Het
Pccb A T 9: 100,905,349 (GRCm39) probably null Het
Pcmtd1 T G 1: 7,217,906 (GRCm39) V118G probably damaging Het
Pkhd1l1 A T 15: 44,429,664 (GRCm39) N3294I probably damaging Het
Plscr4 A G 9: 92,364,796 (GRCm39) T74A probably benign Het
Rasa2 A T 9: 96,442,803 (GRCm39) I540N probably damaging Het
Serpina3j C A 12: 104,283,556 (GRCm39) T218K probably benign Het
Slc16a4 A G 3: 107,206,589 (GRCm39) D173G probably benign Het
Slc19a2 T C 1: 164,084,428 (GRCm39) L106P possibly damaging Het
Slc22a19 C T 19: 7,660,334 (GRCm39) V359M probably benign Het
Slc22a7 T A 17: 46,745,563 (GRCm39) M323L probably benign Het
Spata21 A T 4: 140,824,184 (GRCm39) N149I possibly damaging Het
Spink5 G A 18: 44,110,792 (GRCm39) G121D probably damaging Het
Spink5 T C 18: 44,143,109 (GRCm39) probably null Het
Ssbp4 T C 8: 71,060,815 (GRCm39) S6G possibly damaging Het
Sytl2 T C 7: 90,045,772 (GRCm39) S641P probably damaging Het
Tcf3 A T 10: 80,253,384 (GRCm39) F215I probably damaging Het
Tmem150c C A 5: 100,240,680 (GRCm39) D61Y probably benign Het
Ttc7 T A 17: 87,614,437 (GRCm39) F201I probably damaging Het
Tyw3 T C 3: 154,285,867 (GRCm39) I208V probably benign Het
Vmn1r202 T C 13: 22,685,917 (GRCm39) T167A probably benign Het
Vmn1r83 A T 7: 12,055,763 (GRCm39) L98Q probably damaging Het
Vmn2r95 T C 17: 18,672,323 (GRCm39) Y687H probably damaging Het
Wdr59 A T 8: 112,187,445 (GRCm39) F783L probably benign Het
Zfhx4 A G 3: 5,468,890 (GRCm39) Y3016C probably damaging Het
Zfp518b T C 5: 38,830,248 (GRCm39) T586A probably benign Het
Other mutations in Nfic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Nfic APN 10 81,244,054 (GRCm39) missense possibly damaging 0.94
IGL01486:Nfic APN 10 81,243,478 (GRCm39) splice site probably null
IGL01784:Nfic APN 10 81,241,982 (GRCm39) missense possibly damaging 0.70
IGL02053:Nfic APN 10 81,256,385 (GRCm39) missense probably damaging 1.00
IGL03128:Nfic APN 10 81,242,025 (GRCm39) missense probably benign 0.21
sterb UTSW 10 81,256,634 (GRCm39) critical splice acceptor site probably null
Stronger UTSW 10 81,256,334 (GRCm39) missense probably damaging 1.00
Taller UTSW 10 81,241,921 (GRCm39) critical splice donor site probably null
R0113:Nfic UTSW 10 81,256,419 (GRCm39) missense probably damaging 1.00
R1468:Nfic UTSW 10 81,256,414 (GRCm39) missense probably damaging 1.00
R1468:Nfic UTSW 10 81,256,414 (GRCm39) missense probably damaging 1.00
R1807:Nfic UTSW 10 81,240,819 (GRCm39) missense probably benign 0.21
R1872:Nfic UTSW 10 81,256,518 (GRCm39) missense possibly damaging 0.89
R2295:Nfic UTSW 10 81,256,365 (GRCm39) missense probably damaging 1.00
R2324:Nfic UTSW 10 81,241,921 (GRCm39) critical splice donor site probably null
R5992:Nfic UTSW 10 81,256,581 (GRCm39) missense probably damaging 1.00
R6260:Nfic UTSW 10 81,256,351 (GRCm39) nonsense probably null
R6972:Nfic UTSW 10 81,256,191 (GRCm39) missense probably benign 0.00
R6973:Nfic UTSW 10 81,256,191 (GRCm39) missense probably benign 0.00
R7158:Nfic UTSW 10 81,256,439 (GRCm39) missense probably damaging 1.00
R7682:Nfic UTSW 10 81,256,334 (GRCm39) missense probably damaging 1.00
R8858:Nfic UTSW 10 81,262,965 (GRCm39) intron probably benign
R9498:Nfic UTSW 10 81,256,502 (GRCm39) missense probably damaging 1.00
X0065:Nfic UTSW 10 81,262,932 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTACGAAGTCTTCACGGCAC -3'
(R):5'- GGTCTGTGTTCACCTAGGTC -3'

Sequencing Primer
(F):5'- AAGTCTTCACGGCACTCGGG -3'
(R):5'- CTCAGTTTCCTTATGTGGGCAACAG -3'
Posted On 2018-11-28