Incidental Mutation 'R6260:Nfic'
ID 506633
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 044377-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.506) question?
Stock # R6260 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 81232025-81267753 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 81256351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 126 (C126*)
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
AA Change: C104*
SMART Domains Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: C104*

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
AA Change: C104*
SMART Domains Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
AA Change: C104*

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
AA Change: C104*
SMART Domains Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: C104*

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
AA Change: C95*
SMART Domains Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: C95*

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 noncoding transcript
Transcript: ENSMUST00000199973
Predicted Effect probably null
Transcript: ENSMUST00000221817
AA Change: C126*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,844,821 (GRCm39) N1514K probably damaging Het
Abcb4 G T 5: 8,984,219 (GRCm39) G650* probably null Het
Acsbg1 T A 9: 54,535,751 (GRCm39) probably null Het
Alms1 A T 6: 85,605,717 (GRCm39) K2456* probably null Het
Alppl2 A T 1: 87,016,184 (GRCm39) M225K probably damaging Het
Ank2 C T 3: 126,737,206 (GRCm39) V2806I probably benign Het
Atxn10 A T 15: 85,346,612 (GRCm39) I457F probably benign Het
Cad G T 5: 31,224,144 (GRCm39) M800I probably null Het
Carmil3 T A 14: 55,737,889 (GRCm39) L815Q probably damaging Het
Ccz1 A G 5: 143,940,859 (GRCm39) probably null Het
Cdc73 G A 1: 143,567,211 (GRCm39) T104I probably benign Het
Cfap52 A T 11: 67,829,780 (GRCm39) C330S possibly damaging Het
Clec16a C T 16: 10,512,712 (GRCm39) probably benign Het
Cntn3 A G 6: 102,254,178 (GRCm39) probably null Het
Crocc2 A G 1: 93,141,360 (GRCm39) K1171R possibly damaging Het
Ctsa T C 2: 164,676,281 (GRCm39) V86A probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddhd2 A G 8: 26,242,144 (GRCm39) F244L probably benign Het
Ddn A G 15: 98,703,735 (GRCm39) V519A possibly damaging Het
Dip2b G T 15: 100,060,583 (GRCm39) V253L probably benign Het
Dnah17 C A 11: 118,017,148 (GRCm39) W197C probably damaging Het
Dnah17 A T 11: 118,017,150 (GRCm39) W197R probably damaging Het
Dnah17 C T 11: 118,017,149 (GRCm39) W197* probably null Het
Ercc6 T A 14: 32,279,813 (GRCm39) D609E probably benign Het
Erg C A 16: 95,181,100 (GRCm39) R147L probably damaging Het
Fbxo41 A T 6: 85,455,537 (GRCm39) L549H probably damaging Het
Foxd4 A G 19: 24,876,968 (GRCm39) S411P probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Galntl6 T A 8: 58,337,515 (GRCm39) D135V probably damaging Het
Gm1043 G C 5: 37,331,816 (GRCm39) G832A probably benign Het
Gm21103 C T 14: 17,484,841 (GRCm39) E68K probably damaging Het
Gpam A G 19: 55,071,838 (GRCm39) V301A probably benign Het
H2-M10.1 T A 17: 36,634,994 (GRCm39) I304F unknown Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jak3 C A 8: 72,131,954 (GRCm39) Q177K probably benign Het
Kcnu1 G A 8: 26,341,919 (GRCm39) R88H probably damaging Het
Kng1 A T 16: 22,877,371 (GRCm39) I60F possibly damaging Het
Krt77 A T 15: 101,772,807 (GRCm39) Y257* probably null Het
Lcor A T 19: 41,570,809 (GRCm39) S1C probably null Het
Lcor G T 19: 41,570,810 (GRCm39) S1I possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map4k5 C A 12: 69,878,336 (GRCm39) R355L probably benign Het
Mefv C T 16: 3,530,898 (GRCm39) R498H probably benign Het
Mical3 A T 6: 120,985,991 (GRCm39) L150Q probably damaging Het
Mtcl1 T A 17: 66,650,536 (GRCm39) Q1340L probably damaging Het
Nisch T A 14: 30,899,085 (GRCm39) probably benign Het
Nt5dc3 A G 10: 86,647,395 (GRCm39) Y130C probably damaging Het
Or2ag1b A T 7: 106,288,079 (GRCm39) N286K probably damaging Het
Or4f15 C T 2: 111,814,396 (GRCm39) V8I probably benign Het
Or6c65 C A 10: 129,603,389 (GRCm39) T8K probably benign Het
Pcdhb12 T C 18: 37,569,892 (GRCm39) V346A probably benign Het
Pla2g4a A G 1: 149,733,238 (GRCm39) S504P probably benign Het
Plin2 G T 4: 86,575,526 (GRCm39) A341D probably damaging Het
Plxnb2 A T 15: 89,049,494 (GRCm39) I575N probably benign Het
Pnma8b T G 7: 16,680,158 (GRCm39) W381G probably benign Het
Psma8 A G 18: 14,854,324 (GRCm39) D68G probably damaging Het
Rcor3 G A 1: 191,808,559 (GRCm39) H207Y probably benign Het
Rwdd2b C A 16: 87,231,356 (GRCm39) G266V probably damaging Het
Ryr3 A G 2: 112,490,449 (GRCm39) F3795S probably damaging Het
Slc28a2b A T 2: 122,353,963 (GRCm39) I530F probably damaging Het
Sord T A 2: 122,089,613 (GRCm39) probably null Het
Spdl1 T A 11: 34,710,713 (GRCm39) N345I probably damaging Het
St8sia2 T A 7: 73,626,441 (GRCm39) R42S possibly damaging Het
Syt9 G T 7: 107,035,717 (GRCm39) V245F possibly damaging Het
Tbpl2 T A 2: 23,984,898 (GRCm39) N82I possibly damaging Het
Tcerg1 T A 18: 42,686,530 (GRCm39) Y696N probably damaging Het
Thsd7b A G 1: 129,595,655 (GRCm39) T492A probably benign Het
Timm13 A C 10: 80,736,135 (GRCm39) probably benign Het
Trdmt1 T A 2: 13,524,870 (GRCm39) Q195L probably benign Het
Ttc27 T A 17: 75,165,086 (GRCm39) V764D probably damaging Het
Ttc39d C A 17: 80,524,076 (GRCm39) S245* probably null Het
Ttc41 A G 10: 86,567,023 (GRCm39) E563G probably benign Het
Ttc41 A T 10: 86,569,571 (GRCm39) T650S probably benign Het
U2surp A C 9: 95,358,210 (GRCm39) L723R probably damaging Het
Ubqln3 G A 7: 103,791,524 (GRCm39) Q189* probably null Het
Vezf1 A G 11: 87,972,326 (GRCm39) N229S probably damaging Het
Vmn2r79 T A 7: 86,686,365 (GRCm39) M582K probably benign Het
Zfp518a A G 19: 40,902,567 (GRCm39) D832G probably benign Het
Zfyve28 T C 5: 34,356,216 (GRCm39) N762D probably damaging 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
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
R6982:Nfic UTSW 10 81,256,634 (GRCm39) critical splice acceptor site probably null
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'- TACAGGTCCAGCTCCTTGAC -3'
(R):5'- ACGAGAAGCGCATGTCCAAG -3'

Sequencing Primer
(F):5'- CCAATATGGTGCGGCTGC -3'
(R):5'- TCCAAGGACGAGGAGCGC -3'
Posted On 2018-03-15