Incidental Mutation 'IGL00481:Nfic'
ID4690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfic
Ensembl Gene ENSMUSG00000055053
Gene Namenuclear factor I/C
Synonymsnuclear factor 1-C2, 1110019L22Rik, NF1-C, 1500041O16Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.475) question?
Stock #IGL00481
Quality Score
Status
Chromosome10
Chromosomal Location81396186-81455635 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 81408220 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 240 (V240E)
Ref Sequence ENSEMBL: ENSMUSP00000100958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020461] [ENSMUST00000078185] [ENSMUST00000105321] [ENSMUST00000117966] [ENSMUST00000221817]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020461
AA Change: V240E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: V240E

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 possibly damaging
Transcript: ENSMUST00000078185
AA Change: V240E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
AA Change: V240E

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 possibly damaging
Transcript: ENSMUST00000105321
AA Change: V240E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: V240E

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 possibly damaging
Transcript: ENSMUST00000117966
AA Change: V231E

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: V231E

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 benign
Transcript: ENSMUST00000140916
SMART Domains Protein: ENSMUSP00000114469
Gene: ENSMUSG00000055053

DomainStartEndE-ValueType
Pfam:CTF_NFI 1 33 5.9e-12 PFAM
Pfam:CTF_NFI 29 93 1.3e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156260
Predicted Effect possibly damaging
Transcript: ENSMUST00000221817
AA Change: V262E

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,755 L234P probably damaging Het
9230110C19Rik T C 9: 8,042,431 Y57C probably damaging Het
Abca13 T C 11: 9,290,969 L944P probably damaging Het
Akap13 A G 7: 75,723,895 S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 Y261H probably damaging Het
Arap2 A T 5: 62,635,962 N1380K probably damaging Het
Arntl2 T A 6: 146,809,666 M56K probably benign Het
Barx2 T C 9: 31,846,845 I266V unknown Het
BC034090 C T 1: 155,232,521 R360H probably benign Het
Ccnb2 T C 9: 70,418,907 K52E probably damaging Het
Ccp110 G A 7: 118,729,997 V868I possibly damaging Het
Cyld G T 8: 88,707,290 V236F probably damaging Het
Dst T C 1: 34,169,329 probably benign Het
Ehmt1 G T 2: 24,838,818 A637E possibly damaging Het
Erlin1 G T 19: 44,069,319 Y22* probably null Het
Ezh1 A T 11: 101,199,302 M539K possibly damaging Het
Fam160b1 A G 19: 57,381,345 E440G probably benign Het
Fancc A T 13: 63,400,245 I80N probably damaging Het
Fat1 G A 8: 45,050,940 S4447N probably benign Het
Frem3 A G 8: 80,668,810 Q1822R possibly damaging Het
Iqgap1 C T 7: 80,759,844 V248I probably benign Het
Itch T C 2: 155,213,023 I749T probably damaging Het
Kcna10 T A 3: 107,195,514 M487K probably benign Het
Krt83 A T 15: 101,488,211 L223Q probably benign Het
Mtmr2 T C 9: 13,785,916 I84T probably benign Het
Myocd G A 11: 65,187,154 T477M probably damaging Het
Olfr463 A G 11: 87,893,621 I101T possibly damaging Het
Prkdc A T 16: 15,790,466 Y3044F probably benign Het
Prkg1 A G 19: 30,571,622 I636T probably benign Het
Ptpru A G 4: 131,808,235 V477A probably benign Het
Rab7b T A 1: 131,698,591 M119K possibly damaging Het
Sec61a1 T C 6: 88,506,940 probably benign Het
Sectm1b A G 11: 121,055,973 V32A probably benign Het
Shroom2 A G X: 152,623,223 S1034P probably benign Het
Sipa1l3 A T 7: 29,386,108 I688N probably damaging Het
Slc24a1 T C 9: 64,928,019 Y942C probably damaging Het
Smg1 C T 7: 118,210,794 R139K possibly damaging Het
Stt3b G A 9: 115,251,847 T574I probably benign Het
Thoc2 A G X: 41,879,891 I76T possibly damaging Het
Tpm3 C T 3: 90,087,717 T180M probably damaging Het
Uqcrfs1 C A 13: 30,540,925 V211F probably benign Het
Usp47 A G 7: 112,074,783 S418G probably benign Het
Usp5 T C 6: 124,829,353 T15A probably benign Het
Vps13c T C 9: 67,860,865 L122P probably damaging Het
Zfp677 A T 17: 21,397,668 E329V probably benign Het
Zfyve16 A T 13: 92,516,538 N846K possibly damaging Het
Zp1 G T 19: 10,918,777 P195T probably damaging Het
Other mutations in Nfic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Nfic APN 10 81407644 splice site probably null
IGL01784:Nfic APN 10 81406148 missense possibly damaging 0.70
IGL02053:Nfic APN 10 81420551 missense probably damaging 1.00
IGL03128:Nfic APN 10 81406191 missense probably benign 0.21
sterb UTSW 10 81420800 critical splice acceptor site probably null
Stronger UTSW 10 81420500 missense probably damaging 1.00
Taller UTSW 10 81406087 critical splice donor site probably null
R0113:Nfic UTSW 10 81420585 missense probably damaging 1.00
R1468:Nfic UTSW 10 81420580 missense probably damaging 1.00
R1468:Nfic UTSW 10 81420580 missense probably damaging 1.00
R1807:Nfic UTSW 10 81404985 missense probably benign 0.21
R1872:Nfic UTSW 10 81420684 missense possibly damaging 0.89
R2295:Nfic UTSW 10 81420531 missense probably damaging 1.00
R2324:Nfic UTSW 10 81406087 critical splice donor site probably null
R5992:Nfic UTSW 10 81420747 missense probably damaging 1.00
R6260:Nfic UTSW 10 81420517 nonsense probably null
R6972:Nfic UTSW 10 81420357 missense probably benign 0.00
R6973:Nfic UTSW 10 81420357 missense probably benign 0.00
R6982:Nfic UTSW 10 81420800 critical splice acceptor site probably null
R7158:Nfic UTSW 10 81420605 missense probably damaging 1.00
R7682:Nfic UTSW 10 81420500 missense probably damaging 1.00
X0065:Nfic UTSW 10 81427098 missense probably benign 0.02
Posted On2012-04-20