Incidental Mutation 'IGL01839:Nfib'
ID155050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfib
Ensembl Gene ENSMUSG00000008575
Gene Namenuclear factor I/B
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01839
Quality Score
Status
Chromosome4
Chromosomal Location82290173-82705750 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82310370 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 505 (M505V)
Ref Sequence ENSEMBL: ENSMUSP00000102869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050872] [ENSMUST00000064770] [ENSMUST00000107245] [ENSMUST00000107246] [ENSMUST00000107247] [ENSMUST00000107248]
Predicted Effect probably benign
Transcript: ENSMUST00000050872
AA Change: M506V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
AA Change: M506V

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 7 47 4.2e-29 PFAM
DWA 68 176 1.65e-19 SMART
Pfam:CTF_NFI 209 506 5.7e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064770
SMART Domains Protein: ENSMUSP00000067629
Gene: ENSMUSG00000008575

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 4 47 3.7e-30 PFAM
DWA 68 176 1.65e-19 SMART
Pfam:CTF_NFI 209 419 2.4e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107245
SMART Domains Protein: ENSMUSP00000102865
Gene: ENSMUSG00000008575

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 3 46 2.9e-30 PFAM
DWA 67 175 1.65e-19 SMART
Pfam:CTF_NFI 208 493 1.6e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107246
AA Change: M422V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102866
Gene: ENSMUSG00000008575
AA Change: M422V

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 3 46 5.9e-30 PFAM
DWA 67 175 1.65e-19 SMART
Pfam:CTF_NFI 208 462 3.7e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107247
AA Change: M496V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
AA Change: M496V

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 3 46 7.5e-31 PFAM
DWA 67 175 1.65e-19 SMART
Pfam:CTF_NFI 208 492 2.5e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107248
AA Change: M505V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
AA Change: M505V

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 3 46 6.9e-30 PFAM
DWA 67 175 1.65e-19 SMART
Pfam:CTF_NFI 208 501 1.5e-125 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene causes severe lung defects and neonatal death from respiratory failure. Homozygotes for a null allele show callosal agenesis and abnormalities in forebrain, basilar pons, hippocampus, and submandibular gland development, as well as lung maturation defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T A 12: 113,544,622 L205Q probably benign Het
Cadps G T 14: 12,467,184 probably benign Het
Cfap69 G A 5: 5,626,027 Q223* probably null Het
Col11a2 G A 17: 34,064,082 probably benign Het
Col3a1 T C 1: 45,311,830 V28A unknown Het
Cyp17a1 A G 19: 46,670,671 I177T possibly damaging Het
Exoc2 A G 13: 30,906,799 L274P probably damaging Het
Fastkd3 A G 13: 68,584,852 R431G probably benign Het
Fat3 T C 9: 15,997,872 N2278S probably damaging Het
Ift172 G T 5: 31,266,350 A756E probably damaging Het
Igf2r T C 17: 12,705,022 Y1087C probably damaging Het
Khdrbs2 T C 1: 32,414,862 probably benign Het
Kmt5a A G 5: 124,451,354 K205R probably benign Het
Lrrc45 A T 11: 120,717,149 probably null Het
Ltbp2 T C 12: 84,793,658 S1045G possibly damaging Het
Oit3 C T 10: 59,429,496 V316I probably damaging Het
Olfr1475 T C 19: 13,479,440 T253A probably benign Het
Olfr397 T A 11: 73,964,611 M1K probably null Het
Pcdhb5 A T 18: 37,321,449 N294I probably damaging Het
Pld4 A T 12: 112,765,079 H222L probably damaging Het
Sacs T C 14: 61,183,945 probably benign Het
Sgms2 T C 3: 131,342,102 K41R possibly damaging Het
Slc17a2 T C 13: 23,812,685 S58P possibly damaging Het
Slc22a4 A T 11: 53,996,077 S280T probably damaging Het
Slc7a15 C T 12: 8,539,365 G61S probably damaging Het
Trrap A G 5: 144,821,875 K2190E probably damaging Het
Ttn C A 2: 76,814,358 Q13017H probably damaging Het
Other mutations in Nfib
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0220:Nfib UTSW 4 82296776 missense probably damaging 0.99
R0309:Nfib UTSW 4 82296737 missense probably damaging 1.00
R0352:Nfib UTSW 4 82504717 intron probably benign
R0466:Nfib UTSW 4 82498538 missense probably damaging 1.00
R1643:Nfib UTSW 4 82498679 missense probably damaging 1.00
R1737:Nfib UTSW 4 82498589 missense probably damaging 0.99
R1860:Nfib UTSW 4 82323680 missense probably damaging 1.00
R2069:Nfib UTSW 4 82498615 missense probably damaging 1.00
R2103:Nfib UTSW 4 82330408 missense possibly damaging 0.57
R3429:Nfib UTSW 4 82498295 missense possibly damaging 0.75
R3430:Nfib UTSW 4 82498295 missense possibly damaging 0.75
R3755:Nfib UTSW 4 82323699 missense probably damaging 1.00
R4373:Nfib UTSW 4 82323658 missense probably damaging 0.97
R4433:Nfib UTSW 4 82498435 missense probably damaging 1.00
R4575:Nfib UTSW 4 82296811 missense probably damaging 0.99
R4578:Nfib UTSW 4 82296811 missense probably damaging 0.99
R4719:Nfib UTSW 4 82504730 critical splice donor site probably null
R4752:Nfib UTSW 4 82296779 missense probably damaging 0.97
R4953:Nfib UTSW 4 82353571 missense probably benign 0.20
R5533:Nfib UTSW 4 82359767 missense probably damaging 0.99
R6583:Nfib UTSW 4 82498471 missense probably damaging 1.00
R7055:Nfib UTSW 4 82330425 missense probably benign 0.03
R7162:Nfib UTSW 4 82350440 missense probably damaging 0.97
Posted On2014-02-04