Incidental Mutation 'IGL01839:Nfib'
ID 155050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfib
Ensembl Gene ENSMUSG00000008575
Gene Name nuclear factor I/B
Synonyms 6720429L07Rik, E030026I10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01839
Quality Score
Status
Chromosome 4
Chromosomal Location 82208410-82424988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82228607 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P97863
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: 113,508,242 (GRCm39) L205Q probably benign Het
Cadps G T 14: 12,467,184 (GRCm38) probably benign Het
Cfap69 G A 5: 5,676,027 (GRCm39) Q223* probably null Het
Col11a2 G A 17: 34,283,056 (GRCm39) probably benign Het
Col3a1 T C 1: 45,350,990 (GRCm39) V28A unknown Het
Cyp17a1 A G 19: 46,659,110 (GRCm39) I177T possibly damaging Het
Exoc2 A G 13: 31,090,782 (GRCm39) L274P probably damaging Het
Fastkd3 A G 13: 68,732,971 (GRCm39) R431G probably benign Het
Fat3 T C 9: 15,909,168 (GRCm39) N2278S probably damaging Het
Ift172 G T 5: 31,423,694 (GRCm39) A756E probably damaging Het
Igf2r T C 17: 12,923,909 (GRCm39) Y1087C probably damaging Het
Khdrbs2 T C 1: 32,453,943 (GRCm39) probably benign Het
Kmt5a A G 5: 124,589,417 (GRCm39) K205R probably benign Het
Lrrc45 A T 11: 120,607,975 (GRCm39) probably null Het
Ltbp2 T C 12: 84,840,432 (GRCm39) S1045G possibly damaging Het
Oit3 C T 10: 59,265,318 (GRCm39) V316I probably damaging Het
Or1e1f T A 11: 73,855,437 (GRCm39) M1K probably null Het
Or5b119 T C 19: 13,456,804 (GRCm39) T253A probably benign Het
Pcdhb5 A T 18: 37,454,502 (GRCm39) N294I probably damaging Het
Pld4 A T 12: 112,731,513 (GRCm39) H222L probably damaging Het
Sacs T C 14: 61,421,394 (GRCm39) probably benign Het
Sgms2 T C 3: 131,135,751 (GRCm39) K41R possibly damaging Het
Slc22a4 A T 11: 53,886,903 (GRCm39) S280T probably damaging Het
Slc34a1 T C 13: 23,996,668 (GRCm39) S58P possibly damaging Het
Slc7a15 C T 12: 8,589,365 (GRCm39) G61S probably damaging Het
Trrap A G 5: 144,758,685 (GRCm39) K2190E probably damaging Het
Ttn C A 2: 76,644,702 (GRCm39) Q13017H probably damaging Het
Other mutations in Nfib
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0220:Nfib UTSW 4 82,215,013 (GRCm39) missense probably damaging 0.99
R0309:Nfib UTSW 4 82,214,974 (GRCm39) missense probably damaging 1.00
R0352:Nfib UTSW 4 82,422,954 (GRCm39) intron probably benign
R0466:Nfib UTSW 4 82,416,775 (GRCm39) missense probably damaging 1.00
R1643:Nfib UTSW 4 82,416,916 (GRCm39) missense probably damaging 1.00
R1737:Nfib UTSW 4 82,416,826 (GRCm39) missense probably damaging 0.99
R1860:Nfib UTSW 4 82,241,917 (GRCm39) missense probably damaging 1.00
R2069:Nfib UTSW 4 82,416,852 (GRCm39) missense probably damaging 1.00
R2103:Nfib UTSW 4 82,248,645 (GRCm39) missense possibly damaging 0.57
R3429:Nfib UTSW 4 82,416,532 (GRCm39) missense possibly damaging 0.75
R3430:Nfib UTSW 4 82,416,532 (GRCm39) missense possibly damaging 0.75
R3755:Nfib UTSW 4 82,241,936 (GRCm39) missense probably damaging 1.00
R4373:Nfib UTSW 4 82,241,895 (GRCm39) missense probably damaging 0.97
R4433:Nfib UTSW 4 82,416,672 (GRCm39) missense probably damaging 1.00
R4575:Nfib UTSW 4 82,215,048 (GRCm39) missense probably damaging 0.99
R4578:Nfib UTSW 4 82,215,048 (GRCm39) missense probably damaging 0.99
R4719:Nfib UTSW 4 82,422,967 (GRCm39) critical splice donor site probably null
R4752:Nfib UTSW 4 82,215,016 (GRCm39) missense probably damaging 0.97
R4953:Nfib UTSW 4 82,271,808 (GRCm39) missense probably benign 0.20
R5533:Nfib UTSW 4 82,278,004 (GRCm39) missense probably damaging 0.99
R6583:Nfib UTSW 4 82,416,708 (GRCm39) missense probably damaging 1.00
R7055:Nfib UTSW 4 82,248,662 (GRCm39) missense probably benign 0.03
R7162:Nfib UTSW 4 82,268,677 (GRCm39) missense probably damaging 0.97
R7204:Nfib UTSW 4 82,215,052 (GRCm39) splice site probably null
R7462:Nfib UTSW 4 82,271,826 (GRCm39) missense probably benign 0.05
R7465:Nfib UTSW 4 82,271,758 (GRCm39) critical splice donor site probably null
R7764:Nfib UTSW 4 82,238,731 (GRCm39) missense possibly damaging 0.72
R7894:Nfib UTSW 4 82,246,030 (GRCm39) missense probably benign 0.02
R9080:Nfib UTSW 4 82,623,754 (GRCm39) missense
R9141:Nfib UTSW 4 82,416,529 (GRCm39) missense probably damaging 1.00
R9426:Nfib UTSW 4 82,416,529 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04