Incidental Mutation 'R9426:Nfib'
ID 712617
Institutional Source Beutler Lab
Gene Symbol Nfib
Ensembl Gene ENSMUSG00000008575
Gene Name nuclear factor I/B
Synonyms 6720429L07Rik, E030026I10Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9426 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 82208410-82424988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82416529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 170 (T170P)
Ref Sequence ENSEMBL: ENSMUSP00000052863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050872] [ENSMUST00000064770] [ENSMUST00000107245] [ENSMUST00000107246] [ENSMUST00000107247] [ENSMUST00000107248] [ENSMUST00000155821]
AlphaFold P97863
Predicted Effect probably damaging
Transcript: ENSMUST00000050872
AA Change: T170P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
AA Change: T170P

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 damaging
Transcript: ENSMUST00000064770
AA Change: T170P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067629
Gene: ENSMUSG00000008575
AA Change: T170P

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 damaging
Transcript: ENSMUST00000107245
AA Change: T169P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102865
Gene: ENSMUSG00000008575
AA Change: T169P

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 damaging
Transcript: ENSMUST00000107246
AA Change: T169P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102866
Gene: ENSMUSG00000008575
AA Change: T169P

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 damaging
Transcript: ENSMUST00000107247
AA Change: T169P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
AA Change: T169P

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 damaging
Transcript: ENSMUST00000107248
AA Change: T169P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
AA Change: T169P

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
Predicted Effect probably benign
Transcript: ENSMUST00000155821
SMART Domains Protein: ENSMUSP00000123169
Gene: ENSMUSG00000008575

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 20 62 2.8e-28 PFAM
DWA 83 175 1.06e-6 SMART
Meta Mutation Damage Score 0.1077 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,851,264 (GRCm39) D2159G possibly damaging Het
Adamts8 A G 9: 30,864,721 (GRCm39) Y404C possibly damaging Het
Adprhl1 A G 8: 13,274,034 (GRCm39) F908S possibly damaging Het
Arhgef16 A C 4: 154,366,300 (GRCm39) L489R probably damaging Het
Asmt G A X: 169,110,199 (GRCm39) G236E probably damaging Het
Ces2e A G 8: 105,656,220 (GRCm39) Y177C probably damaging Het
Cfap43 A G 19: 47,814,237 (GRCm39) I199T probably damaging Het
Chac1 T A 2: 119,183,914 (GRCm39) F172Y possibly damaging Het
Cldnd2 A T 7: 43,092,688 (GRCm39) I160F possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Coq10b C G 1: 55,106,719 (GRCm39) L175V possibly damaging Het
Cpne6 T C 14: 55,751,176 (GRCm39) probably null Het
Dnai4 A T 4: 102,906,743 (GRCm39) I690N probably damaging Het
Eif2b3 C A 4: 116,923,578 (GRCm39) Y264* probably null Het
Fcgbpl1 A T 7: 27,843,281 (GRCm39) H723L possibly damaging Het
Fhod1 C T 8: 106,056,490 (GRCm39) R1100Q probably benign Het
Hao1 T A 2: 134,347,555 (GRCm39) H250L probably benign Het
Has3 A G 8: 107,600,823 (GRCm39) Y95C probably damaging Het
Hoxc10 A T 15: 102,879,289 (GRCm39) K270* probably null Het
Kcnq5 A G 1: 21,473,118 (GRCm39) F710L probably benign Het
Knl1 C T 2: 118,899,979 (GRCm39) T560I possibly damaging Het
Ltbp1 C T 17: 75,598,309 (GRCm39) R597W possibly damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Optn T A 2: 5,059,485 (GRCm39) E11V possibly damaging Het
Or4d2b A T 11: 87,780,056 (GRCm39) L222Q probably damaging Het
Phf3 A T 1: 30,870,625 (GRCm39) L141* probably null Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prkcg C T 7: 3,375,975 (GRCm39) S540F probably damaging Het
Ptbp1 T A 10: 79,694,897 (GRCm39) I75N probably damaging Het
R3hdm1 T C 1: 128,164,212 (GRCm39) L1042P probably damaging Het
Scmh1 T C 4: 120,362,556 (GRCm39) V264A probably benign Het
Sec23a A G 12: 59,053,890 (GRCm39) V36A probably benign Het
Senp2 A G 16: 21,828,491 (GRCm39) S34G probably damaging Het
Serpina3a A G 12: 104,087,649 (GRCm39) N191D probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smchd1 C T 17: 71,672,125 (GRCm39) S1643N probably benign Het
Snrk T A 9: 121,986,326 (GRCm39) Y232N probably damaging Het
Spata31h1 T A 10: 82,126,610 (GRCm39) K2133N probably damaging Het
Spmip3 T A 1: 177,570,834 (GRCm39) L56* probably null Het
St6galnac6 T C 2: 32,505,094 (GRCm39) I202T probably damaging Het
Stab2 T C 10: 86,704,911 (GRCm39) K1819R probably damaging Het
Strn3 T C 12: 51,694,873 (GRCm39) T297A probably damaging Het
Sult1b1 T A 5: 87,665,280 (GRCm39) E218V probably damaging Het
Tcp10c T C 17: 13,584,463 (GRCm39) S275P probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Urb2 T G 8: 124,755,285 (GRCm39) L331V probably damaging Het
Zfp592 A T 7: 80,674,205 (GRCm39) T390S probably damaging Het
Other mutations in Nfib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01839:Nfib APN 4 82,228,607 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- ATCTCCATGGCTCCCACATG -3'
(R):5'- TCCAATCCAGACCAGAAGGG -3'

Sequencing Primer
(F):5'- TGGACCTGGAGCACTACTG -3'
(R):5'- GTAAGATTAGGAGGATCGACTGCCTG -3'
Posted On 2022-05-16