Incidental Mutation 'R4373:Nfib'
ID 326051
Institutional Source Beutler Lab
Gene Symbol Nfib
Ensembl Gene ENSMUSG00000008575
Gene Name nuclear factor I/B
Synonyms 6720429L07Rik, E030026I10Rik
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 82208410-82424988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82241895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 432 (V432A)
Ref Sequence ENSEMBL: ENSMUSP00000102869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050872] [ENSMUST00000064770] [ENSMUST00000107245] [ENSMUST00000107246] [ENSMUST00000107247] [ENSMUST00000107248]
AlphaFold P97863
Predicted Effect probably damaging
Transcript: ENSMUST00000050872
AA Change: V433A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
AA Change: V433A

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 damaging
Transcript: ENSMUST00000107245
AA Change: V432A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102865
Gene: ENSMUSG00000008575
AA Change: V432A

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
SMART Domains Protein: ENSMUSP00000102866
Gene: ENSMUSG00000008575

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: V432A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
AA Change: V432A

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: V432A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
AA Change: V432A

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 noncoding transcript
Transcript: ENSMUST00000140874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122918
Meta Mutation Damage Score 0.1251 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P 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
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
Predicted Primers PCR Primer
(F):5'- CCAGAACGTCCCTGTGTTTG -3'
(R):5'- ACATTGATCAGCTCCCAGC -3'

Sequencing Primer
(F):5'- GTGTTTGCCACCTTGGATCATATATC -3'
(R):5'- CAGCGCAGGCCTGAGAG -3'
Posted On 2015-07-06