Incidental Mutation 'R7055:Nfib'
ID547837
Institutional Source Beutler Lab
Gene Symbol Nfib
Ensembl Gene ENSMUSG00000008575
Gene Namenuclear factor I/B
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7055 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location82290173-82705750 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82330425 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 308 (D308E)
Ref Sequence ENSEMBL: ENSMUSP00000102866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050872] [ENSMUST00000064770] [ENSMUST00000107245] [ENSMUST00000107246] [ENSMUST00000107247] [ENSMUST00000107248]
Predicted Effect probably benign
Transcript: ENSMUST00000050872
AA Change: D309E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
AA Change: D309E

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
AA Change: D309E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000067629
Gene: ENSMUSG00000008575
AA Change: D309E

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
AA Change: D308E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102865
Gene: ENSMUSG00000008575
AA Change: D308E

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: D308E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102866
Gene: ENSMUSG00000008575
AA Change: D308E

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: D308E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
AA Change: D308E

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: D308E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
AA Change: D308E

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,226,221 S178P probably damaging Het
2610008E11Rik C T 10: 79,067,847 E212K probably damaging Het
Abcc4 A T 14: 118,594,785 L736* probably null Het
Acmsd A T 1: 127,753,833 M178L probably benign Het
Adpgk T A 9: 59,313,193 M266K possibly damaging Het
Aldh1b1 G A 4: 45,802,909 R149H possibly damaging Het
Aox2 A G 1: 58,299,768 T307A probably benign Het
C1galt1 T C 6: 7,866,585 Y144H probably damaging Het
Cabin1 G C 10: 75,743,283 Q440E probably benign Het
Casq2 A G 3: 102,142,245 S231G probably damaging Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,397,572 probably benign Het
Cdan1 A G 2: 120,727,861 I490T probably damaging Het
Cep170b T A 12: 112,735,715 V314E probably damaging Het
Col4a4 T C 1: 82,519,036 E413G unknown Het
Cyp3a25 A C 5: 145,992,991 F189L probably benign Het
Dido1 T A 2: 180,661,209 H1634L probably benign Het
Dnaja2 A C 8: 85,548,674 V156G probably benign Het
Dpy19l4 T C 4: 11,290,291 probably null Het
Eomes A T 9: 118,480,499 N240I possibly damaging Het
Fads6 A G 11: 115,285,403 F199L probably benign Het
Fbrs T C 7: 127,487,784 probably null Het
Fndc4 T C 5: 31,294,178 E153G probably benign Het
Fv1 TTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTC 4: 147,870,318 probably null Het
Fzr1 T C 10: 81,370,223 Y210C probably damaging Het
Gjc2 T A 11: 59,177,030 M209L unknown Het
Gpr33 A G 12: 52,024,253 M1T probably null Het
Gtf2a1 A T 12: 91,586,749 I28N possibly damaging Het
Igf2r A C 17: 12,704,323 Y1200D probably damaging Het
Ivd C T 2: 118,873,249 T212I probably damaging Het
Jag1 A G 2: 137,115,489 V101A probably benign Het
Kansl3 A T 1: 36,365,620 V83D possibly damaging Het
Krt81 T A 15: 101,461,125 I249F probably benign Het
Krtap21-1 G A 16: 89,403,703 S17L unknown Het
Macf1 A T 4: 123,409,196 H504Q probably benign Het
Map2 A G 1: 66,416,824 T1499A probably damaging Het
Map3k9 T C 12: 81,724,208 T892A probably damaging Het
Mcl1 G A 3: 95,659,799 V178I probably benign Het
Mrs2 T A 13: 25,004,954 M126L probably benign Het
Msantd1 C A 5: 34,917,661 N9K probably benign Het
Myh9 C T 15: 77,775,198 R116H probably damaging Het
Nme2 T A 11: 93,955,590 I11F probably damaging Het
Nmnat3 A G 9: 98,410,233 D111G probably benign Het
Olfr1164 T A 2: 88,093,701 L78F probably damaging Het
Papss2 T C 19: 32,664,427 W501R probably damaging Het
Parn A G 16: 13,626,134 I384T possibly damaging Het
Pcdhb18 A G 18: 37,490,811 D398G possibly damaging Het
Pdcl2 T C 5: 76,317,924 N102D probably benign Het
Pdzrn3 C A 6: 101,151,774 E644* probably null Het
Pi4ka T A 16: 17,317,015 probably benign Het
Polg2 A G 11: 106,777,214 F216L probably damaging Het
Prkcsh A G 9: 22,013,161 *522W probably null Het
Prkcz G T 4: 155,289,634 D108E probably benign Het
Pros1 T C 16: 62,928,102 V646A possibly damaging Het
Ptprc A G 1: 138,089,571 I483T probably damaging Het
Rabep2 T C 7: 126,445,313 I527T possibly damaging Het
Rad50 T C 11: 53,688,102 K543R probably benign Het
Samd4b A G 7: 28,404,033 I553T probably benign Het
Sbpl A T 17: 23,953,302 N214K unknown Het
Scgb2b11 C T 7: 32,210,482 E60K possibly damaging Het
Sgk3 G A 1: 9,886,059 E331K probably damaging Het
Snx6 A T 12: 54,784,079 L32Q probably damaging Het
Srgap3 T A 6: 112,746,963 Q512L probably damaging Het
Srsf12 A G 4: 33,226,157 D135G probably damaging Het
Steap4 A G 5: 7,976,858 T274A probably damaging Het
Svep1 A T 4: 58,064,275 V3236D probably benign Het
Svep1 A T 4: 58,120,642 F797Y probably benign Het
Tmem116 T C 5: 121,467,924 L113P probably damaging Het
Tnfrsf1b A G 4: 145,224,887 V161A probably damaging Het
Tnpo1 G T 13: 98,855,479 Q622K possibly damaging Het
Top1mt A G 15: 75,678,674 V28A probably benign Het
Trim25 T C 11: 88,999,924 S146P probably benign Het
Tuba3b A G 6: 145,621,209 D392G possibly damaging Het
Utrn C T 10: 12,747,921 R191Q probably benign Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Wdfy2 T A 14: 62,900,299 S84T probably benign Het
Zfp873 T A 10: 82,059,998 F225I probably damaging Het
Other mutations in Nfib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01839:Nfib APN 4 82310370 missense probably benign
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
R7162:Nfib UTSW 4 82350440 missense probably damaging 0.97
R7204:Nfib UTSW 4 82296815 splice site probably null
R7462:Nfib UTSW 4 82353589 missense probably benign 0.05
R7465:Nfib UTSW 4 82353521 critical splice donor site probably null
R7764:Nfib UTSW 4 82320494 missense possibly damaging 0.72
R7894:Nfib UTSW 4 82327793 missense probably benign 0.02
R7977:Nfib UTSW 4 82327793 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGTGGTCAAGAGGCCTTTC -3'
(R):5'- CTCAGAGTTTCTTTGACGGCAC -3'

Sequencing Primer
(F):5'- GGCCTTTCCTCTCTGCTTCAAAC -3'
(R):5'- GGCACTTTAGGTTAGCTTTAGCAAAG -3'
Posted On2019-05-13