Incidental Mutation 'R4719:Nfib'
ID 386348
Institutional Source Beutler Lab
Gene Symbol Nfib
Ensembl Gene ENSMUSG00000008575
Gene Name nuclear factor I/B
Synonyms 6720429L07Rik, E030026I10Rik
MMRRC Submission 041957-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4719 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 82208410-82424988 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 82422967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050872] [ENSMUST00000064770] [ENSMUST00000107245] [ENSMUST00000107246] [ENSMUST00000107247] [ENSMUST00000107247] [ENSMUST00000107248] [ENSMUST00000155821]
AlphaFold P97863
Predicted Effect probably null
Transcript: ENSMUST00000050872
SMART Domains Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575

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 null
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 null
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 null
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 null
Transcript: ENSMUST00000107247
SMART Domains Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575

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 null
Transcript: ENSMUST00000107247
SMART Domains Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575

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 null
Transcript: ENSMUST00000107248
SMART Domains Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575

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: ENSMUST00000135024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139835
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 0.9501 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (76/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,089,971 (GRCm39) Y971C probably damaging Het
Actr5 T A 2: 158,468,433 (GRCm39) S188T probably damaging Het
Adamtsl4 A G 3: 95,586,896 (GRCm39) probably null Het
Agbl2 A G 2: 90,645,733 (GRCm39) N822S probably benign Het
Ankdd1b T A 13: 96,554,255 (GRCm39) probably benign Het
Arhgef40 C T 14: 52,242,395 (GRCm39) probably benign Het
Art5 A G 7: 101,747,701 (GRCm39) probably null Het
Atpsckmt T G 15: 31,608,243 (GRCm39) V98G probably damaging Het
Cacna1s T C 1: 136,046,390 (GRCm39) probably benign Het
Car9 G A 4: 43,508,616 (GRCm39) W42* probably null Het
Cdh20 T C 1: 104,862,035 (GRCm39) Y72H probably damaging Het
Ces1g T C 8: 94,043,718 (GRCm39) D407G possibly damaging Het
Cngb3 T A 4: 19,309,562 (GRCm39) D73E probably benign Het
Col6a4 A T 9: 105,945,451 (GRCm39) F888I probably damaging Het
Dgat2 T C 7: 98,807,504 (GRCm39) D222G probably benign Het
Dscaml1 T C 9: 45,583,993 (GRCm39) M486T probably benign Het
Faim2 C T 15: 99,425,460 (GRCm39) probably null Het
Fance T C 17: 28,537,293 (GRCm39) probably benign Het
Fancm G T 12: 65,168,480 (GRCm39) M1614I possibly damaging Het
Fcrl5 A T 3: 87,351,496 (GRCm39) N248I probably damaging Het
Foxo3 G A 10: 42,073,774 (GRCm39) R29W probably damaging Het
Gabbr2 A G 4: 46,718,797 (GRCm39) Y74H probably damaging Het
Gatd1 A C 7: 140,990,981 (GRCm39) D55E probably benign Het
Gpr152 C A 19: 4,193,223 (GRCm39) Q255K possibly damaging Het
Havcr1 A G 11: 46,643,268 (GRCm39) T63A probably benign Het
Hltf T C 3: 20,118,865 (GRCm39) probably null Het
Ifit3b A T 19: 34,590,030 (GRCm39) Q402L probably damaging Het
Ints3 A G 3: 90,322,828 (GRCm39) L134S probably benign Het
Kcna10 A G 3: 107,102,217 (GRCm39) T283A probably benign Het
Kmt2e A C 5: 23,697,313 (GRCm39) R590S probably damaging Het
Lefty1 A T 1: 180,765,277 (GRCm39) N282Y probably benign Het
Loxl4 T A 19: 42,596,030 (GRCm39) Y141F probably benign Het
Lrrn2 T C 1: 132,866,915 (GRCm39) V660A probably benign Het
Lyst T C 13: 13,824,935 (GRCm39) S1517P probably benign Het
Mcoln2 A G 3: 145,881,468 (GRCm39) H208R probably benign Het
Mdga2 C T 12: 66,517,775 (GRCm39) probably benign Het
Mpp2 T A 11: 101,955,259 (GRCm39) E122V possibly damaging Het
Mrgprb5 T C 7: 47,818,526 (GRCm39) N70D probably damaging Het
Muc5ac A T 7: 141,343,500 (GRCm39) E37D possibly damaging Het
Nbeal1 T A 1: 60,274,722 (GRCm39) probably null Het
Ncoa6 T C 2: 155,233,081 (GRCm39) probably benign Het
Nostrin G T 2: 68,975,156 (GRCm39) G24* probably null Het
Nudc A G 4: 133,260,576 (GRCm39) Y293H probably damaging Het
Or51a42 T A 7: 103,707,940 (GRCm39) N290Y probably damaging Het
Pcmtd1 T A 1: 7,225,325 (GRCm39) Y41* probably null Het
Pigt T C 2: 164,343,544 (GRCm39) L340P probably damaging Het
Pomgnt1 T C 4: 116,012,972 (GRCm39) Y420H probably damaging Het
Pramel6 C T 2: 87,341,096 (GRCm39) T476I probably benign Het
Ptprn2 T A 12: 116,788,016 (GRCm39) H118Q possibly damaging Het
Rasl10a G A 11: 5,008,517 (GRCm39) S71N probably benign Het
Rnf213 A G 11: 119,310,893 (GRCm39) I804V probably benign Het
Rps4l-ps T C 7: 114,526,537 (GRCm39) noncoding transcript Het
Sash1 T A 10: 8,605,477 (GRCm39) H971L probably benign Het
Secisbp2 T A 13: 51,806,768 (GRCm39) F54L possibly damaging Het
Senp1 A T 15: 97,954,731 (GRCm39) H484Q probably benign Het
Slc12a1 T C 2: 124,995,913 (GRCm39) I22T possibly damaging Het
Slc25a36 A G 9: 96,972,172 (GRCm39) probably benign Het
Srcap T A 7: 127,140,731 (GRCm39) S1443T probably benign Het
Sv2c T C 13: 96,123,319 (GRCm39) T385A probably benign Het
Tas2r131 T A 6: 132,933,936 (GRCm39) H291L probably damaging Het
Thbs3 A G 3: 89,124,147 (GRCm39) D80G probably damaging Het
Tnxb C T 17: 34,908,394 (GRCm39) S1349L probably damaging Het
Toporsl A G 4: 52,611,996 (GRCm39) R630G probably benign Het
Vmn1r43 C A 6: 89,846,837 (GRCm39) M216I probably benign Het
Wdr17 T A 8: 55,092,911 (GRCm39) E1068D probably benign Het
Wnt10a G A 1: 74,842,762 (GRCm39) V413I probably damaging Het
Zfp141 T C 7: 42,126,111 (GRCm39) probably null Het
Zfp169 T C 13: 48,643,634 (GRCm39) I498V probably benign 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
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'- AGTCCATCTACAGACGCTCC -3'
(R):5'- GTTGCGAAGTTGCGGTGAAC -3'

Sequencing Primer
(F):5'- AATCTCCTTAGGGGCGGACAG -3'
(R):5'- GGTGAACCGGCGCAGTG -3'
Posted On 2016-05-18