Incidental Mutation 'R1241:Nfix'
ID 152000
Institutional Source Beutler Lab
Gene Symbol Nfix
Ensembl Gene ENSMUSG00000001911
Gene Name nuclear factor I/X
Synonyms
MMRRC Submission 039308-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R1241 (G1)
Quality Score 173
Status Validated
Chromosome 8
Chromosomal Location 85431341-85527086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85453155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 300 (R300C)
Ref Sequence ENSEMBL: ENSMUSP00000115691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076715] [ENSMUST00000098571] [ENSMUST00000099070] [ENSMUST00000109762] [ENSMUST00000109764] [ENSMUST00000126806]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000076715
AA Change: R300C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076005
Gene: ENSMUSG00000001911
AA Change: R300C

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 3 46 4.1e-30 PFAM
DWA 67 175 1.86e-18 SMART
low complexity region 188 199 N/A INTRINSIC
Pfam:CTF_NFI 213 322 7.4e-32 PFAM
Pfam:CTF_NFI 313 396 3.8e-19 PFAM
Predicted Effect silent
Transcript: ENSMUST00000098571
SMART Domains Protein: ENSMUSP00000096170
Gene: ENSMUSG00000074203

DomainStartEndE-ValueType
low complexity region 21 31 N/A INTRINSIC
low complexity region 34 51 N/A INTRINSIC
low complexity region 73 85 N/A INTRINSIC
low complexity region 91 103 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099070
AA Change: R300C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096669
Gene: ENSMUSG00000001911
AA Change: R300C

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 3 46 4.7e-30 PFAM
DWA 67 175 1.86e-18 SMART
low complexity region 188 199 N/A INTRINSIC
Pfam:CTF_NFI 213 437 2.7e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109762
AA Change: R291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105384
Gene: ENSMUSG00000001911
AA Change: R291C

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 1 38 1.1e-27 PFAM
DWA 59 167 1.86e-18 SMART
low complexity region 180 191 N/A INTRINSIC
Pfam:CTF_NFI 205 312 5.4e-32 PFAM
Pfam:CTF_NFI 305 387 3.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109764
AA Change: R292C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105386
Gene: ENSMUSG00000001911
AA Change: R292C

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 1 38 1e-28 PFAM
DWA 59 167 1.86e-18 SMART
low complexity region 180 191 N/A INTRINSIC
Pfam:CTF_NFI 205 494 9.8e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126806
AA Change: R300C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115691
Gene: ENSMUSG00000001911
AA Change: R300C

DomainStartEndE-ValueType
Pfam:NfI_DNAbd_pre-N 3 46 7.1e-31 PFAM
DWA 67 175 1.86e-18 SMART
low complexity region 188 199 N/A INTRINSIC
Pfam:CTF_NFI 213 488 1.5e-83 PFAM
Meta Mutation Damage Score 0.3011 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a mutation in this gene display postnatal lethality, hydrocephalus, partial agenesis of the corpus callosum, deformation of the spine due to delayed vertebral body ossification, degeneration of intervertebral disks, decreased mineralization and impaired endochondral ossification. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
9030619P08Rik A C 15: 75,301,846 (GRCm39) noncoding transcript Het
Aldh1l2 T C 10: 83,331,889 (GRCm39) I639V probably benign Het
Ambra1 T C 2: 91,601,241 (GRCm39) probably benign Het
Ap5z1 T C 5: 142,455,869 (GRCm39) Y299H probably damaging Het
Atp6v1b1 A T 6: 83,733,526 (GRCm39) probably benign Het
Atr G A 9: 95,832,689 (GRCm39) V2574I probably benign Het
Atxn1l T A 8: 110,459,612 (GRCm39) T217S probably benign Het
Ccdc85a A G 11: 28,346,150 (GRCm39) S89P probably benign Het
Ccn5 T A 2: 163,670,997 (GRCm39) M168K unknown Het
Cd209e A T 8: 3,899,124 (GRCm39) I196N probably damaging Het
Cdhr4 A G 9: 107,872,495 (GRCm39) S247G probably benign Het
Cntn6 A T 6: 104,809,470 (GRCm39) I502F probably damaging Het
Crisp4 T C 1: 18,193,018 (GRCm39) Y233C probably damaging Het
Ctsb C A 14: 63,376,553 (GRCm39) T261N probably benign Het
Ctsk T C 3: 95,408,185 (GRCm39) F14L probably benign Het
Dchs1 T C 7: 105,407,385 (GRCm39) I2110V probably damaging Het
Dennd5b A G 6: 148,969,988 (GRCm39) M155T probably benign Het
Echdc3 T C 2: 6,217,611 (GRCm39) D54G probably benign Het
Egln3 G A 12: 54,228,479 (GRCm39) T209I probably damaging Het
Fbn1 A C 2: 125,214,447 (GRCm39) probably benign Het
Fkbp15 A T 4: 62,222,846 (GRCm39) S1018T possibly damaging Het
Flnb T C 14: 7,896,503 (GRCm38) I898T probably benign Het
Flt1 T A 5: 147,536,456 (GRCm39) Y795F probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fryl T C 5: 73,267,614 (GRCm39) E417G probably damaging Het
Fryl A G 5: 73,222,268 (GRCm39) probably benign Het
Gcnt3 T C 9: 69,941,615 (GRCm39) I318V probably benign Het
Gm11437 T A 11: 84,055,454 (GRCm39) H54L possibly damaging Het
Huwe1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA X: 150,690,044 (GRCm39) probably benign Het
Jarid2 G A 13: 45,038,368 (GRCm39) probably benign Het
Kif5b A T 18: 6,214,044 (GRCm39) V653E probably benign Het
Kmt2b A G 7: 30,274,365 (GRCm39) V2113A probably damaging Het
Knl1 C T 2: 118,903,054 (GRCm39) T1585I probably benign Het
Mlxipl T A 5: 135,161,572 (GRCm39) M497K probably benign Het
Mre11a T A 9: 14,710,935 (GRCm39) W210R probably damaging Het
Mrps22 A G 9: 98,476,748 (GRCm39) V207A probably benign Het
Myo15a A G 11: 60,390,256 (GRCm39) I2111V possibly damaging Het
Myo1a C T 10: 127,555,148 (GRCm39) P838L probably benign Het
Nbea T A 3: 55,965,461 (GRCm39) H484L probably damaging Het
Nlrp2 T A 7: 5,331,430 (GRCm39) D322V probably damaging Het
Nrcam T C 12: 44,636,947 (GRCm39) C1057R probably damaging Het
Ntsr1 T C 2: 180,142,394 (GRCm39) S62P probably damaging Het
Nudt18 A G 14: 70,816,867 (GRCm39) H157R probably benign Het
Or10s1 C A 9: 39,986,192 (GRCm39) N200K probably damaging Het
Or5g25 T A 2: 85,477,904 (GRCm39) T254S probably damaging Het
Sidt2 T C 9: 45,857,002 (GRCm39) T435A probably damaging Het
Snx27 T C 3: 94,427,540 (GRCm39) T312A probably benign Het
Srebf2 T C 15: 82,061,720 (GRCm39) S429P probably damaging Het
Suclg2 A G 6: 95,474,563 (GRCm39) probably benign Het
Tchh A T 3: 93,352,279 (GRCm39) E573V unknown Het
Tdrd1 A G 19: 56,850,192 (GRCm39) T985A probably benign Het
Ttc7b A G 12: 100,369,698 (GRCm39) I357T possibly damaging Het
Ttn T C 2: 76,626,008 (GRCm39) E13271G probably damaging Het
Usp13 A G 3: 32,969,857 (GRCm39) E661G probably damaging Het
Vasp T G 7: 18,992,958 (GRCm39) probably benign Het
Vmn2r109 A T 17: 20,775,503 (GRCm39) Y75N possibly damaging Het
Vmn2r15 T A 5: 109,440,770 (GRCm39) N363Y probably damaging Het
Vmn2r60 T A 7: 41,786,476 (GRCm39) N426K probably benign Het
Znhit2 C A 19: 6,112,288 (GRCm39) N344K probably damaging Het
Other mutations in Nfix
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Nfix APN 8 85,453,106 (GRCm39) missense probably damaging 0.99
IGL01919:Nfix APN 8 85,453,103 (GRCm39) missense probably damaging 1.00
IGL01950:Nfix APN 8 85,440,415 (GRCm39) makesense probably null
IGL02862:Nfix APN 8 85,440,475 (GRCm39) missense probably benign 0.07
R0142:Nfix UTSW 8 85,448,315 (GRCm39) missense probably damaging 1.00
R0309:Nfix UTSW 8 85,448,403 (GRCm39) missense probably damaging 1.00
R0600:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R0622:Nfix UTSW 8 85,453,111 (GRCm39) missense probably damaging 0.99
R0628:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R0882:Nfix UTSW 8 85,454,554 (GRCm39) missense probably damaging 1.00
R0893:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R0973:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R0973:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R0974:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R0975:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R1014:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R1015:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R1162:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R1381:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R1513:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R1521:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R1618:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R1865:Nfix UTSW 8 85,498,904 (GRCm39) missense possibly damaging 0.73
R1912:Nfix UTSW 8 85,448,306 (GRCm39) missense probably damaging 1.00
R1974:Nfix UTSW 8 85,453,155 (GRCm39) missense probably damaging 1.00
R2208:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R2251:Nfix UTSW 8 85,442,799 (GRCm39) missense probably benign 0.03
R2268:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R2270:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R2272:Nfix UTSW 8 85,453,804 (GRCm39) missense probably damaging 1.00
R2346:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R2350:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R2963:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R2983:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R3008:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R3727:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R3791:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R4163:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R4164:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R4201:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R4206:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R4609:Nfix UTSW 8 85,453,119 (GRCm39) missense probably damaging 1.00
R4801:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R4802:Nfix UTSW 8 85,442,876 (GRCm39) frame shift probably null
R4914:Nfix UTSW 8 85,498,458 (GRCm39) missense probably benign 0.00
R4915:Nfix UTSW 8 85,498,458 (GRCm39) missense probably benign 0.00
R4916:Nfix UTSW 8 85,498,458 (GRCm39) missense probably benign 0.00
R4918:Nfix UTSW 8 85,498,458 (GRCm39) missense probably benign 0.00
R5013:Nfix UTSW 8 85,498,713 (GRCm39) missense possibly damaging 0.86
R5290:Nfix UTSW 8 85,440,406 (GRCm39) nonsense probably null
R6418:Nfix UTSW 8 85,453,778 (GRCm39) missense probably benign 0.01
R6554:Nfix UTSW 8 85,454,279 (GRCm39) missense possibly damaging 0.93
R6786:Nfix UTSW 8 85,454,276 (GRCm39) missense probably damaging 1.00
R8853:Nfix UTSW 8 85,454,276 (GRCm39) missense probably damaging 1.00
R9014:Nfix UTSW 8 85,448,405 (GRCm39) missense possibly damaging 0.95
T0970:Nfix UTSW 8 85,453,112 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GATCTATGAAGAAGAGGCCATGCCC -3'
(R):5'- TGGAGATGCTCTGCTCCTAGAACTG -3'

Sequencing Primer
(F):5'- ACTATAGGCTTGGTAGCCGTC -3'
(R):5'- GCTCCTAGAACTGGGGTGC -3'
Posted On 2014-01-29