Incidental Mutation 'R2268:Nfix'
ID 242237
Institutional Source Beutler Lab
Gene Symbol Nfix
Ensembl Gene ENSMUSG00000001911
Gene Name nuclear factor I/X
Synonyms
MMRRC Submission 040268-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R2268 (G1)
Quality Score 113
Status Validated
Chromosome 8
Chromosomal Location 85431341-85527086 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CAAAAA to CAAAA at 85442876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076715] [ENSMUST00000099070] [ENSMUST00000109762] [ENSMUST00000109764] [ENSMUST00000126806]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000076715
SMART Domains Protein: ENSMUSP00000076005
Gene: ENSMUSG00000001911

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 probably benign
Transcript: ENSMUST00000099070
SMART Domains Protein: ENSMUSP00000096669
Gene: ENSMUSG00000001911

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 benign
Transcript: ENSMUST00000109762
SMART Domains Protein: ENSMUSP00000105384
Gene: ENSMUSG00000001911

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 null
Transcript: ENSMUST00000109764
SMART Domains Protein: ENSMUSP00000105386
Gene: ENSMUSG00000001911

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 null
Transcript: ENSMUST00000126806
SMART Domains Protein: ENSMUSP00000115691
Gene: ENSMUSG00000001911

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132236
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A T 14: 8,253,496 (GRCm38) M217K probably damaging Het
Adam34 C T 8: 44,103,647 (GRCm39) R666H probably benign Het
Adap2 G T 11: 80,056,552 (GRCm39) Q188H probably damaging Het
Adgrb3 T C 1: 25,150,898 (GRCm39) T872A possibly damaging Het
Ahnak A G 19: 8,987,938 (GRCm39) K3074R possibly damaging Het
Ano7 A T 1: 93,308,161 (GRCm39) D64V possibly damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Arl13a A G X: 133,106,162 (GRCm39) Q236R possibly damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Atn1 C G 6: 124,723,203 (GRCm39) probably benign Het
Ccser1 C T 6: 61,547,827 (GRCm39) T118M probably damaging Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Col17a1 G A 19: 47,638,550 (GRCm39) P1173S probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp4f17 G T 17: 32,736,928 (GRCm39) V87F probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dhodh A G 8: 110,321,306 (GRCm39) F360S possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dynap C T 18: 70,374,218 (GRCm39) A103T probably benign Het
Edem2 G A 2: 155,544,137 (GRCm39) P538S probably benign Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Erich6 A T 3: 58,526,260 (GRCm39) S581T probably benign Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Fzd9 A G 5: 135,279,148 (GRCm39) S246P probably damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 A G 1: 150,500,349 (GRCm39) probably benign Het
Hps3 G A 3: 20,067,099 (GRCm39) probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Irs2 T C 8: 11,057,586 (GRCm39) E282G probably damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kif14 T A 1: 136,447,486 (GRCm39) C1430* probably null Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lamb1 A T 12: 31,377,644 (GRCm39) I1630F probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mink1 G A 11: 70,492,550 (GRCm39) probably null Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Myoc C T 1: 162,476,625 (GRCm39) T443M probably damaging Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Opcml T C 9: 28,814,651 (GRCm39) I301T possibly damaging Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or8b1 T A 9: 38,399,504 (GRCm39) Y60N probably damaging Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Phka1 A G X: 101,584,716 (GRCm39) probably benign Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Rdh7 A G 10: 127,720,530 (GRCm39) S281P probably benign Het
Rps17 C T 7: 80,994,746 (GRCm39) R5H probably benign Het
Scgb1b2 T A 7: 30,991,201 (GRCm39) probably benign Het
Skic3 T G 13: 76,260,393 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Snap23 A G 2: 120,429,793 (GRCm39) T213A probably benign Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
St8sia5 T C 18: 77,320,526 (GRCm39) S93P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbc1d22b A G 17: 29,818,828 (GRCm39) H394R probably damaging Het
Tbx5 A T 5: 119,983,174 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vangl1 A T 3: 102,104,160 (GRCm39) Y7N probably damaging Het
Vav2 A T 2: 27,182,667 (GRCm39) probably null Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r15 A G 5: 109,441,073 (GRCm39) Y262H probably benign Het
Vmn2r76 T C 7: 85,879,707 (GRCm39) M198V probably benign Het
Zfp831 A C 2: 174,486,034 (GRCm39) R236S probably benign 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
R1241: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
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'- TGCTGGCTGGAGTAACTGAG -3'
(R):5'- TCCTGTGCCTAGAGGAAAGG -3'

Sequencing Primer
(F):5'- CCTCTCTTTGCAGTGGAGAC -3'
(R):5'- GAGGAAAGGACCCTCCCTC -3'
Posted On 2014-10-16