Incidental Mutation 'R8853:Nfix'
ID 675122
Institutional Source Beutler Lab
Gene Symbol Nfix
Ensembl Gene ENSMUSG00000001911
Gene Name nuclear factor I/X
Synonyms
MMRRC Submission 068675-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R8853 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 85431341-85527086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85454276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 211 (S211P)
Ref Sequence ENSEMBL: ENSMUSP00000105386 (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: S219P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076005
Gene: ENSMUSG00000001911
AA Change: S219P

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: 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: S219P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096669
Gene: ENSMUSG00000001911
AA Change: S219P

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: S211P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105384
Gene: ENSMUSG00000001911
AA Change: S211P

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: S211P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105386
Gene: ENSMUSG00000001911
AA Change: S211P

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: S219P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115691
Gene: ENSMUSG00000001911
AA Change: S219P

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 0.6064 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1 A T 6: 48,882,994 (GRCm39) Y290F probably benign Het
Ap5m1 T A 14: 49,311,337 (GRCm39) L136M possibly damaging Het
Arpp21 T G 9: 111,976,516 (GRCm39) T322P probably damaging Het
Atp6v1c2 C T 12: 17,351,148 (GRCm39) V128M possibly damaging Het
C4b A G 17: 34,948,879 (GRCm39) V1523A possibly damaging Het
Copg2 G C 6: 30,803,115 (GRCm39) L277V probably benign Het
Cyp2b19 A G 7: 26,456,645 (GRCm39) T12A possibly damaging Het
D5Ertd579e A T 5: 36,787,024 (GRCm39) C115S probably damaging Het
Defb35 G A 8: 22,430,806 (GRCm39) R60Q unknown Het
Dlgap3 T A 4: 127,088,810 (GRCm39) D135E probably damaging Het
Dync2h1 A T 9: 7,117,645 (GRCm39) W2215R possibly damaging Het
Eea1 G C 10: 95,857,517 (GRCm39) A660P Het
Egfr A G 11: 16,858,885 (GRCm39) I955V possibly damaging Het
Eif3b G A 5: 140,425,774 (GRCm39) V655M probably damaging Het
Elp3 T A 14: 65,815,390 (GRCm39) I220F probably benign Het
Ern2 A G 7: 121,772,967 (GRCm39) V550A probably damaging Het
Evc G A 5: 37,460,647 (GRCm39) S857L possibly damaging Het
Glt28d2 T A 3: 85,779,087 (GRCm39) M129L probably benign Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,547,726 (GRCm39) Y2742N probably damaging Het
Klhl6 T A 16: 19,765,979 (GRCm39) Q541L possibly damaging Het
Myh14 G A 7: 44,265,678 (GRCm39) T1559I probably benign Het
Myo7b A G 18: 32,119,744 (GRCm39) F783L possibly damaging Het
Myrip C T 9: 120,290,487 (GRCm39) A702V probably damaging Het
Ndnf C A 6: 65,680,161 (GRCm39) Q147K probably benign Het
Necab2 C G 8: 120,189,339 (GRCm39) R170G possibly damaging Het
Nfatc4 T C 14: 56,063,690 (GRCm39) I59T probably damaging Het
Nlrp5 A T 7: 23,117,725 (GRCm39) Q483L possibly damaging Het
Or6k14 T C 1: 173,927,861 (GRCm39) V279A probably damaging Het
Pde4a A G 9: 21,106,119 (GRCm39) T245A possibly damaging Het
Peli2 C T 14: 48,493,945 (GRCm39) T389M probably damaging Het
Pfas T C 11: 68,883,744 (GRCm39) K638E probably damaging Het
Pkhd1 A G 1: 20,143,679 (GRCm39) probably null Het
Plch1 T C 3: 63,688,967 (GRCm39) D67G probably damaging Het
Plcl2 A T 17: 50,913,884 (GRCm39) R298* probably null Het
Ppp1r13l A G 7: 19,103,893 (GRCm39) I125V probably benign Het
Ppp2r3d A G 9: 101,090,110 (GRCm39) V71A probably benign Het
Pvr A G 7: 19,650,897 (GRCm39) V209A possibly damaging Het
Rap1gap2 A G 11: 74,298,198 (GRCm39) L414P probably damaging Het
Rasgrp2 A G 19: 6,464,855 (GRCm39) D601G probably damaging Het
Reck T A 4: 43,912,089 (GRCm39) N199K probably benign Het
Rin2 G T 2: 145,718,475 (GRCm39) A652S possibly damaging Het
Rnf34 T C 5: 123,002,087 (GRCm39) L88P possibly damaging Het
Serpina3m A G 12: 104,355,914 (GRCm39) I194V probably benign Het
Spred3 A G 7: 28,861,415 (GRCm39) S255P probably benign Het
Sult2a7 A G 7: 14,225,641 (GRCm39) probably null Het
Synpo2l C A 14: 20,711,442 (GRCm39) G622C probably damaging Het
Tenm3 A G 8: 48,795,382 (GRCm39) C582R probably damaging Het
Tex261 A T 6: 83,750,727 (GRCm39) I90N probably damaging Het
Trappc11 A G 8: 47,982,439 (GRCm39) F100S probably damaging Het
Trhde G A 10: 114,636,830 (GRCm39) P126S probably benign Het
Vmn2r53 A T 7: 12,315,737 (GRCm39) V694E probably damaging Het
Vmn2r54 A T 7: 12,349,782 (GRCm39) L600Q probably damaging Het
Vwf G A 6: 125,634,227 (GRCm39) C2174Y Het
Wee2 A G 6: 40,441,200 (GRCm39) T502A probably benign Het
Zfp112 A T 7: 23,823,390 (GRCm39) silent Het
Zfp40 T A 17: 23,394,691 (GRCm39) H632L possibly damaging Het
Zmynd11 T C 13: 9,740,965 (GRCm39) S378G 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
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
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
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'- GATTCTCTGGGCAACGAACG -3'
(R):5'- TTCAGCTGTCCACTGACTTG -3'

Sequencing Primer
(F):5'- AACGAACGGCTCCTCTCAGG -3'
(R):5'- CTGTCCACTGACTTGGGCTG -3'
Posted On 2021-07-15