Incidental Mutation 'R6418:Nfix'
ID 518077
Institutional Source Beutler Lab
Gene Symbol Nfix
Ensembl Gene ENSMUSG00000001911
Gene Name nuclear factor I/X
Synonyms
MMRRC Submission 044560-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R6418 (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 85453778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 265 (S265P)
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 benign
Transcript: ENSMUST00000076715
AA Change: S265P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000076005
Gene: ENSMUSG00000001911
AA Change: S265P

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 benign
Transcript: ENSMUST00000099070
AA Change: S265P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000096669
Gene: ENSMUSG00000001911
AA Change: S265P

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
AA Change: S257P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000105384
Gene: ENSMUSG00000001911
AA Change: S257P

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 benign
Transcript: ENSMUST00000109764
AA Change: S257P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000105386
Gene: ENSMUSG00000001911
AA Change: S257P

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 benign
Transcript: ENSMUST00000126806
AA Change: S265P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000115691
Gene: ENSMUSG00000001911
AA Change: S265P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.8%
Validation Efficiency 99% (67/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930507D05Rik C T 10: 62,285,441 (GRCm39) A55V unknown Het
Adra1b T G 11: 43,667,028 (GRCm39) D403A probably benign Het
Ankdd1b A T 13: 96,597,405 (GRCm39) L9Q probably damaging Het
Ankrd17 A T 5: 90,426,204 (GRCm39) S789R possibly damaging Het
B3galnt1 A G 3: 69,482,326 (GRCm39) S312P probably damaging Het
C4bp C T 1: 130,583,750 (GRCm39) V73M probably damaging Het
Ccdc121rt2 T C 5: 112,598,019 (GRCm39) S189P probably benign Het
Cenpe T A 3: 134,957,305 (GRCm39) N1854K probably damaging Het
Chrm2 A C 6: 36,500,674 (GRCm39) Y177S probably damaging Het
Clca4b C T 3: 144,633,996 (GRCm39) V140I probably benign Het
Csad A G 15: 102,087,958 (GRCm39) S322P probably damaging Het
Depdc1b T G 13: 108,493,956 (GRCm39) Y115D probably damaging Het
Dnah17 T C 11: 118,020,023 (GRCm39) Y8C probably damaging Het
Dsg3 T C 18: 20,656,817 (GRCm39) probably null Het
Elf5 A G 2: 103,269,697 (GRCm39) T93A possibly damaging Het
Eogt C T 6: 97,122,353 (GRCm39) D27N possibly damaging Het
Fam118b T C 9: 35,146,633 (GRCm39) D78G probably damaging Het
Fhip2a T A 19: 57,370,166 (GRCm39) M470K probably benign Het
Frem3 A G 8: 81,337,781 (GRCm39) T25A probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Golm1 T C 13: 59,813,375 (GRCm39) Y32C probably damaging Het
Has1 A T 17: 18,070,207 (GRCm39) V238E probably damaging Het
Hkdc1 T C 10: 62,219,583 (GRCm39) R907G possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Krtap24-1 C T 16: 88,408,761 (GRCm39) V122I probably damaging Het
Lrrc10 T G 10: 116,881,616 (GRCm39) L97V probably damaging Het
Map3k20 T A 2: 72,232,457 (GRCm39) M371K probably benign Het
Mis18bp1 A T 12: 65,205,317 (GRCm39) M2K possibly damaging Het
Mob3b T A 4: 34,954,049 (GRCm39) probably null Het
Muc4 A G 16: 32,570,607 (GRCm39) T556A possibly damaging Het
Muc6 A C 7: 141,224,032 (GRCm39) probably benign Het
Ncapg A T 5: 45,839,158 (GRCm39) L519F probably damaging Het
Or13p10 T A 4: 118,522,808 (GRCm39) F31L possibly damaging Het
Or4c121 T C 2: 89,023,823 (GRCm39) K185R probably damaging Het
Or4k49 T C 2: 111,494,817 (GRCm39) V82A probably benign Het
Or52e5 T C 7: 104,719,514 (GRCm39) L280P probably damaging Het
Or8g35 C A 9: 39,381,112 (GRCm39) K303N probably benign Het
Osgin2 T C 4: 16,006,410 (GRCm39) T95A probably benign Het
Parp4 T C 14: 56,858,108 (GRCm39) probably null Het
Pcdh7 G A 5: 57,879,046 (GRCm39) G867D probably damaging Het
Pcdhb22 T C 18: 37,652,959 (GRCm39) S476P possibly damaging Het
Phldb1 A G 9: 44,623,197 (GRCm39) I619T probably damaging Het
Ppp1r13l C T 7: 19,105,256 (GRCm39) R343C probably damaging Het
Rab2b T A 14: 52,506,164 (GRCm39) probably benign Het
Rims2 A T 15: 39,373,092 (GRCm39) E972V probably damaging Het
Slc26a9 G T 1: 131,686,228 (GRCm39) C337F probably benign Het
Spty2d1 A G 7: 46,647,751 (GRCm39) S393P probably damaging Het
Stkld1 A T 2: 26,831,093 (GRCm39) N90I possibly damaging Het
Svep1 T A 4: 58,053,126 (GRCm39) R3406S probably benign Het
Svil A T 18: 5,040,171 (GRCm39) D48V probably benign Het
Thsd7a T A 6: 12,555,081 (GRCm39) K268* probably null Het
Tmc6 A G 11: 117,661,326 (GRCm39) L618P probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Ube2q2l C A 6: 136,378,099 (GRCm39) D244Y probably damaging Het
Ubn1 A G 16: 4,899,791 (GRCm39) H1101R probably benign Het
Upf2 G A 2: 6,032,150 (GRCm39) V899I unknown Het
Ush2a A T 1: 188,360,763 (GRCm39) N2161I probably damaging Het
Usp25 A T 16: 76,859,330 (GRCm39) D276V probably damaging Het
Vmn2r68 T A 7: 84,882,915 (GRCm39) H279L probably benign Het
Vps13d G A 4: 144,818,850 (GRCm39) R3019W probably damaging Het
Vsig10 A T 5: 117,486,361 (GRCm39) E423D probably benign Het
Wdfy2 T A 14: 63,162,582 (GRCm39) F95I probably benign Het
Xrn1 A G 9: 95,915,763 (GRCm39) probably null Het
Zdhhc13 A G 7: 48,461,149 (GRCm39) T362A possibly damaging Het
Zfp984 C T 4: 147,845,703 (GRCm39) S2N 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
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
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'- CGTGGAACTCAGTCATTAAAGAG -3'
(R):5'- AGACATCACAGGGGCTCTTC -3'

Sequencing Primer
(F):5'- CAGTCAATTCCAGGTCAGCTAGTTG -3'
(R):5'- TGGGCTTCCAGGAAGAGGC -3'
Posted On 2018-05-24