Incidental Mutation 'R0974:Nfix'
ID 83026
Institutional Source Beutler Lab
Gene Symbol Nfix
Ensembl Gene ENSMUSG00000001911
Gene Name nuclear factor I/X
Synonyms
MMRRC Submission 039103-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R0974 (G1)
Quality Score 225
Status Not 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: 99.6%
  • 3x: 98.8%
  • 10x: 96.5%
  • 20x: 91.9%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cd46 T C 1: 194,724,300 (GRCm39) *366W probably null Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Dnah9 A T 11: 65,896,663 (GRCm39) probably null Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Khsrp T C 17: 57,332,576 (GRCm39) T235A probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Pld2 T C 11: 70,447,907 (GRCm39) W857R probably damaging Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Sri A T 5: 8,109,381 (GRCm39) Q55L probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Trpv6 T A 6: 41,602,122 (GRCm39) T396S probably benign Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Usp24 A G 4: 106,270,875 (GRCm39) probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H 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
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
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'- TCTGGAGATGCTCTGCTCCTAGAAC -3'

Sequencing Primer
(F):5'- ACTATAGGCTTGGTAGCCGTC -3'
(R):5'- GCTCCTAGAACTGGGGTGC -3'
Posted On 2013-11-08