Incidental Mutation 'IGL02188:Nfx1'
ID 283739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfx1
Ensembl Gene ENSMUSG00000028423
Gene Name nuclear transcription factor, X-box binding 1
Synonyms Tex42, 3000003M19Rik, 1300017N15Rik, TEG-42
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # IGL02188
Quality Score
Status
Chromosome 4
Chromosomal Location 40970906-41025992 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40993827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 547 (G547R)
Ref Sequence ENSEMBL: ENSMUSP00000095747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030133] [ENSMUST00000091614] [ENSMUST00000098143]
AlphaFold B1AY10
Predicted Effect probably damaging
Transcript: ENSMUST00000030133
AA Change: G547R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030133
Gene: ENSMUSG00000028423
AA Change: G547R

DomainStartEndE-ValueType
RING 352 402 3.91e-2 SMART
ZnF_NFX 447 465 1.23e-3 SMART
ZnF_NFX 500 519 6.16e-4 SMART
ZnF_NFX 561 580 2e-3 SMART
ZnF_NFX 626 649 5.45e-5 SMART
ZnF_NFX 688 707 5.25e0 SMART
ZnF_NFX 715 734 2.92e-5 SMART
ZnF_NFX 772 791 5.25e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000091614
AA Change: G547R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089203
Gene: ENSMUSG00000028423
AA Change: G547R

DomainStartEndE-ValueType
RING 352 402 3.91e-2 SMART
ZnF_NFX 447 465 1.23e-3 SMART
ZnF_NFX 500 519 6.16e-4 SMART
ZnF_NFX 561 580 2e-3 SMART
ZnF_NFX 626 649 5.45e-5 SMART
ZnF_NFX 688 707 5.25e0 SMART
ZnF_NFX 715 734 2.92e-5 SMART
ZnF_NFX 772 791 5.25e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098143
AA Change: G547R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095747
Gene: ENSMUSG00000028423
AA Change: G547R

DomainStartEndE-ValueType
RING 352 402 3.91e-2 SMART
ZnF_NFX 447 465 1.23e-3 SMART
ZnF_NFX 500 519 6.16e-4 SMART
ZnF_NFX 561 580 2e-3 SMART
ZnF_NFX 626 649 5.45e-5 SMART
ZnF_NFX 688 707 5.25e0 SMART
ZnF_NFX 715 734 2.92e-5 SMART
ZnF_NFX 772 791 5.25e0 SMART
ZnF_NFX 826 848 7.7e-5 SMART
ZnF_NFX 857 878 4.23e-2 SMART
coiled coil region 930 956 N/A INTRINSIC
R3H 977 1055 1.38e-22 SMART
low complexity region 1070 1088 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175121
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,093,421 (GRCm39) N56S probably benign Het
Asb18 A G 1: 89,924,021 (GRCm39) C81R probably benign Het
Ccl25 A C 8: 4,398,552 (GRCm39) probably benign Het
Cdh13 A G 8: 119,578,500 (GRCm39) T176A probably benign Het
Cnrip1 A G 11: 17,028,398 (GRCm39) probably null Het
Dnmt1 A T 9: 20,853,034 (GRCm39) C62* probably null Het
Eepd1 T C 9: 25,493,188 (GRCm39) F311L probably benign Het
Extl3 A G 14: 65,313,154 (GRCm39) L676P probably damaging Het
F13a1 A G 13: 37,090,035 (GRCm39) probably benign Het
Galnt12 C T 4: 47,122,521 (GRCm39) R267W probably damaging Het
Gm5150 T A 3: 16,017,826 (GRCm39) K148N possibly damaging Het
Haus8 G T 8: 71,710,059 (GRCm39) A51E probably damaging Het
Hyal5 T C 6: 24,877,035 (GRCm39) Y303H probably damaging Het
Itga5 C T 15: 103,256,144 (GRCm39) R936H probably benign Het
Itgb4 A G 11: 115,894,213 (GRCm39) N1282S probably benign Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Matn4 C T 2: 164,242,786 (GRCm39) R104H probably benign Het
Mideas T C 12: 84,209,100 (GRCm39) I667M probably benign Het
Myg1 T C 15: 102,245,876 (GRCm39) I238T probably benign Het
Myo7a C T 7: 97,740,234 (GRCm39) A598T probably damaging Het
Nbea T A 3: 55,891,258 (GRCm39) I1604L probably benign Het
Or5b113 A T 19: 13,342,396 (GRCm39) M135L probably benign Het
Or5b113 A T 19: 13,342,643 (GRCm39) Y217F probably damaging Het
Pelp1 T A 11: 70,300,718 (GRCm39) I41F unknown Het
Pla2g2f T C 4: 138,479,518 (GRCm39) probably benign Het
Rab19 T A 6: 39,360,968 (GRCm39) S39T probably benign Het
Samd8 T C 14: 21,833,866 (GRCm39) probably null Het
Sec16a T C 2: 26,326,020 (GRCm39) D1219G probably damaging Het
Slc2a4 C T 11: 69,837,156 (GRCm39) M1I probably null Het
Slc44a1 T C 4: 53,541,361 (GRCm39) V273A probably benign Het
Spata31f1e T A 4: 42,791,994 (GRCm39) probably null Het
Svep1 T C 4: 58,068,382 (GRCm39) T3135A possibly damaging Het
Tnnc1 T C 14: 30,932,617 (GRCm39) L100P possibly damaging Het
Ubr3 C T 2: 69,789,955 (GRCm39) R870* probably null Het
Usp28 T C 9: 48,935,309 (GRCm39) S87P probably benign Het
Xylt1 T A 7: 117,233,964 (GRCm39) V497E probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Nfx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Nfx1 APN 4 40,977,241 (GRCm39) missense probably benign 0.00
IGL01998:Nfx1 APN 4 41,004,353 (GRCm39) missense probably damaging 1.00
IGL02072:Nfx1 APN 4 41,016,119 (GRCm39) missense probably benign
IGL02170:Nfx1 APN 4 41,018,019 (GRCm39) missense probably damaging 1.00
IGL02502:Nfx1 APN 4 40,976,345 (GRCm39) splice site probably benign
IGL02674:Nfx1 APN 4 40,999,717 (GRCm39) critical splice donor site probably null
IGL03007:Nfx1 APN 4 40,984,962 (GRCm39) missense probably benign 0.02
IGL03092:Nfx1 APN 4 41,024,851 (GRCm39) missense probably damaging 1.00
IGL03303:Nfx1 APN 4 41,004,323 (GRCm39) splice site probably benign
K7371:Nfx1 UTSW 4 40,976,803 (GRCm39) missense probably damaging 1.00
PIT4498001:Nfx1 UTSW 4 40,977,244 (GRCm39) missense probably benign
R0032:Nfx1 UTSW 4 41,015,321 (GRCm39) missense probably benign 0.00
R0032:Nfx1 UTSW 4 41,015,321 (GRCm39) missense probably benign 0.00
R0069:Nfx1 UTSW 4 40,986,688 (GRCm39) splice site probably benign
R1056:Nfx1 UTSW 4 41,003,057 (GRCm39) missense probably damaging 0.97
R1449:Nfx1 UTSW 4 40,976,803 (GRCm39) missense probably damaging 1.00
R1635:Nfx1 UTSW 4 40,977,004 (GRCm39) missense probably benign
R1636:Nfx1 UTSW 4 41,016,072 (GRCm39) splice site probably null
R1882:Nfx1 UTSW 4 41,009,240 (GRCm39) missense possibly damaging 0.55
R2089:Nfx1 UTSW 4 40,977,004 (GRCm39) missense probably benign
R2091:Nfx1 UTSW 4 40,977,004 (GRCm39) missense probably benign
R2091:Nfx1 UTSW 4 40,977,004 (GRCm39) missense probably benign
R3792:Nfx1 UTSW 4 41,004,357 (GRCm39) nonsense probably null
R3793:Nfx1 UTSW 4 41,004,357 (GRCm39) nonsense probably null
R4668:Nfx1 UTSW 4 40,976,367 (GRCm39) missense possibly damaging 0.50
R4678:Nfx1 UTSW 4 41,012,070 (GRCm39) missense probably benign 0.01
R4894:Nfx1 UTSW 4 40,996,877 (GRCm39) missense probably damaging 1.00
R4972:Nfx1 UTSW 4 40,976,375 (GRCm39) missense probably benign 0.36
R5066:Nfx1 UTSW 4 40,991,868 (GRCm39) missense probably benign
R5389:Nfx1 UTSW 4 40,985,000 (GRCm39) missense probably damaging 1.00
R5429:Nfx1 UTSW 4 41,004,343 (GRCm39) missense probably damaging 1.00
R5643:Nfx1 UTSW 4 40,984,973 (GRCm39) missense probably null 1.00
R5644:Nfx1 UTSW 4 40,984,973 (GRCm39) missense probably null 1.00
R5915:Nfx1 UTSW 4 40,977,285 (GRCm39) missense probably benign 0.02
R6286:Nfx1 UTSW 4 40,986,728 (GRCm39) missense probably damaging 1.00
R6393:Nfx1 UTSW 4 40,976,851 (GRCm39) missense possibly damaging 0.92
R7409:Nfx1 UTSW 4 41,021,830 (GRCm39) missense possibly damaging 0.64
R7523:Nfx1 UTSW 4 41,016,119 (GRCm39) missense probably benign
R7916:Nfx1 UTSW 4 40,977,142 (GRCm39) missense probably benign 0.11
R8497:Nfx1 UTSW 4 40,976,968 (GRCm39) missense possibly damaging 0.67
R8799:Nfx1 UTSW 4 41,023,727 (GRCm39) missense probably damaging 1.00
R9154:Nfx1 UTSW 4 40,990,845 (GRCm39) missense probably damaging 1.00
R9364:Nfx1 UTSW 4 41,023,756 (GRCm39) missense probably benign 0.31
R9497:Nfx1 UTSW 4 40,994,104 (GRCm39) missense probably benign 0.00
X0025:Nfx1 UTSW 4 40,976,422 (GRCm39) missense possibly damaging 0.83
Posted On 2015-04-16