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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |