Incidental Mutation 'IGL01998:Nfx1'
| ID |
182966 |
| 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 # |
IGL01998
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
40970906-41025992 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41004353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 708
(I708N)
|
| 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: I708N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030133
Gene: ENSMUSG00000028423
AA Change: I708N
| 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: I708N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089203
Gene: ENSMUSG00000028423
AA Change: I708N
| 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: I708N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095747
Gene: ENSMUSG00000028423
AA Change: I708N
| 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: ENSMUST00000124595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143798
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc3 |
T |
C |
5: 122,541,470 (GRCm39) |
C78R |
probably damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,263 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
A |
G |
7: 25,328,203 (GRCm39) |
Y211C |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,880 (GRCm39) |
I736T |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,011,165 (GRCm39) |
S1788P |
possibly damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,110,120 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
A |
T |
6: 122,827,899 (GRCm39) |
M106K |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,194,179 (GRCm39) |
D205E |
probably benign |
Het |
| Cab39l |
T |
A |
14: 59,734,344 (GRCm39) |
L21Q |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,303,043 (GRCm39) |
I166F |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,722 (GRCm39) |
E256G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,887 (GRCm39) |
T519A |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,435,622 (GRCm39) |
L233Q |
probably damaging |
Het |
| Crlf3 |
G |
A |
11: 79,948,845 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,102,495 (GRCm39) |
|
probably benign |
Het |
| Drc7 |
T |
A |
8: 95,785,821 (GRCm39) |
C226S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,232,593 (GRCm39) |
D807V |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,187,021 (GRCm39) |
L1275P |
probably benign |
Het |
| Fv1 |
T |
C |
4: 147,953,784 (GRCm39) |
C117R |
possibly damaging |
Het |
| Ighg2b |
C |
A |
12: 113,270,709 (GRCm39) |
M140I |
unknown |
Het |
| Klra5 |
A |
T |
6: 129,883,676 (GRCm39) |
Y60* |
probably null |
Het |
| Lmtk2 |
C |
T |
5: 144,112,883 (GRCm39) |
T1201I |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,146,896 (GRCm39) |
L1230H |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,422 (GRCm39) |
D1899V |
probably damaging |
Het |
| Npepl1 |
T |
A |
2: 173,957,993 (GRCm39) |
|
probably benign |
Het |
| Nps |
T |
A |
7: 134,870,481 (GRCm39) |
|
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,408,162 (GRCm39) |
S24G |
probably damaging |
Het |
| Or1j20 |
A |
G |
2: 36,759,658 (GRCm39) |
N27D |
probably benign |
Het |
| Or2ag16 |
G |
A |
7: 106,351,758 (GRCm39) |
T279M |
possibly damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,403 (GRCm39) |
Y136* |
probably null |
Het |
| Or4k2 |
C |
A |
14: 50,424,105 (GRCm39) |
V190L |
probably benign |
Het |
| Pigx |
G |
T |
16: 31,903,428 (GRCm39) |
T211K |
probably benign |
Het |
| Pink1 |
A |
G |
4: 138,048,053 (GRCm39) |
I223T |
probably damaging |
Het |
| Plat |
G |
A |
8: 23,257,163 (GRCm39) |
A15T |
probably benign |
Het |
| Ptges2 |
G |
A |
2: 32,291,542 (GRCm39) |
A310T |
possibly damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,012,509 (GRCm39) |
S306P |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,567,403 (GRCm39) |
K316E |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,438,742 (GRCm39) |
I1708T |
probably damaging |
Het |
| Sdk2 |
A |
T |
11: 113,729,358 (GRCm39) |
F1073Y |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,594,650 (GRCm39) |
D170G |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,583,994 (GRCm39) |
|
probably benign |
Het |
| Strbp |
A |
G |
2: 37,515,297 (GRCm39) |
L243P |
probably damaging |
Het |
| Tex55 |
A |
T |
16: 38,648,586 (GRCm39) |
D174E |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,882,920 (GRCm39) |
T446S |
probably damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,431 (GRCm39) |
V239I |
probably benign |
Het |
| Trav8-1 |
A |
T |
14: 53,707,662 (GRCm39) |
T101S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,594,350 (GRCm39) |
D27G |
probably damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,349,227 (GRCm39) |
E785G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,862,350 (GRCm39) |
|
probably null |
Het |
| Wwp2 |
C |
T |
8: 108,276,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,024,890 (GRCm39) |
H1460R |
probably damaging |
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 |
|
IGL02072:Nfx1
|
APN |
4 |
41,016,119 (GRCm39) |
missense |
probably benign |
|
|
IGL02170:Nfx1
|
APN |
4 |
41,018,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Nfx1
|
APN |
4 |
40,993,827 (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 |
2014-05-07 |
Incidental Mutation