Incidental Mutation 'IGL03007:Nfx1'
ID |
407603 |
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 # |
IGL03007
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
40970906-41025992 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 40984962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 362
(T362K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030133]
[ENSMUST00000091614]
[ENSMUST00000098143]
|
AlphaFold |
B1AY10 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030133
AA Change: T362K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000030133 Gene: ENSMUSG00000028423 AA Change: T362K
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 benign
Transcript: ENSMUST00000091614
AA Change: T362K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000089203 Gene: ENSMUSG00000028423 AA Change: T362K
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 benign
Transcript: ENSMUST00000098143
AA Change: T362K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000095747 Gene: ENSMUSG00000028423 AA Change: T362K
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 |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
G |
10: 29,098,034 (GRCm39) |
N144D |
possibly damaging |
Het |
A830031A19Rik |
T |
C |
11: 23,999,248 (GRCm39) |
|
probably benign |
Het |
Ankfy1 |
T |
C |
11: 72,641,347 (GRCm39) |
F640S |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,040,615 (GRCm39) |
Y16H |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,496,193 (GRCm39) |
|
probably benign |
Het |
Btbd8 |
T |
A |
5: 107,651,542 (GRCm39) |
V145E |
probably benign |
Het |
Celf3 |
A |
G |
3: 94,394,444 (GRCm39) |
T183A |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,159,690 (GRCm39) |
V56A |
probably damaging |
Het |
Erbb2 |
A |
C |
11: 98,319,819 (GRCm39) |
|
probably benign |
Het |
Ighv6-4 |
A |
T |
12: 114,370,213 (GRCm39) |
Y80N |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,378 (GRCm39) |
S782P |
probably damaging |
Het |
Itsn1 |
A |
T |
16: 91,581,050 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
A |
1: 140,282,245 (GRCm39) |
Y77N |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,680,401 (GRCm39) |
F359S |
probably damaging |
Het |
Mtmr6 |
G |
T |
14: 60,526,984 (GRCm39) |
|
probably benign |
Het |
Muc4 |
C |
T |
16: 32,570,866 (GRCm39) |
S642F |
possibly damaging |
Het |
Ncoa1 |
T |
A |
12: 4,389,114 (GRCm39) |
I54F |
possibly damaging |
Het |
Ntrk1 |
T |
C |
3: 87,690,050 (GRCm39) |
S449G |
possibly damaging |
Het |
Odc1 |
T |
A |
12: 17,598,811 (GRCm39) |
H230Q |
probably benign |
Het |
Or10d4 |
T |
C |
9: 39,580,767 (GRCm39) |
V138A |
possibly damaging |
Het |
Or10h28 |
A |
G |
17: 33,487,857 (GRCm39) |
E53G |
probably damaging |
Het |
Or1j19 |
T |
C |
2: 36,676,812 (GRCm39) |
S92P |
probably damaging |
Het |
Or8d1 |
C |
T |
9: 38,766,592 (GRCm39) |
T78I |
probably damaging |
Het |
Plekhh2 |
A |
C |
17: 84,882,388 (GRCm39) |
S665R |
possibly damaging |
Het |
Qpct |
T |
A |
17: 79,378,294 (GRCm39) |
F155I |
probably damaging |
Het |
Rcor2 |
C |
A |
19: 7,251,718 (GRCm39) |
T379K |
probably benign |
Het |
Rint1 |
A |
G |
5: 24,020,699 (GRCm39) |
N574S |
probably benign |
Het |
Rsbn1 |
C |
T |
3: 103,836,195 (GRCm39) |
A411V |
probably damaging |
Het |
Sbno2 |
A |
T |
10: 79,894,384 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,668,115 (GRCm39) |
S661P |
probably damaging |
Het |
Syn3 |
A |
T |
10: 85,900,778 (GRCm39) |
M370K |
possibly damaging |
Het |
Tex101 |
G |
A |
7: 24,369,906 (GRCm39) |
|
probably benign |
Het |
Tmem255b |
C |
T |
8: 13,507,066 (GRCm39) |
T265I |
possibly damaging |
Het |
Trio |
G |
T |
15: 27,902,828 (GRCm39) |
A211D |
probably damaging |
Het |
Zfp638 |
C |
A |
6: 83,961,866 (GRCm39) |
Q1902K |
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 |
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 |
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 |
|
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 |
2016-08-02 |