Incidental Mutation 'IGL02170:Nfx1'
| ID |
282860 |
| 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 # |
IGL02170
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
40970906-41025992 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41018019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 920
(G920E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030133]
[ENSMUST00000098143]
|
| AlphaFold |
B1AY10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030133
|
| SMART Domains |
Protein: ENSMUSP00000030133
Gene: ENSMUSG00000028423
| 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: G920E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095747
Gene: ENSMUSG00000028423
AA Change: G920E
| 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: ENSMUST00000136717
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
G |
A |
16: 16,936,196 (GRCm39) |
P176L |
probably damaging |
Het |
| 4932414N04Rik |
A |
G |
2: 68,561,467 (GRCm39) |
M265V |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,524,173 (GRCm39) |
E1153G |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,184,845 (GRCm39) |
T452A |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,597,432 (GRCm39) |
T56A |
possibly damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,062,103 (GRCm39) |
V674A |
possibly damaging |
Het |
| Ccnb1 |
A |
T |
13: 100,919,994 (GRCm39) |
Y172* |
probably null |
Het |
| Chrdl2 |
A |
T |
7: 99,683,821 (GRCm39) |
T416S |
possibly damaging |
Het |
| Col6a5 |
A |
G |
9: 105,805,621 (GRCm39) |
L1095P |
unknown |
Het |
| Dhx16 |
T |
C |
17: 36,200,361 (GRCm39) |
C901R |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,656,371 (GRCm39) |
T732A |
probably benign |
Het |
| Dnah12 |
A |
C |
14: 26,495,069 (GRCm39) |
I1376L |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,217,949 (GRCm39) |
L1207Q |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,816,278 (GRCm39) |
H192L |
probably benign |
Het |
| Evi5 |
T |
A |
5: 107,969,750 (GRCm39) |
T54S |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,592,795 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
T |
17: 75,847,187 (GRCm39) |
|
probably null |
Het |
| Frmd4a |
G |
A |
2: 4,570,988 (GRCm39) |
R306K |
probably damaging |
Het |
| Fxyd7 |
C |
A |
7: 30,744,432 (GRCm39) |
V28L |
possibly damaging |
Het |
| Gabrb1 |
T |
A |
5: 72,294,073 (GRCm39) |
I449K |
probably damaging |
Het |
| Gkn3 |
G |
T |
6: 87,360,493 (GRCm39) |
D167E |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,638,144 (GRCm39) |
Y406F |
probably damaging |
Het |
| Gm8603 |
T |
A |
17: 13,737,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
T |
C |
13: 14,438,743 (GRCm39) |
N880S |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,003,548 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Hscb |
T |
A |
5: 110,987,492 (GRCm39) |
S35C |
probably damaging |
Het |
| Hspa12a |
T |
G |
19: 58,793,113 (GRCm39) |
K357N |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,427,588 (GRCm39) |
I302F |
probably damaging |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,215 (GRCm39) |
C351S |
unknown |
Het |
| Mvd |
A |
G |
8: 123,164,747 (GRCm39) |
V142A |
probably benign |
Het |
| Myo1f |
A |
T |
17: 33,797,246 (GRCm39) |
I143L |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,565,849 (GRCm39) |
E599D |
possibly damaging |
Het |
| Nfasc |
A |
T |
1: 132,538,104 (GRCm39) |
C495* |
probably null |
Het |
| Nlrp4g |
T |
G |
9: 124,348,980 (GRCm38) |
|
noncoding transcript |
Het |
| Nup85 |
T |
A |
11: 115,468,757 (GRCm39) |
V200E |
probably damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,906 (GRCm39) |
I290F |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,120 (GRCm39) |
M302V |
probably benign |
Het |
| Pask |
T |
C |
1: 93,238,606 (GRCm39) |
Q1293R |
possibly damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,636,646 (GRCm39) |
S232T |
probably benign |
Het |
| Prr12 |
G |
A |
7: 44,695,612 (GRCm39) |
R1285W |
unknown |
Het |
| Rimoc1 |
C |
T |
15: 4,015,848 (GRCm39) |
V239I |
probably benign |
Het |
| Rxylt1 |
A |
T |
10: 121,930,548 (GRCm39) |
D126E |
probably damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,880,153 (GRCm39) |
F278I |
possibly damaging |
Het |
| Sos1 |
G |
T |
17: 80,705,719 (GRCm39) |
T1284N |
probably damaging |
Het |
| Sp2 |
T |
A |
11: 96,847,036 (GRCm39) |
Q475L |
probably damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,444,917 (GRCm39) |
T2134S |
possibly damaging |
Het |
| Tbx1 |
C |
A |
16: 18,401,552 (GRCm39) |
A300S |
probably benign |
Het |
| Uap1 |
A |
C |
1: 169,994,281 (GRCm39) |
V65G |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,278,123 (GRCm39) |
T738I |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,758,297 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r116 |
T |
G |
17: 23,603,907 (GRCm39) |
I44S |
probably benign |
Het |
| Xkr8 |
A |
T |
4: 132,455,688 (GRCm39) |
Y228* |
probably null |
Het |
| Zbtb20 |
A |
G |
16: 43,430,025 (GRCm39) |
I106V |
possibly damaging |
Het |
| Zc3h7a |
C |
T |
16: 10,964,259 (GRCm39) |
S683N |
probably benign |
Het |
| Zfp146 |
A |
T |
7: 29,861,905 (GRCm39) |
C46S |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,662 (GRCm39) |
E152G |
possibly damaging |
Het |
| Zfp90 |
T |
C |
8: 107,146,156 (GRCm39) |
V57A |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,621,718 (GRCm39) |
N816K |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation