Incidental Mutation 'R9364:Nfx1'
| ID |
708823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfx1
|
| Ensembl Gene |
ENSMUSG00000028423 |
| Gene Name |
nuclear transcription factor, X-box binding 1 |
| Synonyms |
1300017N15Rik, Tex42, 3000003M19Rik, TEG-42 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.447)
|
| Stock # |
R9364 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
40970906-41025993 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41023756 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1055
(V1055A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098143]
|
| AlphaFold |
B1AY10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098143
AA Change: V1055A
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095747
Gene: ENSMUSG00000028423
AA Change: V1055A
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 29,247,623 |
|
probably benign |
Het |
| Ankrd17 |
C |
T |
5: 90,268,649 |
R1108Q |
probably damaging |
Het |
| Ccdc136 |
C |
T |
6: 29,405,961 |
A102V |
probably damaging |
Het |
| Ccnyl1 |
A |
G |
1: 64,714,591 |
Y187C |
probably damaging |
Het |
| Copa |
G |
A |
1: 172,117,264 |
V882I |
probably benign |
Het |
| Cyp17a1 |
C |
T |
19: 46,668,726 |
R361H |
probably damaging |
Het |
| Ddx49 |
T |
C |
8: 70,293,576 |
T459A |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 32,964,732 |
N1133S |
probably benign |
Het |
| Dnajc18 |
T |
C |
18: 35,675,207 |
D329G |
probably damaging |
Het |
| Dusp16 |
G |
A |
6: 134,719,019 |
P283L |
probably damaging |
Het |
| Efcab12 |
A |
G |
6: 115,838,014 |
V40A |
probably benign |
Het |
| Emb |
G |
T |
13: 117,220,560 |
|
probably benign |
Het |
| Fam120b |
G |
A |
17: 15,405,758 |
A458T |
possibly damaging |
Het |
| Fgd4 |
G |
A |
16: 16,490,489 |
T9I |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,154,775 |
D164N |
possibly damaging |
Het |
| Klf13 |
T |
A |
7: 63,924,861 |
|
probably benign |
Het |
| Lrrc47 |
T |
C |
4: 154,015,941 |
S325P |
possibly damaging |
Het |
| Mast3 |
C |
T |
8: 70,786,182 |
V493M |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,905,809 |
T200A |
probably benign |
Het |
| Mettl15 |
T |
A |
2: 109,131,615 |
Q216H |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,892,510 |
D561G |
probably null |
Het |
| Ms4a4a |
G |
A |
19: 11,390,344 |
M191I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,200,716 |
N1922I |
|
Het |
| Myo7b |
T |
C |
18: 32,000,360 |
I371V |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,355,839 |
S1697P |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,270,971 |
T145A |
probably benign |
Het |
| Ntng1 |
C |
T |
3: 110,135,364 |
A49T |
probably damaging |
Het |
| Oc90 |
G |
A |
15: 65,889,588 |
P194S |
probably benign |
Het |
| Olfr1087 |
A |
T |
2: 86,690,231 |
V248D |
possibly damaging |
Het |
| Olfr1375 |
T |
A |
11: 51,048,396 |
Y96* |
probably null |
Het |
| Olfr169 |
T |
A |
16: 19,565,972 |
I304F |
possibly damaging |
Het |
| Olfr446 |
T |
A |
6: 42,927,600 |
I123N |
probably damaging |
Het |
| Opcml |
A |
C |
9: 28,903,328 |
N292T |
probably damaging |
Het |
| Oplah |
A |
G |
15: 76,309,587 |
S57P |
probably benign |
Het |
| Pdzd8 |
A |
T |
19: 59,345,142 |
L149Q |
probably damaging |
Het |
| Pid1 |
A |
G |
1: 84,159,311 |
V33A |
probably benign |
Het |
| Prpsap1 |
A |
G |
11: 116,494,189 |
|
probably benign |
Het |
| R3hdml |
T |
C |
2: 163,492,615 |
W42R |
probably benign |
Het |
| Rnase6 |
A |
T |
14: 51,130,405 |
N85Y |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,461,252 |
M1717L |
possibly damaging |
Het |
| Setbp1 |
C |
T |
18: 78,783,384 |
S1338N |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,224,152 |
T389A |
probably benign |
Het |
| Sh2d4a |
G |
A |
8: 68,294,366 |
G82D |
probably damaging |
Het |
| Skint9 |
A |
T |
4: 112,391,718 |
M171K |
probably benign |
Het |
| Slc5a11 |
C |
T |
7: 123,269,101 |
R505W |
probably damaging |
Het |
| Slx4 |
C |
A |
16: 3,987,956 |
M577I |
probably benign |
Het |
| Soga3 |
G |
A |
10: 29,196,779 |
R689Q |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 126,450,723 |
V737I |
probably benign |
Het |
| Tm7sf3 |
C |
T |
6: 146,623,681 |
D89N |
possibly damaging |
Het |
| Tmem100 |
A |
T |
11: 90,035,707 |
E120V |
probably damaging |
Het |
| Trim72 |
C |
T |
7: 128,010,001 |
T325M |
possibly damaging |
Het |
| Trpc2 |
G |
A |
7: 102,090,612 |
G581D |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,269,224 |
R202Q |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 5,070,628 |
S154P |
unknown |
Het |
| Uchl1 |
T |
A |
5: 66,676,306 |
M6K |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,219,819 |
M1K |
probably null |
Het |
| Wisp1 |
G |
A |
15: 66,913,051 |
R191K |
probably benign |
Het |
| Zfp429 |
T |
A |
13: 67,390,412 |
K304N |
probably benign |
Het |
| Zfp618 |
A |
G |
4: 63,118,587 |
N375D |
probably damaging |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,890,600 |
|
probably benign |
Het |
| Zfp78 |
A |
T |
7: 6,379,355 |
D468V |
probably benign |
Het |
| Zfp809 |
A |
C |
9: 22,239,098 |
Y297S |
probably damaging |
Het |
|
| Other mutations in Nfx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01377:Nfx1
|
APN |
4 |
40,977,241 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01998:Nfx1
|
APN |
4 |
41,004,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02072:Nfx1
|
APN |
4 |
41,016,119 (GRCm38) |
missense |
probably benign |
|
|
IGL02170:Nfx1
|
APN |
4 |
41,018,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02188:Nfx1
|
APN |
4 |
40,993,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02502:Nfx1
|
APN |
4 |
40,976,345 (GRCm38) |
splice site |
probably benign |
|
|
IGL02674:Nfx1
|
APN |
4 |
40,999,717 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03007:Nfx1
|
APN |
4 |
40,984,962 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03092:Nfx1
|
APN |
4 |
41,024,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03303:Nfx1
|
APN |
4 |
41,004,323 (GRCm38) |
splice site |
probably benign |
|
|
K7371:Nfx1
|
UTSW |
4 |
40,976,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Nfx1
|
UTSW |
4 |
40,977,244 (GRCm38) |
missense |
probably benign |
|
|
R0032:Nfx1
|
UTSW |
4 |
41,015,321 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0032:Nfx1
|
UTSW |
4 |
41,015,321 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0069:Nfx1
|
UTSW |
4 |
40,986,688 (GRCm38) |
splice site |
probably benign |
|
|
R1056:Nfx1
|
UTSW |
4 |
41,003,057 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1449:Nfx1
|
UTSW |
4 |
40,976,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1635:Nfx1
|
UTSW |
4 |
40,977,004 (GRCm38) |
missense |
probably benign |
|
|
R1636:Nfx1
|
UTSW |
4 |
41,016,072 (GRCm38) |
splice site |
probably null |
|
|
R1882:Nfx1
|
UTSW |
4 |
41,009,240 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R2089:Nfx1
|
UTSW |
4 |
40,977,004 (GRCm38) |
missense |
probably benign |
|
|
R2091:Nfx1
|
UTSW |
4 |
40,977,004 (GRCm38) |
missense |
probably benign |
|
|
R2091:Nfx1
|
UTSW |
4 |
40,977,004 (GRCm38) |
missense |
probably benign |
|
|
R3792:Nfx1
|
UTSW |
4 |
41,004,357 (GRCm38) |
nonsense |
probably null |
|
|
R3793:Nfx1
|
UTSW |
4 |
41,004,357 (GRCm38) |
nonsense |
probably null |
|
|
R4668:Nfx1
|
UTSW |
4 |
40,976,367 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4678:Nfx1
|
UTSW |
4 |
41,012,070 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4894:Nfx1
|
UTSW |
4 |
40,996,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4972:Nfx1
|
UTSW |
4 |
40,976,375 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5066:Nfx1
|
UTSW |
4 |
40,991,868 (GRCm38) |
missense |
probably benign |
|
|
R5389:Nfx1
|
UTSW |
4 |
40,985,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5429:Nfx1
|
UTSW |
4 |
41,004,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5643:Nfx1
|
UTSW |
4 |
40,984,973 (GRCm38) |
missense |
probably null |
1.00 |
|
R5644:Nfx1
|
UTSW |
4 |
40,984,973 (GRCm38) |
missense |
probably null |
1.00 |
|
R5915:Nfx1
|
UTSW |
4 |
40,977,285 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6286:Nfx1
|
UTSW |
4 |
40,986,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6393:Nfx1
|
UTSW |
4 |
40,976,851 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7409:Nfx1
|
UTSW |
4 |
41,021,830 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7523:Nfx1
|
UTSW |
4 |
41,016,119 (GRCm38) |
missense |
probably benign |
|
|
R7916:Nfx1
|
UTSW |
4 |
40,977,142 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8497:Nfx1
|
UTSW |
4 |
40,976,968 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8799:Nfx1
|
UTSW |
4 |
41,023,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9154:Nfx1
|
UTSW |
4 |
40,990,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9497:Nfx1
|
UTSW |
4 |
40,994,104 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0025:Nfx1
|
UTSW |
4 |
40,976,422 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGCATGGAAATGATCAGTC -3'
(R):5'- ACTTGGGTACTAGGGTGCAC -3'
Sequencing Primer
(F):5'- AGGGCATGGAAATGATCAGTCTTCTC -3'
(R):5'- AGAGGTGTGCGCTCTGCTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation