Incidental Mutation 'R0069:Nfx1'
| ID |
33087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfx1
|
| Ensembl Gene |
ENSMUSG00000028423 |
| Gene Name |
nuclear transcription factor, X-box binding 1 |
| Synonyms |
Tex42, 3000003M19Rik, 1300017N15Rik, TEG-42 |
| MMRRC Submission |
038360-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.602)
|
| Stock # |
R0069 (G1)
|
| Quality Score |
85 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
40970906-41025992 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 40986688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030133]
[ENSMUST00000091614]
[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 benign
Transcript: ENSMUST00000091614
|
| SMART Domains |
Protein: ENSMUSP00000089203
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 benign
Transcript: ENSMUST00000098143
|
| SMART Domains |
Protein: ENSMUSP00000095747
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 |
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
96% (52/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,096,109 (GRCm39) |
M392L |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,957,274 (GRCm39) |
|
probably null |
Het |
| Clec2g |
T |
A |
6: 128,925,716 (GRCm39) |
S42T |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,367 (GRCm39) |
I240V |
possibly damaging |
Het |
| D2hgdh |
G |
T |
1: 93,763,009 (GRCm39) |
V265L |
possibly damaging |
Het |
| Dctn2 |
A |
T |
10: 127,113,354 (GRCm39) |
|
probably null |
Het |
| Diablo |
A |
T |
5: 123,656,087 (GRCm39) |
S117R |
probably damaging |
Het |
| Ebf2 |
A |
T |
14: 67,647,499 (GRCm39) |
R349S |
probably damaging |
Het |
| Fam168a |
C |
T |
7: 100,484,618 (GRCm39) |
A252V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,202,256 (GRCm39) |
Y1299C |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,713,509 (GRCm39) |
|
probably null |
Het |
| Ifi206 |
A |
T |
1: 173,314,413 (GRCm39) |
V9D |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,307,954 (GRCm39) |
|
probably benign |
Het |
| Itgal |
A |
G |
7: 126,909,503 (GRCm39) |
T56A |
probably benign |
Het |
| Lzts3 |
T |
A |
2: 130,478,460 (GRCm39) |
T213S |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,566,356 (GRCm39) |
S2122P |
unknown |
Het |
| Mei4 |
C |
T |
9: 81,907,635 (GRCm39) |
Q223* |
probably null |
Het |
| Mpzl3 |
T |
C |
9: 44,979,550 (GRCm39) |
V167A |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,167,624 (GRCm39) |
T1070A |
probably benign |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Or10ak12 |
A |
T |
4: 118,666,887 (GRCm39) |
V58D |
probably damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,188 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ostm1 |
A |
C |
10: 42,568,952 (GRCm39) |
D37A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,968,871 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
T |
12: 69,256,661 (GRCm39) |
V288E |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,937,849 (GRCm39) |
S2P |
probably benign |
Het |
| Ppp2r5c |
A |
T |
12: 110,534,204 (GRCm39) |
M356L |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,544,368 (GRCm39) |
S1786N |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,893,116 (GRCm39) |
V443A |
possibly damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,756 (GRCm39) |
|
probably null |
Het |
| Ptger1 |
A |
T |
8: 84,394,948 (GRCm39) |
T142S |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
| Rnpepl1 |
T |
A |
1: 92,846,620 (GRCm39) |
N507K |
possibly damaging |
Het |
| Slc38a10 |
A |
T |
11: 119,997,328 (GRCm39) |
V722E |
probably damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,727,756 (GRCm39) |
H175Q |
probably damaging |
Het |
| Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
| Vmn1r208 |
A |
T |
13: 22,956,595 (GRCm39) |
W301R |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,789,133 (GRCm39) |
I746T |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,314,999 (GRCm39) |
V233A |
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,859 (GRCm39) |
S222T |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,875,098 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGGGTGAGAATTACATGGGACC -3'
(R):5'- CATCAGTGACTTCTGACACCAGACC -3'
Sequencing Primer
(F):5'- agtccctgcctctgtcttc -3'
(R):5'- ACTGAGGTGAGCACTACAGTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation