Incidental Mutation 'IGL03092:Nfx1'
| ID |
418414 |
| 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 # |
IGL03092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
40970906-41025992 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41024851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1108
(D1108G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098143]
|
| AlphaFold |
B1AY10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098143
AA Change: D1108G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095747
Gene: ENSMUSG00000028423
AA Change: D1108G
| 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: ENSMUST00000131305
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,200,119 (GRCm39) |
L491P |
probably damaging |
Het |
| Abcc6 |
T |
A |
7: 45,635,894 (GRCm39) |
D1051V |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,900,561 (GRCm39) |
M180T |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,989,424 (GRCm39) |
E133V |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,364,603 (GRCm39) |
N911D |
probably damaging |
Het |
| Cdcp3 |
G |
T |
7: 130,803,527 (GRCm39) |
|
probably null |
Het |
| Ces4a |
C |
T |
8: 105,874,836 (GRCm39) |
|
probably benign |
Het |
| Clec3b |
A |
T |
9: 122,980,100 (GRCm39) |
|
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,496,243 (GRCm39) |
|
probably benign |
Het |
| Ctsg |
T |
A |
14: 56,337,417 (GRCm39) |
*262L |
probably null |
Het |
| Cyp17a1 |
T |
A |
19: 46,661,050 (GRCm39) |
H78L |
possibly damaging |
Het |
| Dcaf13 |
C |
A |
15: 38,991,371 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
G |
T |
3: 35,975,141 (GRCm39) |
Q52K |
possibly damaging |
Het |
| Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,366,945 (GRCm39) |
|
probably benign |
Het |
| Dsel |
A |
G |
1: 111,787,793 (GRCm39) |
L914P |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,286,757 (GRCm39) |
F174L |
probably benign |
Het |
| Gm9116 |
A |
G |
3: 93,817,513 (GRCm39) |
|
noncoding transcript |
Het |
| Gspt1 |
C |
T |
16: 11,056,763 (GRCm39) |
V211I |
probably benign |
Het |
| Hmgb1 |
A |
T |
5: 148,987,508 (GRCm39) |
S14T |
probably benign |
Het |
| Igsf8 |
A |
G |
1: 172,140,096 (GRCm39) |
|
probably benign |
Het |
| Klf13 |
A |
G |
7: 63,541,417 (GRCm39) |
F237L |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,854,005 (GRCm39) |
I962N |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,447,478 (GRCm39) |
Y178C |
probably damaging |
Het |
| Or4d10c |
C |
A |
19: 12,065,230 (GRCm39) |
E309* |
probably null |
Het |
| Or52d1 |
A |
T |
7: 103,755,854 (GRCm39) |
I123F |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,122,583 (GRCm39) |
H717L |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,965,049 (GRCm39) |
Y712H |
probably damaging |
Het |
| Pramel16 |
C |
A |
4: 143,676,767 (GRCm39) |
K112N |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,238,795 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
C |
10: 51,974,902 (GRCm39) |
E1561G |
probably damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,154 (GRCm39) |
|
probably null |
Het |
| St18 |
A |
G |
1: 6,839,118 (GRCm39) |
|
probably benign |
Het |
| Ugp2 |
A |
G |
11: 21,279,722 (GRCm39) |
|
probably benign |
Het |
| Vmn1r70 |
T |
C |
7: 10,368,186 (GRCm39) |
S225P |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,397 (GRCm39) |
D161G |
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 |
|
|
IGL03007:Nfx1
|
APN |
4 |
40,984,962 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
Incidental Mutation