Incidental Mutation 'R5066:Nfx1'
| ID |
388314 |
| 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 |
042656-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.447)
|
| Stock # |
R5066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
40970906-41025993 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40991868 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 519
(I519V)
|
| 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: I519V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030133
Gene: ENSMUSG00000028423
AA Change: I519V
| 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: I519V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000089203
Gene: ENSMUSG00000028423
AA Change: I519V
| 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: I519V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095747
Gene: ENSMUSG00000028423
AA Change: I519V
| 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: ENSMUST00000175121
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (45/45) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
T |
11: 70,616,591 (GRCm38) |
Y154F |
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,309,350 (GRCm38) |
|
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,474,550 (GRCm38) |
D11V |
probably damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,281,700 (GRCm38) |
A299T |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,316,105 (GRCm38) |
V1984D |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,525,299 (GRCm38) |
A2122G |
possibly damaging |
Het |
| Atp13a2 |
G |
A |
4: 141,005,138 (GRCm38) |
V905M |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,582,104 (GRCm38) |
G731R |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,994,193 (GRCm38) |
V1131A |
possibly damaging |
Het |
| BC049762 |
A |
G |
11: 51,254,424 (GRCm38) |
F112S |
probably damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,887,021 (GRCm38) |
V312E |
possibly damaging |
Het |
| Chic2 |
A |
G |
5: 75,027,156 (GRCm38) |
V81A |
possibly damaging |
Het |
| Drg1 |
A |
T |
11: 3,259,353 (GRCm38) |
I122N |
possibly damaging |
Het |
| Flt4 |
A |
G |
11: 49,634,163 (GRCm38) |
N612S |
possibly damaging |
Het |
| Gm11639 |
A |
G |
11: 104,720,664 (GRCm38) |
D444G |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,164,096 (GRCm38) |
|
probably benign |
Het |
| Heg1 |
G |
T |
16: 33,738,671 (GRCm38) |
R856S |
probably benign |
Het |
| Ice2 |
A |
C |
9: 69,408,291 (GRCm38) |
N143T |
probably benign |
Het |
| Igkv8-21 |
G |
A |
6: 70,315,443 (GRCm38) |
Q4* |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,096,420 (GRCm38) |
S524P |
probably damaging |
Het |
| Mndal |
C |
A |
1: 173,875,663 (GRCm38) |
A59S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,513,002 (GRCm38) |
E33G |
possibly damaging |
Het |
| Nedd4 |
T |
A |
9: 72,710,519 (GRCm38) |
D187E |
probably damaging |
Het |
| Olfr773 |
T |
C |
10: 129,186,564 (GRCm38) |
I286V |
possibly damaging |
Het |
| Olfr9 |
G |
A |
10: 128,990,791 (GRCm38) |
R293Q |
probably damaging |
Het |
| Padi1 |
T |
C |
4: 140,829,437 (GRCm38) |
N153S |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,240,946 (GRCm38) |
|
probably benign |
Het |
| Ppil2 |
A |
G |
16: 17,109,675 (GRCm38) |
Y18H |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,857,299 (GRCm38) |
M1051K |
probably damaging |
Het |
| Slc2a7 |
T |
A |
4: 150,160,116 (GRCm38) |
M347K |
probably damaging |
Het |
| Slc45a2 |
C |
A |
15: 11,012,607 (GRCm38) |
T232K |
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,240 (GRCm38) |
N891K |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,750,089 (GRCm38) |
Y899H |
possibly damaging |
Het |
| Sult1c1 |
T |
A |
17: 53,973,998 (GRCm38) |
I26F |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,677,644 (GRCm38) |
C341R |
probably damaging |
Het |
| Syk |
T |
A |
13: 52,641,982 (GRCm38) |
S538T |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,966,551 (GRCm38) |
T2840A |
probably benign |
Het |
| Thsd4 |
A |
G |
9: 59,976,332 (GRCm38) |
C924R |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,158,267 (GRCm38) |
S175P |
probably benign |
Het |
| Tmbim4 |
C |
T |
10: 120,217,632 (GRCm38) |
T112M |
probably benign |
Het |
| Tmprss11a |
A |
G |
5: 86,420,000 (GRCm38) |
|
probably null |
Het |
| Tnc |
C |
A |
4: 63,975,229 (GRCm38) |
D1698Y |
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 |
|
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 |
|
R9364:Nfx1
|
UTSW |
4 |
41,023,756 (GRCm38) |
missense |
probably benign |
0.31 |
|
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'- CAGTCTGTGTAGTGGGAACTTC -3'
(R):5'- CTATTCTGAGGCAGGGTCTG -3'
Sequencing Primer
(F):5'- AACTTCGGAGTGATGCATTTG -3'
(R):5'- GTCTGGCTGGATCATGACATACAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation