Incidental Mutation 'R5429:Nfx1'
ID |
427060 |
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 |
042995-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.602)
|
Stock # |
R5429 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
40970906-41025992 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41004343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 705
(C705R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030133]
[ENSMUST00000091614]
[ENSMUST00000098143]
|
AlphaFold |
B1AY10 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030133
AA Change: C705R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030133 Gene: ENSMUSG00000028423 AA Change: C705R
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: ENSMUST00000091614
AA Change: C705R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089203 Gene: ENSMUSG00000028423 AA Change: C705R
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: C705R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095747 Gene: ENSMUSG00000028423 AA Change: C705R
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: ENSMUST00000143798
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
G |
7: 75,252,652 (GRCm39) |
S261A |
possibly damaging |
Het |
Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
Auts2 |
G |
A |
5: 131,501,173 (GRCm39) |
T289M |
probably damaging |
Het |
Btaf1 |
G |
A |
19: 36,972,257 (GRCm39) |
V1331I |
possibly damaging |
Het |
Ciz1 |
T |
A |
2: 32,266,055 (GRCm39) |
I609K |
possibly damaging |
Het |
Clca3b |
C |
T |
3: 144,552,220 (GRCm39) |
V154I |
probably damaging |
Het |
Csde1 |
A |
G |
3: 102,960,157 (GRCm39) |
T564A |
possibly damaging |
Het |
Csrnp2 |
A |
G |
15: 100,379,935 (GRCm39) |
V452A |
probably benign |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,744,177 (GRCm39) |
D677G |
probably damaging |
Het |
Filip1l |
A |
T |
16: 57,390,618 (GRCm39) |
E402V |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Ghr |
G |
A |
15: 3,418,157 (GRCm39) |
Q37* |
probably null |
Het |
Gm10770 |
C |
T |
2: 150,021,343 (GRCm39) |
R58H |
probably benign |
Het |
Gm12789 |
T |
C |
4: 101,847,158 (GRCm39) |
Y148H |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,110,792 (GRCm39) |
N234K |
probably benign |
Het |
Itih3 |
A |
G |
14: 30,645,478 (GRCm39) |
V10A |
probably benign |
Het |
Kat14 |
T |
A |
2: 144,235,243 (GRCm39) |
D234E |
probably benign |
Het |
Kif13a |
A |
G |
13: 46,926,245 (GRCm39) |
|
probably null |
Het |
Kif2b |
A |
G |
11: 91,468,055 (GRCm39) |
V76A |
probably benign |
Het |
Mboat1 |
A |
G |
13: 30,403,650 (GRCm39) |
T150A |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,507,293 (GRCm39) |
L398H |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Or13a27 |
A |
G |
7: 139,925,186 (GRCm39) |
F239L |
possibly damaging |
Het |
Or2ak5 |
T |
A |
11: 58,611,350 (GRCm39) |
N175Y |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,338,635 (GRCm39) |
S931P |
probably benign |
Het |
Pdpk1 |
T |
C |
17: 24,310,534 (GRCm39) |
E205G |
probably benign |
Het |
Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
Ppp2r5e |
T |
A |
12: 75,500,537 (GRCm39) |
D452V |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,208,751 (GRCm39) |
T185S |
probably damaging |
Het |
Rpusd4 |
T |
C |
9: 35,183,898 (GRCm39) |
V209A |
probably benign |
Het |
Safb |
T |
C |
17: 56,895,822 (GRCm39) |
V20A |
probably benign |
Het |
Scaf8 |
C |
A |
17: 3,247,385 (GRCm39) |
P903T |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,800,574 (GRCm39) |
S31P |
possibly damaging |
Het |
Slc9b1 |
T |
C |
3: 135,079,024 (GRCm39) |
|
probably null |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Tbc1d32 |
T |
C |
10: 55,904,089 (GRCm39) |
D1226G |
probably damaging |
Het |
Tlnrd1 |
G |
T |
7: 83,531,522 (GRCm39) |
T303N |
probably damaging |
Het |
Tmc1 |
G |
T |
19: 20,766,986 (GRCm39) |
N738K |
possibly damaging |
Het |
Tmem41a |
A |
G |
16: 21,753,606 (GRCm39) |
I255T |
probably benign |
Het |
Trim7 |
G |
A |
11: 48,740,782 (GRCm39) |
C293Y |
probably damaging |
Het |
Trpc6 |
C |
T |
9: 8,634,075 (GRCm39) |
Q385* |
probably null |
Het |
Ttc39b |
A |
G |
4: 83,162,190 (GRCm39) |
I330T |
possibly damaging |
Het |
Vil1 |
C |
T |
1: 74,471,490 (GRCm39) |
T757I |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,060,077 (GRCm39) |
V1201A |
probably damaging |
Het |
Zfp473 |
T |
A |
7: 44,382,272 (GRCm39) |
E686V |
possibly damaging |
Het |
Zfp998 |
G |
A |
13: 66,579,887 (GRCm39) |
P199S |
probably benign |
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 |
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 |
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'- ATTCGAGCTGTACAGTGAGG -3'
(R):5'- GATTGCTCAAAGTTTCTAGGAACC -3'
Sequencing Primer
(F):5'- AGGGAGTGCTCTGCTCAGTC -3'
(R):5'- GCTCTGGCTACAAGTAGTCCTG -3'
|
Posted On |
2016-09-01 |