Incidental Mutation 'R5915:Nfx1'
| ID |
461246 |
| 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 |
044112-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.592)
|
| Stock # |
R5915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
40970906-41025992 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40977285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 320
(S320T)
|
| 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: S320T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000030133
Gene: ENSMUSG00000028423
AA Change: S320T
| 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: S320T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000089203
Gene: ENSMUSG00000028423
AA Change: S320T
| 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: S320T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000095747
Gene: ENSMUSG00000028423
AA Change: S320T
| 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 |
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,550,748 (GRCm39) |
|
probably null |
Het |
| Alox12e |
T |
C |
11: 70,209,050 (GRCm39) |
I399V |
possibly damaging |
Het |
| Apoa5 |
C |
A |
9: 46,180,607 (GRCm39) |
Q42K |
probably damaging |
Het |
| Arfgap1 |
A |
G |
2: 180,620,215 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Arhgap12 |
A |
G |
18: 6,037,016 (GRCm39) |
|
probably null |
Het |
| Arl16 |
G |
A |
11: 120,357,431 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,370,577 (GRCm39) |
D951G |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,942,955 (GRCm39) |
L80Q |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,822,176 (GRCm39) |
V1714I |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,914,550 (GRCm39) |
R1141H |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,252,775 (GRCm39) |
L351P |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,405,829 (GRCm39) |
|
probably benign |
Het |
| Dpy30 |
G |
T |
17: 74,622,906 (GRCm39) |
D25E |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,935,152 (GRCm39) |
W998R |
probably damaging |
Het |
| Fibp |
A |
G |
19: 5,513,644 (GRCm39) |
D220G |
possibly damaging |
Het |
| Grm3 |
C |
T |
5: 9,561,927 (GRCm39) |
C641Y |
probably damaging |
Het |
| Gulo |
A |
T |
14: 66,245,570 (GRCm39) |
V8D |
probably benign |
Het |
| Ifrd1 |
A |
T |
12: 40,263,095 (GRCm39) |
C164S |
possibly damaging |
Het |
| Jam2 |
G |
A |
16: 84,606,295 (GRCm39) |
S103N |
probably benign |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,444 (GRCm39) |
T108A |
unknown |
Het |
| Man2a2 |
A |
G |
7: 80,010,669 (GRCm39) |
F774S |
probably benign |
Het |
| Map1b |
G |
A |
13: 99,566,839 (GRCm39) |
R1961W |
unknown |
Het |
| Mib2 |
A |
G |
4: 155,740,508 (GRCm39) |
|
probably benign |
Het |
| Mr1 |
A |
T |
1: 155,012,534 (GRCm39) |
F127I |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,554 (GRCm39) |
I57T |
probably benign |
Het |
| Ncan |
G |
T |
8: 70,550,731 (GRCm39) |
Y1154* |
probably null |
Het |
| Nlrp4f |
A |
G |
13: 65,335,369 (GRCm39) |
L740P |
probably damaging |
Het |
| Nprl2 |
T |
C |
9: 107,422,277 (GRCm39) |
|
probably benign |
Het |
| Opn1sw |
A |
G |
6: 29,379,754 (GRCm39) |
|
probably null |
Het |
| Or5bw2 |
A |
T |
7: 6,573,172 (GRCm39) |
I61F |
probably benign |
Het |
| Palld |
A |
G |
8: 61,986,386 (GRCm39) |
|
probably null |
Het |
| Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,433,549 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
T |
7: 109,977,303 (GRCm39) |
C610* |
probably null |
Het |
| Sec24a |
C |
T |
11: 51,646,964 (GRCm39) |
A13T |
probably benign |
Het |
| Smim8 |
TCTCCTC |
TCTC |
4: 34,769,010 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
A |
C |
17: 25,786,443 (GRCm39) |
L420R |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,612 (GRCm39) |
Q349H |
unknown |
Het |
| Sspo |
A |
G |
6: 48,441,530 (GRCm39) |
D1889G |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,468,418 (GRCm39) |
H4382L |
possibly damaging |
Het |
| Tmem65 |
T |
C |
15: 58,662,037 (GRCm39) |
I141V |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,301,400 (GRCm39) |
T1329S |
probably benign |
Het |
| Trim17 |
C |
T |
11: 58,859,388 (GRCm39) |
R201W |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,182 (GRCm39) |
L399P |
possibly damaging |
Het |
| Trim7 |
A |
G |
11: 48,736,477 (GRCm39) |
D277G |
possibly damaging |
Het |
| Vstm2b |
A |
G |
7: 40,552,107 (GRCm39) |
N153S |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,231,561 (GRCm39) |
Q786K |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,154,720 (GRCm39) |
*286W |
probably null |
Het |
| Xpot |
A |
T |
10: 121,450,998 (GRCm39) |
L134Q |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,982,466 (GRCm39) |
Q20* |
probably null |
Het |
| Zfp599 |
C |
T |
9: 22,161,130 (GRCm39) |
C345Y |
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 |
|
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 |
|
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 |
|
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'- TGAGCAGAGAAGATATCCCCAG -3'
(R):5'- ACTGTGGAATCCAAGCAGGTAG -3'
Sequencing Primer
(F):5'- AAAGGCCTCCCTGGGAAGTG -3'
(R):5'- TCCAAGCAGGTAGAGATTTCACTGTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation