Incidental Mutation 'IGL02741:Rfx1'
| ID |
305890 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rfx1
|
| Ensembl Gene |
ENSMUSG00000031706 |
| Gene Name |
regulatory factor X, 1 (influences HLA class II expression) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02741
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84793463-84823621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84822471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 923
(Q923R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005600]
[ENSMUST00000041367]
[ENSMUST00000210279]
[ENSMUST00000211046]
|
| AlphaFold |
P48377 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005600
AA Change: Q923R
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706
AA Change: Q923R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
92 |
N/A |
INTRINSIC |
|
Pfam:RFX1_trans_act
|
106 |
176 |
9.6e-9 |
PFAM |
|
Pfam:RFX1_trans_act
|
211 |
366 |
1.8e-59 |
PFAM |
|
Pfam:RFX_DNA_binding
|
420 |
498 |
2.5e-35 |
PFAM |
|
Blast:HisKA
|
705 |
768 |
3e-28 |
BLAST |
|
low complexity region
|
908 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
948 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041367
|
| SMART Domains |
Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
Pfam:DCAF15_WD40
|
48 |
259 |
1.1e-84 |
PFAM |
|
low complexity region
|
275 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
384 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211046
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
T |
C |
2: 18,032,007 (GRCm39) |
Y37C |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,759,945 (GRCm39) |
C599S |
probably benign |
Het |
| Bcl6b |
C |
A |
11: 70,119,942 (GRCm39) |
R15L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,406,530 (GRCm39) |
D2262N |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,604,553 (GRCm39) |
M1007V |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,959,152 (GRCm39) |
K1032R |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,839,230 (GRCm39) |
M1583K |
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,726 (GRCm39) |
C186* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,633,136 (GRCm39) |
R40G |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,608,665 (GRCm39) |
R416G |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,355,294 (GRCm39) |
F385L |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,341,700 (GRCm39) |
S304P |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,123,263 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
T |
C |
15: 4,935,114 (GRCm39) |
F183S |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,312,316 (GRCm39) |
T334S |
probably damaging |
Het |
| Pigw |
C |
T |
11: 84,769,192 (GRCm39) |
V46I |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,701,631 (GRCm39) |
E1435G |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,290,253 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,570,590 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,051,521 (GRCm39) |
I247N |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,563,415 (GRCm39) |
F608I |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,150,707 (GRCm39) |
|
probably null |
Het |
| Slc6a20b |
C |
T |
9: 123,436,667 (GRCm39) |
V249M |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,961 (GRCm39) |
I783V |
possibly damaging |
Het |
| Swap70 |
G |
T |
7: 109,873,856 (GRCm39) |
M401I |
probably benign |
Het |
| Tmco4 |
A |
T |
4: 138,757,188 (GRCm39) |
I407F |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,967,912 (GRCm39) |
S340C |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,848,943 (GRCm39) |
E79G |
probably damaging |
Het |
| Ubr1 |
A |
C |
2: 120,771,572 (GRCm39) |
S439A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,710 (GRCm39) |
V176A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,568,077 (GRCm39) |
D67N |
probably benign |
Het |
| Wasf1 |
C |
T |
10: 40,806,705 (GRCm39) |
T116M |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,164 (GRCm39) |
M241K |
probably benign |
Het |
|
| Other mutations in Rfx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01612:Rfx1
|
APN |
8 |
84,819,601 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01779:Rfx1
|
APN |
8 |
84,819,291 (GRCm39) |
splice site |
probably benign |
|
|
IGL02505:Rfx1
|
APN |
8 |
84,822,438 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1565:Rfx1
|
UTSW |
8 |
84,800,575 (GRCm39) |
missense |
probably benign |
|
|
R1793:Rfx1
|
UTSW |
8 |
84,793,050 (GRCm39) |
unclassified |
probably benign |
|
|
R1808:Rfx1
|
UTSW |
8 |
84,821,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Rfx1
|
UTSW |
8 |
84,822,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4542:Rfx1
|
UTSW |
8 |
84,816,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Rfx1
|
UTSW |
8 |
84,809,374 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4995:Rfx1
|
UTSW |
8 |
84,806,743 (GRCm39) |
splice site |
probably null |
|
|
R5163:Rfx1
|
UTSW |
8 |
84,819,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5212:Rfx1
|
UTSW |
8 |
84,793,221 (GRCm39) |
unclassified |
probably benign |
|
|
R5227:Rfx1
|
UTSW |
8 |
84,800,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5401:Rfx1
|
UTSW |
8 |
84,793,005 (GRCm39) |
splice site |
probably null |
|
|
R5431:Rfx1
|
UTSW |
8 |
84,809,349 (GRCm39) |
nonsense |
probably null |
|
|
R5584:Rfx1
|
UTSW |
8 |
84,814,706 (GRCm39) |
splice site |
probably null |
|
|
R5693:Rfx1
|
UTSW |
8 |
84,800,533 (GRCm39) |
missense |
unknown |
|
|
R6210:Rfx1
|
UTSW |
8 |
84,819,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6715:Rfx1
|
UTSW |
8 |
84,822,444 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6920:Rfx1
|
UTSW |
8 |
84,822,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Rfx1
|
UTSW |
8 |
84,821,708 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7155:Rfx1
|
UTSW |
8 |
84,821,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7336:Rfx1
|
UTSW |
8 |
84,800,385 (GRCm39) |
start gained |
probably benign |
|
|
R7467:Rfx1
|
UTSW |
8 |
84,800,542 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8105:Rfx1
|
UTSW |
8 |
84,814,505 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8145:Rfx1
|
UTSW |
8 |
84,800,657 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8261:Rfx1
|
UTSW |
8 |
84,819,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8263:Rfx1
|
UTSW |
8 |
84,821,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Rfx1
|
UTSW |
8 |
84,806,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8680:Rfx1
|
UTSW |
8 |
84,818,084 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9302:Rfx1
|
UTSW |
8 |
84,817,662 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9473:Rfx1
|
UTSW |
8 |
84,819,903 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9766:Rfx1
|
UTSW |
8 |
84,814,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rfx1
|
UTSW |
8 |
84,816,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation