Incidental Mutation 'R6210:Rfx1'
| ID |
503407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx1
|
| Ensembl Gene |
ENSMUSG00000031706 |
| Gene Name |
regulatory factor X, 1 (influences HLA class II expression) |
| Synonyms |
|
| MMRRC Submission |
044344-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84793463-84823621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84819647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 653
(L653P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005600]
[ENSMUST00000041367]
[ENSMUST00000210279]
[ENSMUST00000211046]
|
| AlphaFold |
P48377 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005600
AA Change: L653P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706
AA Change: L653P
| 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 |
noncoding transcript
Transcript: ENSMUST00000210660
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211046
AA Change: L653P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.3836 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
95% (52/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
A |
18: 10,706,032 (GRCm39) |
I94F |
probably damaging |
Het |
| Bbox1 |
A |
T |
2: 110,100,422 (GRCm39) |
D258E |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,378,827 (GRCm39) |
|
probably null |
Het |
| Ccdc127 |
T |
C |
13: 74,505,040 (GRCm39) |
V196A |
probably benign |
Het |
| Cd101 |
A |
T |
3: 100,925,959 (GRCm39) |
D253E |
probably damaging |
Het |
| Ceacam15 |
T |
C |
7: 16,407,214 (GRCm39) |
Y101C |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,772,570 (GRCm39) |
L652F |
probably benign |
Het |
| Col5a1 |
G |
T |
2: 27,922,633 (GRCm39) |
V234L |
probably benign |
Het |
| Cxcr6 |
T |
C |
9: 123,639,073 (GRCm39) |
S25P |
possibly damaging |
Het |
| Dctn4 |
C |
T |
18: 60,679,865 (GRCm39) |
Q258* |
probably null |
Het |
| Fmnl2 |
A |
T |
2: 53,020,457 (GRCm39) |
N1067I |
possibly damaging |
Het |
| Frrs1 |
A |
T |
3: 116,672,080 (GRCm39) |
K59N |
probably benign |
Het |
| Gpr157 |
T |
C |
4: 150,186,055 (GRCm39) |
Y206H |
probably damaging |
Het |
| Hephl1 |
A |
G |
9: 15,001,860 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Hinfp |
C |
T |
9: 44,210,169 (GRCm39) |
|
probably null |
Het |
| Igf2r |
A |
T |
17: 12,933,838 (GRCm39) |
N805K |
probably damaging |
Het |
| Ilrun |
A |
T |
17: 27,986,960 (GRCm39) |
D255E |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,717 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,351 (GRCm39) |
|
probably null |
Het |
| Kcnip1 |
G |
A |
11: 33,595,600 (GRCm39) |
T30I |
possibly damaging |
Het |
| Lig4 |
T |
C |
8: 10,021,585 (GRCm39) |
T732A |
probably benign |
Het |
| Lmod3 |
T |
A |
6: 97,224,262 (GRCm39) |
T520S |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,043,145 (GRCm39) |
V1356I |
possibly damaging |
Het |
| Mical3 |
C |
T |
6: 121,017,478 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
C |
5: 115,573,535 (GRCm39) |
I8T |
probably damaging |
Het |
| Mug4-ps |
A |
T |
6: 121,927,276 (GRCm39) |
|
noncoding transcript |
Het |
| Myo1f |
T |
A |
17: 33,820,044 (GRCm39) |
I783N |
probably damaging |
Het |
| Nr6a1 |
A |
C |
2: 38,619,509 (GRCm39) |
I462S |
probably damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,090 (GRCm39) |
A241T |
probably damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,702 (GRCm39) |
V8A |
probably benign |
Het |
| Pah |
C |
A |
10: 87,419,423 (GRCm39) |
Q449K |
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,263,839 (GRCm39) |
V271A |
probably damaging |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Psg21 |
A |
G |
7: 18,386,270 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,109,949 (GRCm39) |
Y180C |
probably damaging |
Het |
| Raet1d |
T |
A |
10: 22,246,849 (GRCm39) |
I59N |
probably damaging |
Het |
| Rnase2a |
A |
G |
14: 51,493,131 (GRCm39) |
V78A |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Serbp1 |
T |
C |
6: 67,249,851 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,082,629 (GRCm39) |
H649Q |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,656,731 (GRCm39) |
D719E |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,066,698 (GRCm39) |
S318R |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,039,806 (GRCm39) |
Q187R |
probably damaging |
Het |
| Ung |
C |
T |
5: 114,269,438 (GRCm39) |
A50V |
probably benign |
Het |
| Upk3bl |
C |
T |
5: 136,088,674 (GRCm39) |
Q103* |
probably null |
Het |
| Usp17le |
C |
A |
7: 104,418,350 (GRCm39) |
C264F |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,758 (GRCm39) |
N140Y |
probably damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,114 (GRCm39) |
C702Y |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zfp748 |
G |
A |
13: 67,688,923 (GRCm39) |
P779L |
possibly damaging |
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 |
|
IGL02741:Rfx1
|
APN |
8 |
84,822,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGATACAACCTTAGCCAGCC -3'
(R):5'- CCAGGCTCTTGGCAAAGTTC -3'
Sequencing Primer
(F):5'- ACCTTAGCCAGCCCAGTGAG -3'
(R):5'- ATTGCTTGGGTCAAGGCACC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation