Incidental Mutation 'IGL02389:Rfx2'
ID |
291702 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rfx2
|
Ensembl Gene |
ENSMUSG00000024206 |
Gene Name |
regulatory factor X, 2 (influences HLA class II expression) |
Synonyms |
5430432H19Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.747)
|
Stock # |
IGL02389
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
57082897-57138013 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 57115325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002444]
[ENSMUST00000086801]
|
AlphaFold |
P48379 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002444
|
SMART Domains |
Protein: ENSMUSP00000002444 Gene: ENSMUSG00000024206
Domain | Start | End | E-Value | Type |
Pfam:RFX1_trans_act
|
4 |
149 |
1.9e-50 |
PFAM |
Pfam:RFX_DNA_binding
|
192 |
269 |
4.3e-36 |
PFAM |
Blast:HisKA
|
479 |
542 |
1e-31 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086801
|
SMART Domains |
Protein: ENSMUSP00000084010 Gene: ENSMUSG00000024206
Domain | Start | End | E-Value | Type |
Pfam:RFX1_trans_act
|
1 |
151 |
6.8e-56 |
PFAM |
Pfam:RFX_DNA_binding
|
161 |
246 |
6e-41 |
PFAM |
Blast:HisKA
|
454 |
517 |
1e-31 |
BLAST |
|
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 is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene trapped allele are viable and lack an obvious embryonic phenotype but exhibit male infertility associated with a defect in spermatid maturation at or before the round and elongating spermatid stage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
A |
5: 64,053,826 (GRCm39) |
S11N |
probably null |
Het |
Aqp9 |
T |
C |
9: 71,030,188 (GRCm39) |
I200V |
possibly damaging |
Het |
Cntn2 |
T |
C |
1: 132,453,059 (GRCm39) |
E411G |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,438,905 (GRCm39) |
D1091G |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,589,567 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
A |
16: 96,442,097 (GRCm39) |
I1577F |
probably benign |
Het |
Egflam |
A |
T |
15: 7,279,559 (GRCm39) |
N482K |
probably benign |
Het |
Fam216a |
T |
C |
5: 122,505,574 (GRCm39) |
T129A |
probably damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,136 (GRCm39) |
M325V |
probably benign |
Het |
Fbxw8 |
C |
T |
5: 118,267,020 (GRCm39) |
V148M |
possibly damaging |
Het |
Fcgbp |
C |
T |
7: 27,774,596 (GRCm39) |
R57C |
probably damaging |
Het |
Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,616,729 (GRCm39) |
T408A |
probably benign |
Het |
H2-T3 |
A |
G |
17: 36,497,500 (GRCm39) |
M59T |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,258,187 (GRCm39) |
Q278* |
probably null |
Het |
Krtap21-1 |
C |
T |
16: 89,200,312 (GRCm39) |
G110D |
unknown |
Het |
Myo7a |
C |
T |
7: 97,756,198 (GRCm39) |
|
probably null |
Het |
Nlrp9c |
T |
A |
7: 26,093,632 (GRCm39) |
Q11L |
probably benign |
Het |
Or14a257 |
A |
G |
7: 86,138,336 (GRCm39) |
L141P |
probably damaging |
Het |
Or5b94 |
A |
T |
19: 12,651,899 (GRCm39) |
D110V |
probably benign |
Het |
Or6c75 |
T |
A |
10: 129,336,939 (GRCm39) |
M62K |
probably benign |
Het |
Or6c8 |
A |
C |
10: 128,915,099 (GRCm39) |
I244M |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,825 (GRCm39) |
I525T |
probably benign |
Het |
Pign |
A |
T |
1: 105,574,506 (GRCm39) |
L280* |
probably null |
Het |
Pik3r4 |
T |
G |
9: 105,527,530 (GRCm39) |
I294M |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Prmt3 |
C |
T |
7: 49,498,506 (GRCm39) |
Q471* |
probably null |
Het |
Prrc2c |
A |
G |
1: 162,520,439 (GRCm39) |
F2006L |
probably damaging |
Het |
Ptger3 |
C |
T |
3: 157,272,808 (GRCm39) |
R52C |
probably damaging |
Het |
Sh3bp4 |
T |
C |
1: 89,072,870 (GRCm39) |
F573L |
probably damaging |
Het |
Slc18a2 |
G |
T |
19: 59,251,733 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,857,624 (GRCm39) |
I840F |
probably benign |
Het |
Slc5a4b |
A |
T |
10: 75,908,299 (GRCm39) |
Y364* |
probably null |
Het |
Slitrk1 |
A |
G |
14: 109,149,754 (GRCm39) |
I319T |
probably benign |
Het |
Stxbp5l |
C |
T |
16: 37,028,567 (GRCm39) |
A499T |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,861,503 (GRCm39) |
S951R |
probably benign |
Het |
Trim30c |
A |
G |
7: 104,031,381 (GRCm39) |
F478S |
probably benign |
Het |
Tyro3 |
C |
T |
2: 119,635,345 (GRCm39) |
|
probably benign |
Het |
Vmn1r34 |
A |
T |
6: 66,614,042 (GRCm39) |
L232Q |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,315,816 (GRCm39) |
C215S |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,782,043 (GRCm39) |
P1995S |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,790,364 (GRCm39) |
V2106D |
possibly damaging |
Het |
|
Other mutations in Rfx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01294:Rfx2
|
APN |
17 |
57,090,657 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01296:Rfx2
|
APN |
17 |
57,115,317 (GRCm39) |
start codon destroyed |
possibly damaging |
0.81 |
IGL01488:Rfx2
|
APN |
17 |
57,112,398 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01705:Rfx2
|
APN |
17 |
57,092,303 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02601:Rfx2
|
APN |
17 |
57,092,354 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02609:Rfx2
|
APN |
17 |
57,112,404 (GRCm39) |
missense |
probably benign |
0.00 |
R0066:Rfx2
|
UTSW |
17 |
57,093,736 (GRCm39) |
splice site |
probably benign |
|
R0066:Rfx2
|
UTSW |
17 |
57,093,736 (GRCm39) |
splice site |
probably benign |
|
R0197:Rfx2
|
UTSW |
17 |
57,110,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R0370:Rfx2
|
UTSW |
17 |
57,106,308 (GRCm39) |
missense |
probably benign |
0.03 |
R0413:Rfx2
|
UTSW |
17 |
57,091,418 (GRCm39) |
splice site |
probably benign |
|
R0622:Rfx2
|
UTSW |
17 |
57,084,071 (GRCm39) |
missense |
probably damaging |
0.99 |
R0883:Rfx2
|
UTSW |
17 |
57,110,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R1429:Rfx2
|
UTSW |
17 |
57,111,369 (GRCm39) |
missense |
probably damaging |
0.97 |
R1439:Rfx2
|
UTSW |
17 |
57,094,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R1569:Rfx2
|
UTSW |
17 |
57,111,326 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1654:Rfx2
|
UTSW |
17 |
57,115,263 (GRCm39) |
missense |
probably benign |
0.00 |
R1751:Rfx2
|
UTSW |
17 |
57,091,754 (GRCm39) |
missense |
probably benign |
0.01 |
R1816:Rfx2
|
UTSW |
17 |
57,115,305 (GRCm39) |
nonsense |
probably null |
|
R2282:Rfx2
|
UTSW |
17 |
57,110,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R3408:Rfx2
|
UTSW |
17 |
57,110,526 (GRCm39) |
missense |
probably benign |
0.00 |
R3962:Rfx2
|
UTSW |
17 |
57,092,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R4415:Rfx2
|
UTSW |
17 |
57,094,733 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4876:Rfx2
|
UTSW |
17 |
57,091,706 (GRCm39) |
missense |
probably benign |
0.00 |
R4883:Rfx2
|
UTSW |
17 |
57,090,747 (GRCm39) |
missense |
probably damaging |
0.98 |
R5588:Rfx2
|
UTSW |
17 |
57,086,890 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5766:Rfx2
|
UTSW |
17 |
57,110,587 (GRCm39) |
missense |
probably benign |
0.02 |
R5798:Rfx2
|
UTSW |
17 |
57,111,362 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5931:Rfx2
|
UTSW |
17 |
57,087,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R6061:Rfx2
|
UTSW |
17 |
57,084,473 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6466:Rfx2
|
UTSW |
17 |
57,091,397 (GRCm39) |
missense |
probably benign |
0.13 |
R6800:Rfx2
|
UTSW |
17 |
57,087,804 (GRCm39) |
missense |
probably damaging |
0.99 |
R7329:Rfx2
|
UTSW |
17 |
57,110,681 (GRCm39) |
missense |
probably benign |
0.05 |
R7476:Rfx2
|
UTSW |
17 |
57,110,527 (GRCm39) |
missense |
probably benign |
0.31 |
R8159:Rfx2
|
UTSW |
17 |
57,110,605 (GRCm39) |
missense |
probably benign |
0.43 |
R8274:Rfx2
|
UTSW |
17 |
57,111,348 (GRCm39) |
missense |
probably benign |
0.00 |
R8838:Rfx2
|
UTSW |
17 |
57,087,877 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8964:Rfx2
|
UTSW |
17 |
57,093,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R9663:Rfx2
|
UTSW |
17 |
57,087,895 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9786:Rfx2
|
UTSW |
17 |
57,087,890 (GRCm39) |
missense |
probably benign |
0.31 |
|
Posted On |
2015-04-16 |