Incidental Mutation 'R0370:Rfx2'
ID |
65600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx2
|
Ensembl Gene |
ENSMUSG00000024206 |
Gene Name |
regulatory factor X, 2 (influences HLA class II expression) |
Synonyms |
5430432H19Rik |
MMRRC Submission |
038576-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.747)
|
Stock # |
R0370 (G1)
|
Quality Score |
141 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
57082897-57138013 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57106308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 175
(E175G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002444]
[ENSMUST00000086801]
|
AlphaFold |
P48379 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002444
AA Change: E175G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000002444 Gene: ENSMUSG00000024206 AA Change: E175G
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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l1 |
T |
C |
8: 124,228,293 (GRCm39) |
S666P |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,514,980 (GRCm39) |
W263R |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,732,899 (GRCm39) |
N270S |
possibly damaging |
Het |
Ctdp1 |
T |
C |
18: 80,492,569 (GRCm39) |
E642G |
probably damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,909,531 (GRCm39) |
K433M |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,721,056 (GRCm39) |
V435A |
possibly damaging |
Het |
Defa26 |
A |
T |
8: 22,108,875 (GRCm39) |
M87L |
probably benign |
Het |
Dnah11 |
T |
A |
12: 117,958,962 (GRCm39) |
I2974L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,685,943 (GRCm39) |
D131G |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,725,861 (GRCm39) |
S1447R |
probably benign |
Het |
Dtl |
G |
T |
1: 191,307,462 (GRCm39) |
N17K |
probably benign |
Het |
Grid2 |
A |
G |
6: 64,322,718 (GRCm39) |
I573V |
possibly damaging |
Het |
Hoxa9 |
T |
C |
6: 52,202,684 (GRCm39) |
E134G |
possibly damaging |
Het |
Kcnn3 |
A |
T |
3: 89,574,399 (GRCm39) |
N637I |
probably damaging |
Het |
Ktn1 |
T |
C |
14: 47,901,532 (GRCm39) |
F97L |
probably benign |
Het |
Lmbrd2 |
T |
C |
15: 9,165,939 (GRCm39) |
I271T |
probably damaging |
Het |
Lrp6 |
A |
C |
6: 134,456,729 (GRCm39) |
I845S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,879,891 (GRCm39) |
N994K |
probably benign |
Het |
Mrrf |
A |
T |
2: 36,067,125 (GRCm39) |
|
probably null |
Het |
Mtmr1 |
G |
A |
X: 70,431,837 (GRCm39) |
V125I |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,057 (GRCm39) |
N88I |
probably benign |
Het |
Or51k1 |
T |
G |
7: 103,661,266 (GRCm39) |
L214F |
probably damaging |
Het |
Or8k3 |
A |
T |
2: 86,059,057 (GRCm39) |
V86D |
probably damaging |
Het |
Paxip1 |
C |
A |
5: 27,965,084 (GRCm39) |
V659F |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,571,104 (GRCm39) |
V163A |
probably damaging |
Het |
Pkn3 |
T |
A |
2: 29,977,184 (GRCm39) |
H641Q |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,347,623 (GRCm39) |
R444C |
probably damaging |
Het |
Samd9l |
A |
C |
6: 3,377,264 (GRCm39) |
|
probably benign |
Het |
Sec14l5 |
A |
T |
16: 4,998,570 (GRCm39) |
T537S |
probably damaging |
Het |
Serpinb9d |
A |
G |
13: 33,379,949 (GRCm39) |
E96G |
probably damaging |
Het |
Setd4 |
T |
C |
16: 93,388,006 (GRCm39) |
E160G |
probably damaging |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,413 (GRCm39) |
I308V |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,339,644 (GRCm39) |
N100Y |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,071,545 (GRCm39) |
S1475R |
probably benign |
Het |
Tecta |
T |
C |
9: 42,278,100 (GRCm39) |
D1136G |
probably benign |
Het |
Tmem94 |
G |
C |
11: 115,679,543 (GRCm39) |
R273S |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,395,730 (GRCm39) |
S1225P |
possibly damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,239,834 (GRCm39) |
Y184H |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,662,150 (GRCm39) |
M555K |
probably benign |
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 |
IGL02389:Rfx2
|
APN |
17 |
57,115,325 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGAGATAACTTGACCCCAGGGAC -3'
(R):5'- TGCATGGCACACAGCCTTGAAC -3'
Sequencing Primer
(F):5'- GGACATGTGCCATCACCAG -3'
(R):5'- TGCCTGCCTCTAACCATCTG -3'
|
Posted On |
2013-08-08 |