Incidental Mutation 'IGL01705:Rfx2'
| ID |
104575 |
| 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 # |
IGL01705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57082897-57138013 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57092303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 332
(Y332H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002444]
[ENSMUST00000086801]
|
| AlphaFold |
P48379 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002444
AA Change: Y332H
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: Y332H
| 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 |
possibly damaging
Transcript: ENSMUST00000086801
AA Change: Y307H
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: Y307H
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,038 (GRCm39) |
T1077A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,396,515 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Anks3 |
A |
T |
16: 4,765,587 (GRCm39) |
W172R |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,299,369 (GRCm39) |
N633K |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,883 (GRCm39) |
S326C |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,736 (GRCm39) |
K900E |
possibly damaging |
Het |
| Cd5 |
A |
T |
19: 10,703,659 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,924 (GRCm39) |
N284K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,678,788 (GRCm39) |
A38V |
probably damaging |
Het |
| Eny2 |
C |
A |
15: 44,295,831 (GRCm39) |
|
probably null |
Het |
| Grm5 |
A |
G |
7: 87,779,254 (GRCm39) |
Q930R |
possibly damaging |
Het |
| Igkv4-73 |
A |
T |
6: 69,174,709 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,065,270 (GRCm39) |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 75,081,042 (GRCm39) |
|
probably null |
Het |
| Neto2 |
T |
C |
8: 86,367,632 (GRCm39) |
K371E |
probably damaging |
Het |
| Or8g52 |
T |
C |
9: 39,630,877 (GRCm39) |
M118T |
possibly damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,813,876 (GRCm39) |
F834L |
probably benign |
Het |
| Paxip1 |
A |
T |
5: 27,953,857 (GRCm39) |
S946R |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,879 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,308,401 (GRCm39) |
L331P |
probably damaging |
Het |
| Reep1 |
A |
G |
6: 71,750,272 (GRCm39) |
T95A |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,688,393 (GRCm39) |
D1288E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,930,046 (GRCm39) |
M582V |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,931 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
G |
7: 107,035,559 (GRCm39) |
L192R |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,473 (GRCm39) |
K478R |
probably benign |
Het |
| Tmem115 |
G |
T |
9: 107,412,403 (GRCm39) |
L242F |
probably benign |
Het |
| Tmt1b |
T |
A |
10: 128,794,731 (GRCm39) |
I198F |
probably benign |
Het |
| Tnfaip1 |
T |
C |
11: 78,416,294 (GRCm39) |
D263G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,884 (GRCm39) |
I69F |
probably damaging |
Het |
| Vps52 |
T |
C |
17: 34,185,042 (GRCm39) |
L712P |
probably 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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation