Incidental Mutation 'IGL02601:Rfx2'
| ID |
300092 |
| 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 # |
IGL02601
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57082897-57138013 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57092354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 315
(H315Y)
|
| 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: H315Y
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: H315Y
| 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
AA Change: H290Y
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: H290Y
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap1 |
C |
T |
5: 139,293,541 (GRCm39) |
V57M |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,688,369 (GRCm39) |
K23E |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,249,331 (GRCm39) |
I132K |
probably damaging |
Het |
| Anxa4 |
T |
C |
6: 86,737,683 (GRCm39) |
T13A |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,235,022 (GRCm39) |
Y191N |
possibly damaging |
Het |
| Carm1 |
G |
A |
9: 21,498,204 (GRCm39) |
V403M |
probably damaging |
Het |
| Cbx7 |
A |
G |
15: 79,807,671 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
C |
14: 52,451,757 (GRCm39) |
N16K |
possibly damaging |
Het |
| Crtc3 |
A |
T |
7: 80,242,315 (GRCm39) |
D499E |
probably damaging |
Het |
| Cul3 |
A |
G |
1: 80,249,432 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,060,631 (GRCm39) |
D1421G |
probably damaging |
Het |
| Fgb |
T |
A |
3: 82,952,367 (GRCm39) |
E167D |
probably benign |
Het |
| Gimap6 |
T |
A |
6: 48,679,409 (GRCm39) |
Q209L |
probably damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,990 (GRCm39) |
H123Y |
possibly damaging |
Het |
| Gm5884 |
A |
T |
6: 128,622,749 (GRCm39) |
|
noncoding transcript |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Obox3 |
T |
C |
7: 15,360,848 (GRCm39) |
E97G |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,466,264 (GRCm39) |
H1488R |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,700,802 (GRCm39) |
Y221* |
probably null |
Het |
| Or6c75 |
A |
G |
10: 129,337,723 (GRCm39) |
*323W |
probably null |
Het |
| Pak5 |
T |
A |
2: 135,958,855 (GRCm39) |
K78* |
probably null |
Het |
| Paqr9 |
A |
G |
9: 95,442,877 (GRCm39) |
N289S |
probably damaging |
Het |
| Pde3b |
G |
A |
7: 114,122,577 (GRCm39) |
R715H |
probably damaging |
Het |
| Pglyrp2 |
T |
C |
17: 32,634,835 (GRCm39) |
H509R |
probably benign |
Het |
| Pik3ap1 |
A |
C |
19: 41,290,881 (GRCm39) |
N550K |
probably benign |
Het |
| Pon3 |
A |
G |
6: 5,221,671 (GRCm39) |
Y320H |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,608,227 (GRCm39) |
T690S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,000,686 (GRCm39) |
D925E |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,473,018 (GRCm39) |
D708G |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rbmy1b |
A |
G |
Y: 3,774,885 (GRCm39) |
I27M |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sis |
T |
C |
3: 72,820,543 (GRCm39) |
N1407S |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,490,555 (GRCm39) |
L261Q |
probably damaging |
Het |
| Sox30 |
T |
G |
11: 45,875,589 (GRCm39) |
L447R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssu72 |
A |
G |
4: 155,789,882 (GRCm39) |
N15S |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,137,574 (GRCm39) |
S455F |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,928,462 (GRCm39) |
L97Q |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,856,869 (GRCm39) |
N40I |
probably damaging |
Het |
| Sympk |
G |
A |
7: 18,782,794 (GRCm39) |
V877I |
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,876,204 (GRCm39) |
H123L |
probably damaging |
Het |
| Teddm1b |
A |
G |
1: 153,750,362 (GRCm39) |
Y57C |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,070,935 (GRCm39) |
C2121* |
probably null |
Het |
| Tnfsf11 |
T |
A |
14: 78,537,385 (GRCm39) |
R93* |
probably null |
Het |
| Tspan12 |
A |
C |
6: 21,835,378 (GRCm39) |
|
probably benign |
Het |
| Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
| Vps4a |
T |
C |
8: 107,769,693 (GRCm39) |
I334T |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,583,462 (GRCm39) |
S1110P |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,491,136 (GRCm39) |
S716P |
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 |
|
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 |
|
|
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 |
Incidental Mutation