Incidental Mutation 'R2282:Rfx2'
| ID |
243198 |
| 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 |
040281-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.747)
|
| Stock # |
R2282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57082897-57138013 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57110722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 88
(Y88C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002444]
[ENSMUST00000086801]
|
| AlphaFold |
P48379 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002444
AA Change: Y88C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: Y88C
| 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 damaging
Transcript: ENSMUST00000086801
AA Change: Y88C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: Y88C
| 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 |
|
| Meta Mutation Damage Score |
0.4904 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,440,697 (GRCm39) |
L232P |
probably benign |
Het |
| Ap5b1 |
A |
T |
19: 5,619,665 (GRCm39) |
T362S |
possibly damaging |
Het |
| Ash2l |
A |
G |
8: 26,325,070 (GRCm39) |
M163T |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,056,073 (GRCm39) |
Y1029C |
probably damaging |
Het |
| Baz1a |
G |
T |
12: 54,963,597 (GRCm39) |
S829* |
probably null |
Het |
| Cd1d2 |
A |
G |
3: 86,894,558 (GRCm39) |
K109E |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,686,359 (GRCm39) |
F1309L |
unknown |
Het |
| Dnah5 |
A |
T |
15: 28,327,448 (GRCm39) |
E2055V |
probably damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,087 (GRCm39) |
I141F |
unknown |
Het |
| Epha5 |
A |
T |
5: 84,298,269 (GRCm39) |
I542N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,791 (GRCm39) |
V1432D |
possibly damaging |
Het |
| Klf12 |
C |
T |
14: 100,137,581 (GRCm39) |
E322K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Or1j11 |
G |
A |
2: 36,312,012 (GRCm39) |
V201I |
probably benign |
Het |
| Or2y1c |
T |
G |
11: 49,361,470 (GRCm39) |
M164R |
probably damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,776 (GRCm39) |
V185A |
probably benign |
Het |
| Or8c16 |
A |
G |
9: 38,130,124 (GRCm39) |
M2V |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,571,452 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
C |
T |
15: 12,373,934 (GRCm39) |
G2067D |
possibly damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,252,705 (GRCm39) |
M164V |
probably benign |
Het |
| Snx5 |
T |
A |
2: 144,095,595 (GRCm39) |
E355D |
probably benign |
Het |
| Tmbim6 |
T |
C |
15: 99,302,407 (GRCm39) |
F93S |
probably damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,100,754 (GRCm39) |
Q77* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,629,882 (GRCm39) |
V14216A |
possibly damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,870,859 (GRCm39) |
C808Y |
possibly damaging |
Het |
| Wnt10b |
A |
G |
15: 98,672,102 (GRCm39) |
F205S |
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 |
|
|
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 |
|
|
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'- ATGGATGAGGTAGGCTCCTG -3'
(R):5'- CAGACCTTTGAGTTTCCTGGAC -3'
Sequencing Primer
(F):5'- TGCGCCAGACACAATGG -3'
(R):5'- GAGTTTCCTGGACTGTTGACAAAAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation