Incidental Mutation 'R5766:Rfx2'
| ID |
446307 |
| 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 |
044424-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.747)
|
| Stock # |
R5766 (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 A
at 57110587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 133
(D133V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002444]
[ENSMUST00000086801]
|
| AlphaFold |
P48379 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002444
AA Change: D133V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: D133V
| 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: D133V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: D133V
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,182,439 (GRCm39) |
V343A |
probably damaging |
Het |
| AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
| Arid2 |
A |
G |
15: 96,270,086 (GRCm39) |
T1400A |
probably benign |
Het |
| Arrdc1 |
G |
A |
2: 24,816,417 (GRCm39) |
T184I |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,406,740 (GRCm39) |
F1876L |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,132,142 (GRCm39) |
V158I |
probably benign |
Het |
| Caly |
T |
C |
7: 139,650,310 (GRCm39) |
K211E |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,954,174 (GRCm39) |
L1677P |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,381,032 (GRCm39) |
V1388A |
possibly damaging |
Het |
| Dgkd |
C |
T |
1: 87,808,171 (GRCm39) |
R80* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,577,445 (GRCm39) |
I2072N |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,909,235 (GRCm39) |
I1020M |
probably benign |
Het |
| Drc3 |
T |
C |
11: 60,284,647 (GRCm39) |
V484A |
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,622,912 (GRCm39) |
D27G |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 38,943,617 (GRCm39) |
G837R |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,754 (GRCm39) |
W224* |
probably null |
Het |
| Fgb |
A |
T |
3: 82,953,483 (GRCm39) |
C96S |
probably damaging |
Het |
| Flt4 |
G |
C |
11: 49,517,513 (GRCm39) |
W278C |
possibly damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,991,466 (GRCm39) |
V327A |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,879,548 (GRCm39) |
Y2455F |
possibly damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm13872 |
T |
A |
2: 102,568,254 (GRCm39) |
I88N |
probably damaging |
Het |
| Hoxa6 |
A |
G |
6: 52,185,394 (GRCm39) |
S71P |
probably benign |
Het |
| Hunk |
T |
A |
16: 90,250,627 (GRCm39) |
C148S |
probably damaging |
Het |
| Ighv1-18 |
A |
C |
12: 114,646,527 (GRCm39) |
S26A |
probably damaging |
Het |
| Impg2 |
T |
G |
16: 56,080,183 (GRCm39) |
D553E |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,757,900 (GRCm39) |
I266T |
probably benign |
Het |
| Kpna3 |
G |
T |
14: 61,640,463 (GRCm39) |
T33K |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,349,930 (GRCm39) |
D622G |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,520,067 (GRCm39) |
T39A |
probably damaging |
Het |
| Mnt |
C |
T |
11: 74,733,904 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,573,477 (GRCm39) |
S726P |
probably damaging |
Het |
| Or13a25 |
T |
A |
7: 140,247,266 (GRCm39) |
V22E |
probably benign |
Het |
| Pah |
A |
C |
10: 87,403,209 (GRCm39) |
K195Q |
probably damaging |
Het |
| Pdc |
T |
A |
1: 150,209,251 (GRCm39) |
*245K |
probably null |
Het |
| Pdzd8 |
A |
T |
19: 59,288,972 (GRCm39) |
H809Q |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,769,140 (GRCm39) |
I467L |
probably benign |
Het |
| Ppp2ca |
A |
G |
11: 52,004,014 (GRCm39) |
D57G |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,867,551 (GRCm39) |
M1K |
probably null |
Het |
| Scfd2 |
A |
T |
5: 74,623,312 (GRCm39) |
L407Q |
probably damaging |
Het |
| Scp2d1 |
T |
A |
2: 144,665,957 (GRCm39) |
S99T |
possibly damaging |
Het |
| Sec63 |
A |
T |
10: 42,677,677 (GRCm39) |
N261I |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,390 (GRCm39) |
Y216C |
probably damaging |
Het |
| Son |
T |
A |
16: 91,461,875 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
T |
C |
7: 140,357,894 (GRCm39) |
E285G |
probably damaging |
Het |
| Taar7a |
G |
T |
10: 23,869,260 (GRCm39) |
S40R |
probably benign |
Het |
| Ube3a |
A |
T |
7: 58,925,807 (GRCm39) |
D216V |
possibly damaging |
Het |
| Vgll2 |
A |
G |
10: 51,903,659 (GRCm39) |
D174G |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,139 (GRCm39) |
T149S |
possibly damaging |
Het |
| Zbtb39 |
G |
T |
10: 127,578,557 (GRCm39) |
C377F |
probably damaging |
Het |
| Zfp820 |
T |
A |
17: 22,038,983 (GRCm39) |
N115I |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,805,078 (GRCm39) |
S23P |
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 |
|
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 |
|
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'- GCCCAATCCTAAAGGCCTTTG -3'
(R):5'- GGTGATGCTTTCTCTCCCACAG -3'
Sequencing Primer
(F):5'- TCACCTACCTGAGTGCTGG -3'
(R):5'- TCTCTCCCACAGCCGAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation