Incidental Mutation 'R8274:Rfx2'
| ID |
637924 |
| 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 |
067697-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.747)
|
| Stock # |
R8274 (G1)
|
| Quality Score |
129.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57082897-57138013 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57111348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 75
(A75T)
|
| 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: A75T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: A75T
| 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: A75T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: A75T
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (46/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
C |
11: 3,844,964 (GRCm39) |
T42A |
possibly damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,181 (GRCm39) |
V294A |
probably benign |
Het |
| Ahr |
A |
C |
12: 35,560,068 (GRCm39) |
V195G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,430,718 (GRCm39) |
I1022N |
probably benign |
Het |
| Arsk |
A |
T |
13: 76,220,303 (GRCm39) |
C264S |
probably damaging |
Het |
| Astn2 |
A |
G |
4: 65,570,098 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
C |
A |
6: 136,537,988 (GRCm39) |
T407K |
probably benign |
Het |
| Axl |
A |
G |
7: 25,463,438 (GRCm39) |
I613T |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,957,716 (GRCm39) |
M1021T |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,861 (GRCm39) |
V765A |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,839,432 (GRCm39) |
Y1323H |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,799,029 (GRCm39) |
G1794V |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,960,453 (GRCm39) |
M3321V |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,160,612 (GRCm39) |
S65P |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,551 (GRCm39) |
S157P |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,017,531 (GRCm39) |
H1500L |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,324,722 (GRCm39) |
A772V |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,288,786 (GRCm39) |
K246* |
probably null |
Het |
| Fbxl9 |
T |
A |
8: 106,042,166 (GRCm39) |
I221F |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,267,338 (GRCm39) |
N527S |
probably benign |
Het |
| Gpr157 |
C |
T |
4: 150,172,500 (GRCm39) |
T97M |
probably damaging |
Het |
| Gpt2 |
T |
C |
8: 86,242,853 (GRCm39) |
L295P |
probably benign |
Het |
| Grm8 |
T |
A |
6: 27,761,335 (GRCm39) |
K296N |
probably benign |
Het |
| Gss |
T |
A |
2: 155,429,424 (GRCm39) |
I23L |
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,159,230 (GRCm39) |
V442A |
possibly damaging |
Het |
| Hoxa3 |
C |
A |
6: 52,147,524 (GRCm39) |
R243L |
unknown |
Het |
| Junb |
T |
A |
8: 85,705,058 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,910,987 (GRCm39) |
I514T |
probably damaging |
Het |
| Kif11 |
C |
A |
19: 37,391,994 (GRCm39) |
T463N |
probably damaging |
Het |
| Lmf2 |
C |
T |
15: 89,236,866 (GRCm39) |
G459S |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,250 (GRCm39) |
T85A |
possibly damaging |
Het |
| Myo9b |
G |
A |
8: 71,812,480 (GRCm39) |
A2084T |
probably benign |
Het |
| Oog4 |
T |
A |
4: 143,166,459 (GRCm39) |
|
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,795 (GRCm39) |
H57Q |
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ptprk |
G |
T |
10: 28,456,408 (GRCm39) |
R1056L |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,632,548 (GRCm39) |
T441A |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,925,830 (GRCm39) |
V292A |
probably benign |
Het |
| Smok2a |
G |
A |
17: 13,445,781 (GRCm39) |
A453T |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,422,738 (GRCm39) |
V427A |
probably damaging |
Het |
| Tmem208 |
T |
G |
8: 106,055,257 (GRCm39) |
I106S |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,299,230 (GRCm39) |
|
probably benign |
Het |
| Trav9-2 |
G |
T |
14: 53,828,810 (GRCm39) |
R60L |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,853,089 (GRCm39) |
K624E |
probably benign |
Het |
| Zfp318 |
A |
T |
17: 46,723,915 (GRCm39) |
M1973L |
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 |
|
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 |
|
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'- GAGTTTTCTAGAGGCCAAGAACAC -3'
(R):5'- TCTTTATACAACATAGGCCCAGGG -3'
Sequencing Primer
(F):5'- ACAAAAGCCGTGGCCCTG -3'
(R):5'- CTCACTTCTCATTGCAGGT -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation