Incidental Mutation 'R0622:Rfx2'
ID |
58759 |
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 |
038811-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.747)
|
Stock # |
R0622 (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 57084071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 657
(D657G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002444]
[ENSMUST00000086801]
[ENSMUST00000168666]
|
AlphaFold |
P48379 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002444
AA Change: D682G
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000002444 Gene: ENSMUSG00000024206 AA Change: D682G
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: D657G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084010 Gene: ENSMUSG00000024206 AA Change: D657G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168666
|
SMART Domains |
Protein: ENSMUSP00000127457 Gene: ENSMUSG00000090273
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
35 |
N/A |
INTRINSIC |
Pfam:PRR22
|
58 |
422 |
2.3e-169 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187612
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
T |
A |
13: 30,565,664 (GRCm39) |
M243K |
probably benign |
Het |
Ap1b1 |
A |
G |
11: 4,987,707 (GRCm39) |
M744V |
probably damaging |
Het |
Ccdc152 |
T |
C |
15: 3,327,660 (GRCm39) |
N39S |
probably damaging |
Het |
Cd163 |
G |
A |
6: 124,294,311 (GRCm39) |
V490M |
probably damaging |
Het |
Col6a5 |
G |
T |
9: 105,803,051 (GRCm39) |
H1305N |
unknown |
Het |
Cpb1 |
C |
A |
3: 20,303,982 (GRCm39) |
D361Y |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,412,656 (GRCm39) |
Y1248F |
probably damaging |
Het |
Dhdds |
G |
C |
4: 133,721,547 (GRCm39) |
F83L |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,582,845 (GRCm39) |
V161E |
possibly damaging |
Het |
Exosc4 |
A |
G |
15: 76,211,736 (GRCm39) |
D15G |
probably damaging |
Het |
F3 |
A |
T |
3: 121,518,668 (GRCm39) |
D44V |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,173,954 (GRCm39) |
F2253Y |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,220,944 (GRCm39) |
D650G |
possibly damaging |
Het |
Gramd4 |
T |
A |
15: 85,975,590 (GRCm39) |
F36I |
probably damaging |
Het |
Grm7 |
G |
A |
6: 111,335,457 (GRCm39) |
A623T |
probably damaging |
Het |
Gys1 |
A |
T |
7: 45,089,419 (GRCm39) |
T193S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,486,688 (GRCm39) |
T3228A |
possibly damaging |
Het |
Itpk1 |
G |
T |
12: 102,540,239 (GRCm39) |
D281E |
probably damaging |
Het |
Kcnh7 |
A |
C |
2: 62,667,633 (GRCm39) |
|
probably null |
Het |
Klhl29 |
A |
G |
12: 5,131,224 (GRCm39) |
L852P |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,033,491 (GRCm39) |
Y509C |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,618,563 (GRCm39) |
|
probably null |
Het |
Mcpt4 |
C |
A |
14: 56,298,119 (GRCm39) |
R144L |
probably benign |
Het |
Mia2 |
C |
T |
12: 59,178,364 (GRCm39) |
R12W |
probably damaging |
Het |
Mrps5 |
A |
G |
2: 127,436,451 (GRCm39) |
K116R |
probably benign |
Het |
Myrf |
G |
A |
19: 10,200,816 (GRCm39) |
P286S |
probably damaging |
Het |
Nanp |
A |
G |
2: 150,881,164 (GRCm39) |
M28T |
probably benign |
Het |
Neb |
T |
C |
2: 52,102,963 (GRCm39) |
I4472V |
probably benign |
Het |
Nfix |
A |
C |
8: 85,453,111 (GRCm39) |
N314K |
probably damaging |
Het |
Nlrc3 |
C |
T |
16: 3,771,832 (GRCm39) |
R849Q |
probably benign |
Het |
Nup210l |
G |
A |
3: 90,075,047 (GRCm39) |
V786M |
probably damaging |
Het |
Or2t44 |
T |
C |
11: 58,677,167 (GRCm39) |
S36P |
probably damaging |
Het |
Or52ad1 |
A |
G |
7: 102,996,064 (GRCm39) |
S24P |
probably damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,598 (GRCm39) |
I163T |
possibly damaging |
Het |
Or8c20 |
A |
G |
9: 38,260,667 (GRCm39) |
N96S |
possibly damaging |
Het |
Pdia4 |
A |
T |
6: 47,783,452 (GRCm39) |
F197Y |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,627,149 (GRCm39) |
D432G |
probably damaging |
Het |
Pik3ca |
A |
G |
3: 32,490,701 (GRCm39) |
E116G |
probably damaging |
Het |
Polq |
T |
C |
16: 36,881,355 (GRCm39) |
V1173A |
probably benign |
Het |
Pou2f3 |
C |
T |
9: 43,036,414 (GRCm39) |
R423H |
probably damaging |
Het |
Pramel29 |
T |
C |
4: 143,939,583 (GRCm39) |
|
probably benign |
Het |
Prkag2 |
T |
C |
5: 25,074,247 (GRCm39) |
N246S |
probably damaging |
Het |
Proser1 |
A |
G |
3: 53,385,281 (GRCm39) |
S388G |
probably benign |
Het |
Ralgps1 |
G |
A |
2: 33,064,459 (GRCm39) |
R238* |
probably null |
Het |
Ryr3 |
A |
G |
2: 112,492,900 (GRCm39) |
F3724S |
probably damaging |
Het |
Sh2d5 |
T |
C |
4: 137,986,539 (GRCm39) |
S421P |
probably damaging |
Het |
Slc34a1 |
C |
A |
13: 23,996,594 (GRCm39) |
T33K |
probably damaging |
Het |
St8sia5 |
A |
G |
18: 77,333,809 (GRCm39) |
T156A |
probably damaging |
Het |
Stk32c |
T |
C |
7: 138,768,026 (GRCm39) |
D85G |
probably benign |
Het |
Tnks |
A |
G |
8: 35,407,976 (GRCm39) |
S251P |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,937,703 (GRCm39) |
L3864Q |
probably damaging |
Het |
Trim9 |
A |
G |
12: 70,393,378 (GRCm39) |
Y189H |
probably damaging |
Het |
Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
Wasf3 |
A |
G |
5: 146,403,602 (GRCm39) |
|
probably null |
Het |
Wdr90 |
C |
T |
17: 26,074,632 (GRCm39) |
C603Y |
probably damaging |
Het |
Zdhhc25 |
T |
C |
15: 88,485,310 (GRCm39) |
L215P |
probably damaging |
Het |
Zeb1 |
C |
T |
18: 5,759,123 (GRCm39) |
Q140* |
probably null |
Het |
Zfp677 |
C |
T |
17: 21,617,962 (GRCm39) |
L340F |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCATCTTAGTTGCCCACAGTCTC -3'
(R):5'- TGTCACTGACCCTGCTGGACAAAG -3'
Sequencing Primer
(F):5'- CCTTGGGTCACAGTAAACATGG -3'
(R):5'- CATCCTGTGGTAGCTTAACAGAG -3'
|
Posted On |
2013-07-11 |