Incidental Mutation 'IGL03395:Rfx5'
| ID |
421216 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rfx5
|
| Ensembl Gene |
ENSMUSG00000005774 |
| Gene Name |
regulatory factor X, 5 (influences HLA class II expression) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
IGL03395
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94861355-94868685 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 94865113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 259
(R259*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029772]
[ENSMUST00000107253]
[ENSMUST00000107254]
[ENSMUST00000107255]
[ENSMUST00000107260]
[ENSMUST00000132393]
[ENSMUST00000137088]
[ENSMUST00000144132]
[ENSMUST00000147237]
[ENSMUST00000142311]
[ENSMUST00000152869]
[ENSMUST00000140331]
[ENSMUST00000145031]
[ENSMUST00000145472]
|
| AlphaFold |
Q9JL61 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029772
AA Change: R259*
|
| SMART Domains |
Protein: ENSMUSP00000029772
Gene: ENSMUSG00000005774
AA Change: R259*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
169 |
7.2e-33 |
PFAM |
|
RFX5_DNA_bdg
|
438 |
656 |
4.29e-130 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107253
AA Change: R259*
|
| SMART Domains |
Protein: ENSMUSP00000102874
Gene: ENSMUSG00000005774
AA Change: R259*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
169 |
1.8e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107254
AA Change: R259*
|
| SMART Domains |
Protein: ENSMUSP00000102875
Gene: ENSMUSG00000005774
AA Change: R259*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
169 |
1.8e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107255
AA Change: R259*
|
| SMART Domains |
Protein: ENSMUSP00000102876
Gene: ENSMUSG00000005774
AA Change: R259*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
169 |
7.2e-33 |
PFAM |
|
RFX5_DNA_bdg
|
438 |
656 |
4.29e-130 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107260
AA Change: R259*
|
| SMART Domains |
Protein: ENSMUSP00000102881
Gene: ENSMUSG00000005774
AA Change: R259*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
88 |
167 |
5.3e-31 |
PFAM |
|
RFX5_DNA_bdg
|
438 |
656 |
4.29e-130 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132393
|
| SMART Domains |
Protein: ENSMUSP00000117999
Gene: ENSMUSG00000005774
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KW3|B
|
23 |
89 |
9e-40 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137088
AA Change: R259*
|
| SMART Domains |
Protein: ENSMUSP00000117963
Gene: ENSMUSG00000005774
AA Change: R259*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
169 |
7.2e-33 |
PFAM |
|
RFX5_DNA_bdg
|
438 |
656 |
4.29e-130 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147237
|
| SMART Domains |
Protein: ENSMUSP00000118586
Gene: ENSMUSG00000005774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
169 |
8.7e-34 |
PFAM |
|
Pfam:Pox_D5
|
88 |
159 |
1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142311
|
| SMART Domains |
Protein: ENSMUSP00000119704
Gene: ENSMUSG00000005774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
131 |
4.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152869
|
| SMART Domains |
Protein: ENSMUSP00000121157
Gene: ENSMUSG00000005774
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KW3|B
|
23 |
89 |
7e-40 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140331
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145031
|
| SMART Domains |
Protein: ENSMUSP00000118099
Gene: ENSMUSG00000005774
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KW3|B
|
23 |
89 |
9e-40 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145472
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice have absent or decreased expression of MHC-II complexes on antigen presenting cells, which leads to reduced numbers of CD4+ thymocytes and T cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,746 (GRCm39) |
D308G |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,761,701 (GRCm39) |
I155F |
probably damaging |
Het |
| Ado |
T |
C |
10: 67,384,368 (GRCm39) |
Y79C |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,107,884 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,734 (GRCm39) |
D165E |
probably damaging |
Het |
| Ccdc124 |
A |
C |
8: 71,321,251 (GRCm39) |
M163R |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,304 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
A |
G |
17: 41,234,449 (GRCm39) |
L247P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,294,978 (GRCm39) |
V479A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,860,261 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
| Emc9 |
C |
T |
14: 55,822,197 (GRCm39) |
A72T |
probably benign |
Het |
| Fbxo5 |
G |
A |
10: 5,751,935 (GRCm39) |
S226F |
probably benign |
Het |
| Gm42688 |
A |
C |
6: 83,085,352 (GRCm39) |
E737D |
possibly damaging |
Het |
| Got1l1 |
G |
T |
8: 27,690,885 (GRCm39) |
H54Q |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,886,053 (GRCm39) |
V150I |
possibly damaging |
Het |
| Klc4 |
C |
T |
17: 46,943,789 (GRCm39) |
V506M |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,754,495 (GRCm39) |
N90S |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,681,617 (GRCm39) |
|
probably null |
Het |
| Mbd6 |
G |
A |
10: 127,119,286 (GRCm39) |
R950C |
probably damaging |
Het |
| Nol11 |
A |
G |
11: 107,066,548 (GRCm39) |
V414A |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,225,847 (GRCm39) |
M123K |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,272,325 (GRCm39) |
E177G |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,614,262 (GRCm39) |
D396E |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,503,876 (GRCm39) |
|
probably null |
Het |
| Pds5a |
T |
C |
5: 65,809,792 (GRCm39) |
D390G |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,224,999 (GRCm39) |
T155A |
probably benign |
Het |
| Rab31 |
T |
A |
17: 66,003,362 (GRCm39) |
H95L |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,384,622 (GRCm39) |
D285G |
probably damaging |
Het |
| Spats2l |
A |
T |
1: 57,977,175 (GRCm39) |
I318F |
probably damaging |
Het |
| Spef1l |
G |
T |
7: 139,556,589 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
A |
G |
9: 71,783,304 (GRCm39) |
S361P |
probably damaging |
Het |
|
| Other mutations in Rfx5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Rfx5
|
APN |
3 |
94,865,086 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01478:Rfx5
|
APN |
3 |
94,865,751 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02061:Rfx5
|
APN |
3 |
94,865,792 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02152:Rfx5
|
APN |
3 |
94,864,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
chip
|
UTSW |
3 |
94,863,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nonplussed
|
UTSW |
3 |
94,866,272 (GRCm39) |
missense |
unknown |
|
|
shrunken
|
UTSW |
3 |
94,862,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Rfx5
|
UTSW |
3 |
94,865,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Rfx5
|
UTSW |
3 |
94,865,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Rfx5
|
UTSW |
3 |
94,863,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Rfx5
|
UTSW |
3 |
94,863,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1342:Rfx5
|
UTSW |
3 |
94,865,723 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1460:Rfx5
|
UTSW |
3 |
94,863,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Rfx5
|
UTSW |
3 |
94,863,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Rfx5
|
UTSW |
3 |
94,863,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Rfx5
|
UTSW |
3 |
94,864,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Rfx5
|
UTSW |
3 |
94,864,027 (GRCm39) |
splice site |
probably null |
|
|
R4808:Rfx5
|
UTSW |
3 |
94,865,591 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4993:Rfx5
|
UTSW |
3 |
94,863,126 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4996:Rfx5
|
UTSW |
3 |
94,863,126 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5104:Rfx5
|
UTSW |
3 |
94,862,451 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5912:Rfx5
|
UTSW |
3 |
94,866,029 (GRCm39) |
unclassified |
probably benign |
|
|
R7097:Rfx5
|
UTSW |
3 |
94,863,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Rfx5
|
UTSW |
3 |
94,865,659 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7194:Rfx5
|
UTSW |
3 |
94,862,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Rfx5
|
UTSW |
3 |
94,866,272 (GRCm39) |
missense |
unknown |
|
|
R7203:Rfx5
|
UTSW |
3 |
94,866,187 (GRCm39) |
missense |
unknown |
|
|
R7374:Rfx5
|
UTSW |
3 |
94,866,053 (GRCm39) |
missense |
unknown |
|
|
R7375:Rfx5
|
UTSW |
3 |
94,866,053 (GRCm39) |
missense |
unknown |
|
|
R8919:Rfx5
|
UTSW |
3 |
94,864,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Rfx5
|
UTSW |
3 |
94,866,639 (GRCm39) |
missense |
unknown |
|
|
RF061:Rfx5
|
UTSW |
3 |
94,863,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rfx5
|
UTSW |
3 |
94,863,126 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Posted On |
2016-08-02 |
Incidental Mutation