Incidental Mutation 'IGL02061:Rfx5'
| ID |
185414 |
| 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 # |
IGL02061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94861355-94868685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94865792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 364
(T364A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029772]
[ENSMUST00000107253]
[ENSMUST00000107254]
[ENSMUST00000107255]
[ENSMUST00000107260]
[ENSMUST00000132393]
[ENSMUST00000137088]
[ENSMUST00000144132]
[ENSMUST00000145472]
[ENSMUST00000142311]
[ENSMUST00000152869]
[ENSMUST00000145031]
[ENSMUST00000147237]
[ENSMUST00000140331]
|
| AlphaFold |
Q9JL61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029772
AA Change: T364A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029772
Gene: ENSMUSG00000005774
AA Change: T364A
| 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 benign
Transcript: ENSMUST00000107253
|
| SMART Domains |
Protein: ENSMUSP00000102874
Gene: ENSMUSG00000005774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
169 |
1.8e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107254
|
| SMART Domains |
Protein: ENSMUSP00000102875
Gene: ENSMUSG00000005774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RFX_DNA_binding
|
84 |
169 |
1.8e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107255
AA Change: T364A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102876
Gene: ENSMUSG00000005774
AA Change: T364A
| 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 benign
Transcript: ENSMUST00000107260
AA Change: T364A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102881
Gene: ENSMUSG00000005774
AA Change: T364A
| 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 benign
Transcript: ENSMUST00000137088
AA Change: T364A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000117963
Gene: ENSMUSG00000005774
AA Change: T364A
| 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: ENSMUST00000148803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145472
|
| 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: 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: 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: ENSMUST00000140331
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
T |
A |
13: 113,931,193 (GRCm39) |
D3E |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,454 (GRCm39) |
Y159C |
probably damaging |
Het |
| Card10 |
A |
G |
15: 78,662,415 (GRCm39) |
F861S |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,188,002 (GRCm39) |
V279A |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,751 (GRCm39) |
R136W |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,885,608 (GRCm39) |
E50G |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Eva1c |
C |
T |
16: 90,663,163 (GRCm39) |
Q67* |
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,967 (GRCm39) |
E169G |
probably damaging |
Het |
| Fsd2 |
T |
A |
7: 81,190,172 (GRCm39) |
K537* |
probably null |
Het |
| Gbf1 |
T |
G |
19: 46,267,697 (GRCm39) |
S1236A |
possibly damaging |
Het |
| Gpt |
C |
A |
15: 76,583,617 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,486,609 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
C |
X: 7,809,878 (GRCm39) |
|
probably null |
Het |
| Ivns1abp |
T |
A |
1: 151,227,324 (GRCm39) |
L44Q |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,494 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,021,404 (GRCm39) |
I58T |
probably damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,094,319 (GRCm39) |
P76S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,625,308 (GRCm39) |
I2261T |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,061,651 (GRCm39) |
V61M |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,614 (GRCm39) |
F162I |
possibly damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,046 (GRCm39) |
Q437R |
probably benign |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,639 (GRCm39) |
C90S |
possibly damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,624 (GRCm39) |
T66A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,192 (GRCm39) |
Y231H |
possibly damaging |
Het |
| Psmb10 |
T |
C |
8: 106,664,343 (GRCm39) |
T38A |
probably damaging |
Het |
| Scgb2b26 |
T |
C |
7: 33,642,610 (GRCm39) |
N107S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,920,328 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,277,660 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
A |
16: 90,022,126 (GRCm39) |
H111Q |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,900,176 (GRCm39) |
D592E |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,053,526 (GRCm39) |
A740V |
probably damaging |
Het |
| Tra2a |
A |
G |
6: 49,226,032 (GRCm39) |
V136A |
possibly damaging |
Het |
| Utp18 |
T |
C |
11: 93,772,967 (GRCm39) |
D158G |
probably benign |
Het |
| Zfp524 |
A |
G |
7: 5,020,871 (GRCm39) |
E133G |
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 |
|
IGL02152:Rfx5
|
APN |
3 |
94,864,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03395:Rfx5
|
APN |
3 |
94,865,113 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation