Incidental Mutation 'R7375:Rfx5'
ID |
572316 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx5
|
Ensembl Gene |
ENSMUSG00000005774 |
Gene Name |
regulatory factor X, 5 (influences HLA class II expression) |
Synonyms |
|
MMRRC Submission |
045458-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.242)
|
Stock # |
R7375 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
94861355-94868685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 94866053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 451
(P451S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029772]
[ENSMUST00000107253]
[ENSMUST00000107254]
[ENSMUST00000107255]
[ENSMUST00000107260]
[ENSMUST00000132393]
[ENSMUST00000137088]
[ENSMUST00000140331]
[ENSMUST00000142311]
[ENSMUST00000144132]
[ENSMUST00000145031]
[ENSMUST00000145472]
[ENSMUST00000147237]
[ENSMUST00000152869]
|
AlphaFold |
Q9JL61 |
Predicted Effect |
unknown
Transcript: ENSMUST00000029772
AA Change: P451S
|
SMART Domains |
Protein: ENSMUSP00000029772 Gene: ENSMUSG00000005774 AA Change: P451S
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 |
unknown
Transcript: ENSMUST00000107255
AA Change: P451S
|
SMART Domains |
Protein: ENSMUSP00000102876 Gene: ENSMUSG00000005774 AA Change: P451S
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 |
unknown
Transcript: ENSMUST00000107260
AA Change: P451S
|
SMART Domains |
Protein: ENSMUSP00000102881 Gene: ENSMUSG00000005774 AA Change: P451S
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 |
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 |
unknown
Transcript: ENSMUST00000137088
AA Change: P451S
|
SMART Domains |
Protein: ENSMUSP00000117963 Gene: ENSMUSG00000005774 AA Change: P451S
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: ENSMUST00000140331
|
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: ENSMUST00000144132
|
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
|
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: ENSMUST00000152869
|
SMART Domains |
Protein: ENSMUSP00000121157 Gene: ENSMUSG00000005774
Domain | Start | End | E-Value | Type |
PDB:2KW3|B
|
23 |
89 |
7e-40 |
PDB |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (59/59) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 8,968,671 (GRCm39) |
I337V |
probably benign |
Het |
Abl2 |
A |
G |
1: 156,450,184 (GRCm39) |
D117G |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,563,365 (GRCm39) |
L112* |
probably null |
Het |
Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
Ccdc168 |
A |
T |
1: 44,099,694 (GRCm39) |
I468N |
possibly damaging |
Het |
Cfap91 |
T |
A |
16: 38,155,980 (GRCm39) |
H81L |
probably damaging |
Het |
Cmya5 |
T |
G |
13: 93,228,169 (GRCm39) |
K2306N |
probably damaging |
Het |
Col16a1 |
A |
C |
4: 129,959,294 (GRCm39) |
K680T |
unknown |
Het |
Col28a1 |
T |
A |
6: 7,998,499 (GRCm39) |
T1137S |
possibly damaging |
Het |
Crnn |
A |
T |
3: 93,056,452 (GRCm39) |
T413S |
possibly damaging |
Het |
Csf1 |
A |
G |
3: 107,655,495 (GRCm39) |
L512P |
possibly damaging |
Het |
Dlx3 |
C |
A |
11: 95,011,461 (GRCm39) |
A105D |
possibly damaging |
Het |
Dnah3 |
T |
G |
7: 119,550,900 (GRCm39) |
T161P |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,342,794 (GRCm39) |
D3435G |
probably damaging |
Het |
Dpp10 |
A |
G |
1: 123,295,524 (GRCm39) |
I541T |
probably benign |
Het |
Efcc1 |
T |
C |
6: 87,728,838 (GRCm39) |
V431A |
possibly damaging |
Het |
Enpp5 |
T |
C |
17: 44,391,868 (GRCm39) |
I99T |
probably benign |
Het |
Gm11232 |
C |
T |
4: 71,675,583 (GRCm39) |
W59* |
probably null |
Het |
Gxylt2 |
A |
T |
6: 100,727,383 (GRCm39) |
T166S |
probably benign |
Het |
Herc6 |
A |
T |
6: 57,628,791 (GRCm39) |
|
probably null |
Het |
Itga2 |
T |
C |
13: 115,005,753 (GRCm39) |
I476V |
probably benign |
Het |
Kcnq5 |
T |
C |
1: 21,539,710 (GRCm39) |
T403A |
possibly damaging |
Het |
Klhl42 |
A |
G |
6: 146,993,538 (GRCm39) |
K170R |
probably benign |
Het |
Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
Krt32 |
G |
T |
11: 99,972,050 (GRCm39) |
R433S |
probably benign |
Het |
Lrp1 |
G |
T |
10: 127,375,217 (GRCm39) |
T4461N |
probably damaging |
Het |
Mapk10 |
A |
T |
5: 103,124,256 (GRCm39) |
M256K |
probably null |
Het |
Mogat2 |
T |
C |
7: 98,872,905 (GRCm39) |
K93R |
probably damaging |
Het |
Myh1 |
G |
T |
11: 67,101,254 (GRCm39) |
V677L |
probably damaging |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Oog4 |
G |
A |
4: 143,165,544 (GRCm39) |
T201M |
possibly damaging |
Het |
Or4a70 |
C |
T |
2: 89,324,036 (GRCm39) |
G207R |
possibly damaging |
Het |
Pik3c2a |
T |
C |
7: 115,975,621 (GRCm39) |
T649A |
probably damaging |
Het |
Plec |
T |
A |
15: 76,061,555 (GRCm39) |
H2794L |
possibly damaging |
Het |
Pros1 |
T |
A |
16: 62,744,913 (GRCm39) |
N509K |
probably damaging |
Het |
Psme3ip1 |
G |
A |
8: 95,309,636 (GRCm39) |
L119F |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,722,700 (GRCm39) |
|
probably null |
Het |
Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
Rad50 |
A |
G |
11: 53,543,055 (GRCm39) |
|
probably null |
Het |
Scpppq1 |
G |
T |
5: 104,219,123 (GRCm39) |
|
probably null |
Het |
Sdk1 |
G |
T |
5: 141,984,598 (GRCm39) |
V728L |
probably benign |
Het |
Sfxn4 |
T |
C |
19: 60,847,112 (GRCm39) |
D57G |
probably benign |
Het |
Slc10a4 |
A |
G |
5: 73,169,650 (GRCm39) |
D425G |
probably benign |
Het |
Slc17a5 |
C |
T |
9: 78,495,174 (GRCm39) |
A26T |
probably benign |
Het |
Slc22a26 |
A |
T |
19: 7,760,509 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
A |
G |
19: 8,382,055 (GRCm39) |
L72P |
probably damaging |
Het |
Slco6c1 |
T |
C |
1: 97,009,146 (GRCm39) |
T447A |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,349,172 (GRCm39) |
N81S |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,495,483 (GRCm39) |
|
probably null |
Het |
Tecpr1 |
T |
C |
5: 144,145,417 (GRCm39) |
E610G |
possibly damaging |
Het |
Tmem81 |
G |
T |
1: 132,435,301 (GRCm39) |
V36L |
possibly damaging |
Het |
Trabd2b |
G |
T |
4: 114,467,194 (GRCm39) |
K474N |
probably benign |
Het |
Tspan33 |
T |
C |
6: 29,713,519 (GRCm39) |
F149L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,606,683 (GRCm39) |
Y18076H |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,516,764 (GRCm39) |
R2277C |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,831,652 (GRCm39) |
D549E |
probably damaging |
Het |
Vmn2r107 |
T |
A |
17: 20,576,138 (GRCm39) |
I156K |
probably benign |
Het |
Wwc2 |
T |
G |
8: 48,316,955 (GRCm39) |
S713R |
unknown |
Het |
Xndc1 |
C |
A |
7: 101,730,687 (GRCm39) |
|
probably null |
Het |
Zfp810 |
A |
G |
9: 22,201,833 (GRCm39) |
|
probably null |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTACTTTGTCAGGGGCTG -3'
(R):5'- AGGAGTAGCGTTTCTTTCCC -3'
Sequencing Primer
(F):5'- GCCTTGGGCCTAGGTTTG -3'
(R):5'- CCTGGCTTCTTTCGAGGGC -3'
|
Posted On |
2019-09-13 |