Incidental Mutation 'R4554:Rfx8'
ID |
341799 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx8
|
Ensembl Gene |
ENSMUSG00000057173 |
Gene Name |
regulatory factor X 8 |
Synonyms |
4933400N17Rik |
MMRRC Submission |
041596-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4554 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
39704459-39760149 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 39720100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 325
(R325H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151913]
|
AlphaFold |
D3YU81 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126760
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151913
AA Change: R325H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000121212 Gene: ENSMUSG00000057173 AA Change: R325H
Domain | Start | End | E-Value | Type |
Pfam:RFX_DNA_binding
|
17 |
94 |
6.5e-31 |
PFAM |
Blast:DEXDc
|
301 |
358 |
4e-8 |
BLAST |
low complexity region
|
445 |
467 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
C |
T |
3: 121,949,992 (GRCm39) |
A1772V |
possibly damaging |
Het |
Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,992,294 (GRCm39) |
G4526D |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,601,599 (GRCm39) |
R2150H |
probably benign |
Het |
Amh |
A |
T |
10: 80,642,885 (GRCm39) |
E356D |
probably benign |
Het |
Cap2 |
T |
A |
13: 46,789,250 (GRCm39) |
F152I |
probably damaging |
Het |
Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
Ep300 |
T |
A |
15: 81,485,631 (GRCm39) |
M206K |
unknown |
Het |
Lsamp |
G |
C |
16: 41,964,438 (GRCm39) |
D271H |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
Mfsd11 |
T |
G |
11: 116,752,406 (GRCm39) |
V133G |
probably damaging |
Het |
Ngrn |
C |
T |
7: 79,914,449 (GRCm39) |
T200I |
possibly damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,123 (GRCm39) |
N310Y |
possibly damaging |
Het |
Phf20l1 |
A |
G |
15: 66,469,216 (GRCm39) |
T117A |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,539,529 (GRCm39) |
K357E |
probably benign |
Het |
Rhbdd3 |
C |
T |
11: 5,055,946 (GRCm39) |
P366L |
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,560,762 (GRCm39) |
N359S |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,804,433 (GRCm39) |
T499A |
probably benign |
Het |
Tex2 |
G |
T |
11: 106,435,212 (GRCm39) |
P738H |
unknown |
Het |
Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
Top6bl |
T |
C |
19: 4,699,847 (GRCm39) |
Q452R |
possibly damaging |
Het |
Zswim9 |
T |
C |
7: 13,011,088 (GRCm39) |
N87D |
probably benign |
Het |
|
Other mutations in Rfx8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01063:Rfx8
|
APN |
1 |
39,722,110 (GRCm39) |
nonsense |
probably null |
|
IGL01659:Rfx8
|
APN |
1 |
39,709,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02239:Rfx8
|
APN |
1 |
39,720,046 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02302:Rfx8
|
APN |
1 |
39,704,682 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02332:Rfx8
|
APN |
1 |
39,757,640 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02598:Rfx8
|
APN |
1 |
39,735,128 (GRCm39) |
splice site |
probably benign |
|
IGL02870:Rfx8
|
APN |
1 |
39,722,871 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03403:Rfx8
|
APN |
1 |
39,729,333 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4515001:Rfx8
|
UTSW |
1 |
39,729,265 (GRCm39) |
missense |
probably benign |
0.04 |
R0060:Rfx8
|
UTSW |
1 |
39,757,565 (GRCm39) |
splice site |
probably benign |
|
R0095:Rfx8
|
UTSW |
1 |
39,724,696 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0265:Rfx8
|
UTSW |
1 |
39,727,737 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1892:Rfx8
|
UTSW |
1 |
39,709,746 (GRCm39) |
splice site |
probably null |
|
R2054:Rfx8
|
UTSW |
1 |
39,724,719 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2960:Rfx8
|
UTSW |
1 |
39,722,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R5410:Rfx8
|
UTSW |
1 |
39,749,316 (GRCm39) |
critical splice donor site |
probably null |
|
R5496:Rfx8
|
UTSW |
1 |
39,709,507 (GRCm39) |
missense |
probably benign |
0.01 |
R5502:Rfx8
|
UTSW |
1 |
39,722,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R5916:Rfx8
|
UTSW |
1 |
39,727,779 (GRCm39) |
missense |
probably benign |
0.20 |
R6238:Rfx8
|
UTSW |
1 |
39,709,554 (GRCm39) |
missense |
probably damaging |
0.96 |
R6360:Rfx8
|
UTSW |
1 |
39,720,125 (GRCm39) |
missense |
probably benign |
|
R7593:Rfx8
|
UTSW |
1 |
39,722,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R7738:Rfx8
|
UTSW |
1 |
39,722,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R8378:Rfx8
|
UTSW |
1 |
39,709,581 (GRCm39) |
missense |
probably damaging |
0.98 |
R8753:Rfx8
|
UTSW |
1 |
39,757,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R9439:Rfx8
|
UTSW |
1 |
39,724,669 (GRCm39) |
missense |
probably benign |
0.01 |
R9444:Rfx8
|
UTSW |
1 |
39,709,476 (GRCm39) |
missense |
probably damaging |
0.96 |
R9498:Rfx8
|
UTSW |
1 |
39,724,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R9649:Rfx8
|
UTSW |
1 |
39,722,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9656:Rfx8
|
UTSW |
1 |
39,709,679 (GRCm39) |
missense |
probably benign |
0.00 |
T0722:Rfx8
|
UTSW |
1 |
39,722,772 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Rfx8
|
UTSW |
1 |
39,722,126 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTACAGGAAGACAAGTGTGAGC -3'
(R):5'- TTGAGATCGGATGTCAGTGCC -3'
Sequencing Primer
(F):5'- TGTGAGCACCTTCAACTAGG -3'
(R):5'- ATCGGATGTCAGTGCCCACAG -3'
|
Posted On |
2015-09-24 |