Incidental Mutation 'IGL02239:Rfx8'
ID |
286020 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rfx8
|
Ensembl Gene |
ENSMUSG00000057173 |
Gene Name |
regulatory factor X 8 |
Synonyms |
4933400N17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02239
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
39704459-39760149 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39720046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 343
(D343G)
|
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: D343G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000121212 Gene: ENSMUSG00000057173 AA Change: D343G
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,369,386 (GRCm39) |
E262G |
possibly damaging |
Het |
Adgra3 |
T |
A |
5: 50,118,054 (GRCm39) |
S1165C |
probably damaging |
Het |
Akap11 |
A |
G |
14: 78,751,289 (GRCm39) |
L366P |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
Bhmt2 |
C |
T |
13: 93,799,687 (GRCm39) |
G250R |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cntnap2 |
A |
G |
6: 46,998,588 (GRCm39) |
D880G |
probably damaging |
Het |
Erc1 |
A |
G |
6: 119,750,852 (GRCm39) |
V443A |
probably damaging |
Het |
Fbxw15 |
A |
G |
9: 109,388,905 (GRCm39) |
I168T |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,779,416 (GRCm39) |
A504T |
probably damaging |
Het |
Galm |
A |
G |
17: 80,452,467 (GRCm39) |
D135G |
probably damaging |
Het |
Gstp3 |
C |
T |
19: 4,107,899 (GRCm39) |
V145I |
possibly damaging |
Het |
Hspa5 |
T |
C |
2: 34,662,788 (GRCm39) |
F115L |
probably benign |
Het |
Lig4 |
A |
C |
8: 10,022,473 (GRCm39) |
S436A |
probably damaging |
Het |
Ncam1 |
A |
G |
9: 49,478,702 (GRCm39) |
V99A |
probably damaging |
Het |
Nell1 |
T |
A |
7: 49,899,398 (GRCm39) |
I336N |
probably benign |
Het |
Or52ad1 |
T |
C |
7: 102,995,805 (GRCm39) |
Y110C |
probably damaging |
Het |
Or5p55 |
T |
C |
7: 107,567,254 (GRCm39) |
S217P |
probably damaging |
Het |
Or8g20 |
T |
A |
9: 39,395,857 (GRCm39) |
I231F |
probably damaging |
Het |
Patl1 |
A |
T |
19: 11,914,723 (GRCm39) |
K625* |
probably null |
Het |
Qrsl1 |
G |
A |
10: 43,770,596 (GRCm39) |
P99S |
possibly damaging |
Het |
Scart2 |
T |
C |
7: 139,875,756 (GRCm39) |
F340S |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,979,418 (GRCm39) |
Y28F |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,917,982 (GRCm39) |
I575F |
probably benign |
Het |
Tbx5 |
T |
A |
5: 120,009,345 (GRCm39) |
S285T |
possibly damaging |
Het |
Tmem229a |
A |
T |
6: 24,955,539 (GRCm39) |
S72T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,576,748 (GRCm39) |
D24715G |
probably damaging |
Het |
Zfp784 |
T |
C |
7: 5,038,670 (GRCm39) |
|
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,769,107 (GRCm39) |
K85* |
probably null |
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 |
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 |
R4554:Rfx8
|
UTSW |
1 |
39,720,100 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2015-04-16 |