Incidental Mutation 'IGL02870:Rfx8'
ID |
362545 |
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 # |
IGL02870
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
39704459-39760149 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 39722871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 249
(V249I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151913]
|
AlphaFold |
D3YU81 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126760
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151913
AA Change: V249I
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121212 Gene: ENSMUSG00000057173 AA Change: V249I
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,711,851 (GRCm39) |
V1042M |
probably benign |
Het |
Agmat |
C |
A |
4: 141,474,253 (GRCm39) |
H45N |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,258,936 (GRCm39) |
V520D |
probably damaging |
Het |
Ccser1 |
T |
A |
6: 61,288,276 (GRCm39) |
N146K |
probably damaging |
Het |
Cdhr4 |
T |
A |
9: 107,875,263 (GRCm39) |
|
probably null |
Het |
Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
Cyp3a59 |
T |
C |
5: 146,034,994 (GRCm39) |
I224T |
probably benign |
Het |
Ddx19a |
G |
T |
8: 111,710,258 (GRCm39) |
P114Q |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,753,452 (GRCm39) |
V275A |
probably damaging |
Het |
Fgd6 |
T |
C |
10: 93,881,026 (GRCm39) |
S627P |
probably damaging |
Het |
Flywch1 |
C |
T |
17: 23,974,876 (GRCm39) |
G541D |
probably damaging |
Het |
Grk2 |
T |
C |
19: 4,340,430 (GRCm39) |
D317G |
probably damaging |
Het |
H2-M5 |
T |
C |
17: 37,299,925 (GRCm39) |
E83G |
probably benign |
Het |
Hltf |
T |
C |
3: 20,154,037 (GRCm39) |
F658L |
probably damaging |
Het |
Hmmr |
G |
T |
11: 40,604,902 (GRCm39) |
Q390K |
possibly damaging |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,461,416 (GRCm39) |
T2548S |
probably benign |
Het |
Or1j13 |
G |
A |
2: 36,370,043 (GRCm39) |
A33V |
probably benign |
Het |
P3h1 |
C |
T |
4: 119,104,768 (GRCm39) |
R684W |
probably damaging |
Het |
Peli2 |
G |
A |
14: 48,493,722 (GRCm39) |
V315M |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,836,673 (GRCm39) |
K115* |
probably null |
Het |
Plcxd1 |
A |
G |
5: 110,249,271 (GRCm39) |
T33A |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,193,262 (GRCm39) |
S931P |
probably damaging |
Het |
Retsat |
T |
C |
6: 72,584,007 (GRCm39) |
Y500H |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,889,867 (GRCm39) |
I599L |
unknown |
Het |
Sardh |
A |
T |
2: 27,125,503 (GRCm39) |
I337N |
possibly damaging |
Het |
Serpinb7 |
A |
T |
1: 107,378,017 (GRCm39) |
M237L |
probably damaging |
Het |
Slc35f1 |
A |
G |
10: 52,809,303 (GRCm39) |
S97G |
possibly damaging |
Het |
Stab1 |
T |
C |
14: 30,861,354 (GRCm39) |
D2520G |
probably benign |
Het |
Tnfrsf11b |
C |
T |
15: 54,119,423 (GRCm39) |
V184M |
probably benign |
Het |
Trpv4 |
A |
T |
5: 114,763,117 (GRCm39) |
V764E |
probably damaging |
Het |
Tsc22d1 |
C |
A |
14: 76,655,057 (GRCm39) |
A430E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,580,949 (GRCm39) |
R23315G |
probably damaging |
Het |
Txnrd1 |
A |
G |
10: 82,731,813 (GRCm39) |
I478M |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,410,555 (GRCm39) |
V2401A |
probably benign |
Het |
Vill |
T |
C |
9: 118,890,967 (GRCm39) |
L191P |
probably damaging |
Het |
Vmn1r30 |
A |
G |
6: 58,412,355 (GRCm39) |
V159A |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,421,740 (GRCm39) |
N939K |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,003,337 (GRCm39) |
V2926A |
probably damaging |
Het |
Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
Zfp12 |
C |
A |
5: 143,231,086 (GRCm39) |
T471N |
probably damaging |
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 |
|
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 |
2015-12-18 |