Incidental Mutation 'R0060:Rfx8'
| ID |
64384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx8
|
| Ensembl Gene |
ENSMUSG00000057173 |
| Gene Name |
regulatory factor X 8 |
| Synonyms |
4933400N17Rik |
| MMRRC Submission |
038353-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0060 (G1)
|
| Quality Score |
124 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39704459-39760149 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 39757565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151913]
|
| AlphaFold |
D3YU81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151913
|
| SMART Domains |
Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
A |
C |
11: 58,313,008 (GRCm39) |
|
probably benign |
Het |
| A630091E08Rik |
A |
G |
7: 98,192,875 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 109,961,306 (GRCm39) |
T539A |
probably damaging |
Het |
| Ankrd60 |
A |
T |
2: 173,414,406 (GRCm39) |
M1K |
probably null |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Cabcoco1 |
A |
T |
10: 68,369,692 (GRCm39) |
|
probably null |
Het |
| Capn7 |
T |
C |
14: 31,087,561 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
G |
A |
9: 78,610,389 (GRCm39) |
E1145K |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,806,399 (GRCm39) |
V2353D |
probably damaging |
Het |
| Cep350 |
C |
T |
1: 155,804,372 (GRCm39) |
D904N |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,688,019 (GRCm39) |
|
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,302,542 (GRCm39) |
|
probably benign |
Het |
| Cst11 |
T |
A |
2: 148,612,322 (GRCm39) |
Q105L |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,786,857 (GRCm39) |
L11S |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,198,009 (GRCm39) |
I317T |
possibly damaging |
Het |
| Itgad |
T |
C |
7: 127,802,158 (GRCm39) |
S979P |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,791,442 (GRCm39) |
|
probably null |
Het |
| Nubpl |
T |
C |
12: 52,357,470 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
T |
C |
17: 38,116,891 (GRCm39) |
L285P |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,864,118 (GRCm39) |
Y149C |
probably damaging |
Het |
| Pard3b |
G |
A |
1: 61,678,474 (GRCm39) |
E25K |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 42,836,197 (GRCm39) |
Y8* |
probably null |
Het |
| Phf14 |
T |
C |
6: 11,953,316 (GRCm39) |
S352P |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Prap1 |
G |
T |
7: 139,673,390 (GRCm39) |
|
probably benign |
Het |
| Prdm8 |
T |
A |
5: 98,333,119 (GRCm39) |
F229I |
probably benign |
Het |
| Rfx6 |
T |
C |
10: 51,553,936 (GRCm39) |
F11L |
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,001,129 (GRCm39) |
R1528C |
probably damaging |
Het |
| Ripk4 |
G |
A |
16: 97,564,718 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,231 (GRCm39) |
I695F |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,859,293 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,527,104 (GRCm39) |
T381S |
probably benign |
Het |
| Suv39h2 |
T |
C |
2: 3,465,953 (GRCm39) |
Y134C |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,657,073 (GRCm39) |
A185V |
unknown |
Het |
| Tep1 |
T |
A |
14: 51,103,486 (GRCm39) |
D268V |
probably damaging |
Het |
| Tmem89 |
T |
A |
9: 108,744,485 (GRCm39) |
V126D |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,098,121 (GRCm39) |
T46A |
probably benign |
Het |
| Trmt6 |
C |
T |
2: 132,648,689 (GRCm39) |
R415Q |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,035,006 (GRCm39) |
K1625E |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,964,420 (GRCm39) |
I292N |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTCCTCAGAGAGTCAGCAGTCC -3'
(R):5'- AGATCATTGTCTTCTGCCTGTGAGC -3'
Sequencing Primer
(F):5'- AGGCTTTACCATCAGCGAC -3'
(R):5'- GTTCCATTCAGTCACCTAGACAGAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation