Incidental Mutation 'R1146:Rexo1'
ID |
102451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rexo1
|
Ensembl Gene |
ENSMUSG00000047417 |
Gene Name |
REX1, RNA exonuclease 1 |
Synonyms |
Rex1, Tceb3bp1, 2610511M11Rik, 1700021P10Rik |
MMRRC Submission |
039219-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.413)
|
Stock # |
R1146 (G1)
|
Quality Score |
124 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80376756-80397394 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 80380239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 919
(S919N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049705
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057910]
[ENSMUST00000183160]
|
AlphaFold |
Q7TT28 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057910
AA Change: S919N
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000049705 Gene: ENSMUSG00000047417 AA Change: S919N
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
53 |
N/A |
INTRINSIC |
coiled coil region
|
83 |
113 |
N/A |
INTRINSIC |
low complexity region
|
180 |
188 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
low complexity region
|
507 |
525 |
N/A |
INTRINSIC |
low complexity region
|
533 |
551 |
N/A |
INTRINSIC |
low complexity region
|
561 |
583 |
N/A |
INTRINSIC |
low complexity region
|
667 |
682 |
N/A |
INTRINSIC |
Pfam:EloA-BP1
|
794 |
954 |
3.8e-72 |
PFAM |
EXOIII
|
1051 |
1210 |
2.36e-38 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000182260
AA Change: S241N
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182682
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183073
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183233
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183160
|
Meta Mutation Damage Score |
0.0716 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 97.6%
- 10x: 85.8%
- 20x: 55.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,679,795 (GRCm39) |
V1848E |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,727,343 (GRCm39) |
K158E |
probably damaging |
Het |
Arrdc4 |
T |
A |
7: 68,389,756 (GRCm39) |
E356D |
probably damaging |
Het |
Asb4 |
A |
G |
6: 5,423,591 (GRCm39) |
N246S |
probably damaging |
Het |
Ctsj |
G |
A |
13: 61,150,312 (GRCm39) |
P230L |
probably benign |
Het |
Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,206 (GRCm39) |
S217C |
possibly damaging |
Het |
Gaa |
G |
T |
11: 119,165,730 (GRCm39) |
R81L |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,074,341 (GRCm39) |
V368A |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
Gucy1a2 |
T |
A |
9: 3,759,830 (GRCm39) |
N545K |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,796,444 (GRCm39) |
S1939P |
probably benign |
Het |
Ifnk |
T |
C |
4: 35,152,231 (GRCm39) |
I53T |
probably benign |
Het |
Iqub |
G |
A |
6: 24,505,627 (GRCm39) |
L94F |
possibly damaging |
Het |
Kpna1 |
C |
T |
16: 35,853,749 (GRCm39) |
R460* |
probably null |
Het |
Masp1 |
T |
C |
16: 23,310,865 (GRCm39) |
E189G |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,250 (GRCm39) |
I105V |
probably benign |
Het |
Msh2 |
C |
A |
17: 87,987,488 (GRCm39) |
D209E |
probably benign |
Het |
Nsf |
G |
A |
11: 103,719,364 (GRCm39) |
T646I |
probably damaging |
Het |
Or10g9b |
A |
T |
9: 39,917,390 (GRCm39) |
V285D |
possibly damaging |
Het |
Or4c10b |
C |
T |
2: 89,711,550 (GRCm39) |
P127S |
probably damaging |
Het |
Or5b24 |
T |
A |
19: 12,912,329 (GRCm39) |
S76T |
possibly damaging |
Het |
Or6b2 |
G |
A |
1: 92,407,612 (GRCm39) |
H244Y |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,722,374 (GRCm39) |
I327F |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,682,552 (GRCm39) |
D832G |
probably damaging |
Het |
Pfkfb4 |
A |
G |
9: 108,836,794 (GRCm39) |
E163G |
probably benign |
Het |
Phc1 |
T |
C |
6: 122,300,416 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
Ppfia3 |
A |
C |
7: 45,001,639 (GRCm39) |
D424E |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,178,711 (GRCm39) |
|
probably null |
Het |
Sec31a |
T |
C |
5: 100,510,032 (GRCm39) |
N1152D |
probably damaging |
Het |
Sel1l3 |
A |
T |
5: 53,274,445 (GRCm39) |
F1012I |
possibly damaging |
Het |
Sema4c |
A |
G |
1: 36,589,646 (GRCm39) |
V539A |
probably benign |
Het |
Sf3b5 |
A |
G |
10: 12,884,575 (GRCm39) |
E70G |
possibly damaging |
Het |
Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
Tor1aip2 |
T |
C |
1: 155,940,483 (GRCm39) |
V263A |
possibly damaging |
Het |
Unc45b |
A |
G |
11: 82,813,733 (GRCm39) |
E380G |
probably damaging |
Het |
Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
Usp50 |
T |
C |
2: 126,551,392 (GRCm39) |
Y29C |
probably benign |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
Zfp110 |
A |
G |
7: 12,580,721 (GRCm39) |
|
probably null |
Het |
Zfp335 |
G |
A |
2: 164,738,043 (GRCm39) |
A856V |
probably benign |
Het |
Zfp652 |
G |
A |
11: 95,640,608 (GRCm39) |
E178K |
possibly damaging |
Het |
|
Other mutations in Rexo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Rexo1
|
APN |
10 |
80,386,798 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01128:Rexo1
|
APN |
10 |
80,385,573 (GRCm39) |
missense |
probably benign |
|
IGL01890:Rexo1
|
APN |
10 |
80,378,845 (GRCm39) |
missense |
possibly damaging |
0.85 |
PIT4453001:Rexo1
|
UTSW |
10 |
80,386,231 (GRCm39) |
missense |
probably damaging |
0.97 |
R0044:Rexo1
|
UTSW |
10 |
80,380,212 (GRCm39) |
missense |
probably benign |
0.16 |
R0365:Rexo1
|
UTSW |
10 |
80,378,410 (GRCm39) |
missense |
probably damaging |
0.99 |
R0573:Rexo1
|
UTSW |
10 |
80,380,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R1146:Rexo1
|
UTSW |
10 |
80,380,239 (GRCm39) |
missense |
probably benign |
0.04 |
R1511:Rexo1
|
UTSW |
10 |
80,385,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1523:Rexo1
|
UTSW |
10 |
80,378,585 (GRCm39) |
missense |
probably benign |
0.41 |
R1807:Rexo1
|
UTSW |
10 |
80,378,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1868:Rexo1
|
UTSW |
10 |
80,378,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R1935:Rexo1
|
UTSW |
10 |
80,386,303 (GRCm39) |
missense |
probably benign |
0.00 |
R1936:Rexo1
|
UTSW |
10 |
80,386,303 (GRCm39) |
missense |
probably benign |
0.00 |
R1957:Rexo1
|
UTSW |
10 |
80,379,200 (GRCm39) |
missense |
probably damaging |
0.96 |
R2084:Rexo1
|
UTSW |
10 |
80,397,100 (GRCm39) |
missense |
probably benign |
0.01 |
R2153:Rexo1
|
UTSW |
10 |
80,379,943 (GRCm39) |
nonsense |
probably null |
|
R2262:Rexo1
|
UTSW |
10 |
80,385,403 (GRCm39) |
missense |
probably benign |
0.02 |
R4471:Rexo1
|
UTSW |
10 |
80,378,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R4472:Rexo1
|
UTSW |
10 |
80,378,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R4690:Rexo1
|
UTSW |
10 |
80,382,255 (GRCm39) |
missense |
probably benign |
0.01 |
R4972:Rexo1
|
UTSW |
10 |
80,385,527 (GRCm39) |
missense |
probably damaging |
0.96 |
R6335:Rexo1
|
UTSW |
10 |
80,379,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R6505:Rexo1
|
UTSW |
10 |
80,378,845 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6615:Rexo1
|
UTSW |
10 |
80,379,848 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6949:Rexo1
|
UTSW |
10 |
80,386,470 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7612:Rexo1
|
UTSW |
10 |
80,385,497 (GRCm39) |
missense |
probably benign |
0.40 |
R7807:Rexo1
|
UTSW |
10 |
80,385,970 (GRCm39) |
missense |
probably benign |
0.09 |
R7840:Rexo1
|
UTSW |
10 |
80,386,572 (GRCm39) |
missense |
probably benign |
|
R8779:Rexo1
|
UTSW |
10 |
80,384,292 (GRCm39) |
missense |
probably benign |
0.26 |
R8897:Rexo1
|
UTSW |
10 |
80,378,437 (GRCm39) |
missense |
probably damaging |
0.98 |
R8995:Rexo1
|
UTSW |
10 |
80,386,095 (GRCm39) |
missense |
probably damaging |
0.96 |
R9094:Rexo1
|
UTSW |
10 |
80,378,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R9411:Rexo1
|
UTSW |
10 |
80,397,248 (GRCm39) |
missense |
|
|
R9438:Rexo1
|
UTSW |
10 |
80,378,848 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9524:Rexo1
|
UTSW |
10 |
80,386,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R9648:Rexo1
|
UTSW |
10 |
80,385,540 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Rexo1
|
UTSW |
10 |
80,385,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |