Incidental Mutation 'IGL01308:Rexo5'
ID |
73530 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rexo5
|
Ensembl Gene |
ENSMUSG00000030924 |
Gene Name |
RNA exonuclease 5 |
Synonyms |
2610020H08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
IGL01308
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
119393229-119448166 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119433499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 419
(W419R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033218
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033218]
[ENSMUST00000084644]
[ENSMUST00000106520]
[ENSMUST00000133758]
|
AlphaFold |
D3YW29 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033218
AA Change: W419R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000033218 Gene: ENSMUSG00000030924 AA Change: W419R
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
Pfam:RNase_T
|
225 |
330 |
1.4e-12 |
PFAM |
Blast:RRM
|
424 |
463 |
5e-17 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084644
AA Change: W293R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000081694 Gene: ENSMUSG00000030924 AA Change: W293R
Domain | Start | End | E-Value | Type |
EXOIII
|
31 |
189 |
2.72e-29 |
SMART |
RRM
|
298 |
367 |
3.23e-9 |
SMART |
Blast:RRM
|
393 |
437 |
2e-22 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106520
AA Change: W486R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102130 Gene: ENSMUSG00000030924 AA Change: W486R
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
EXOIII
|
223 |
381 |
2.72e-29 |
SMART |
RRM
|
491 |
560 |
3.23e-9 |
SMART |
RRM
|
586 |
661 |
3.28e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133758
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207042
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,748,997 (GRCm39) |
D1256G |
probably damaging |
Het |
Acot7 |
A |
T |
4: 152,345,353 (GRCm39) |
M308L |
probably benign |
Het |
Adarb2 |
A |
G |
13: 8,253,329 (GRCm39) |
R25G |
possibly damaging |
Het |
Ano1 |
C |
A |
7: 144,149,235 (GRCm39) |
Q875H |
probably damaging |
Het |
Ano6 |
G |
A |
15: 95,811,542 (GRCm39) |
|
probably null |
Het |
Defa40 |
C |
T |
8: 21,740,434 (GRCm39) |
T80I |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,523 (GRCm39) |
D455V |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,088,022 (GRCm39) |
P354L |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,768,572 (GRCm39) |
H1454R |
probably damaging |
Het |
Esyt1 |
T |
A |
10: 128,355,660 (GRCm39) |
N421Y |
possibly damaging |
Het |
Gen1 |
T |
C |
12: 11,306,871 (GRCm39) |
T100A |
probably damaging |
Het |
Jak3 |
A |
T |
8: 72,137,810 (GRCm39) |
D780V |
probably damaging |
Het |
Klrb1a |
A |
G |
6: 128,595,008 (GRCm39) |
|
probably benign |
Het |
Lrp8 |
A |
G |
4: 107,721,273 (GRCm39) |
I826M |
probably benign |
Het |
Mcmbp |
G |
A |
7: 128,316,209 (GRCm39) |
Q214* |
probably null |
Het |
Mtmr7 |
A |
T |
8: 41,050,388 (GRCm39) |
Y136N |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,140,151 (GRCm39) |
Y88H |
probably benign |
Het |
Nkx2-4 |
A |
G |
2: 146,926,260 (GRCm39) |
Y201H |
possibly damaging |
Het |
Or3a1d |
A |
G |
11: 74,237,486 (GRCm39) |
L308P |
probably damaging |
Het |
Or52n4b |
T |
A |
7: 108,143,933 (GRCm39) |
L65* |
probably null |
Het |
Or6c5 |
A |
T |
10: 129,074,476 (GRCm39) |
T153S |
probably benign |
Het |
Pigg |
T |
C |
5: 108,484,343 (GRCm39) |
L663P |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,741,917 (GRCm39) |
V343A |
probably damaging |
Het |
Plekha4 |
A |
G |
7: 45,187,659 (GRCm39) |
S244G |
probably damaging |
Het |
Prkce |
T |
A |
17: 86,932,890 (GRCm39) |
D623E |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,159,425 (GRCm39) |
|
probably benign |
Het |
Rnaseh2b |
A |
G |
14: 62,602,706 (GRCm39) |
|
probably null |
Het |
Rras |
A |
G |
7: 44,670,709 (GRCm39) |
Y193C |
possibly damaging |
Het |
Sall4 |
T |
C |
2: 168,592,164 (GRCm39) |
I997V |
probably damaging |
Het |
Sec31b |
A |
G |
19: 44,512,122 (GRCm39) |
F591L |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,059,610 (GRCm39) |
L232P |
probably benign |
Het |
Slc13a3 |
A |
T |
2: 165,248,700 (GRCm39) |
I526N |
probably damaging |
Het |
Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
Snrnp25 |
A |
G |
11: 32,158,745 (GRCm39) |
|
probably benign |
Het |
Tex264 |
T |
C |
9: 106,539,607 (GRCm39) |
K201E |
possibly damaging |
Het |
Tgfb1 |
G |
T |
7: 25,387,442 (GRCm39) |
R50L |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
Tmed1 |
A |
T |
9: 21,421,338 (GRCm39) |
C45* |
probably null |
Het |
Tmem260 |
A |
G |
14: 48,749,415 (GRCm39) |
N638S |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,867,199 (GRCm39) |
E274G |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,272,802 (GRCm39) |
|
probably null |
Het |
Trim3 |
A |
T |
7: 105,266,676 (GRCm39) |
V502E |
probably damaging |
Het |
Trmo |
C |
T |
4: 46,377,053 (GRCm39) |
|
probably benign |
Het |
Xab2 |
C |
T |
8: 3,666,332 (GRCm39) |
R192Q |
probably benign |
Het |
|
Other mutations in Rexo5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0347:Rexo5
|
UTSW |
7 |
119,423,119 (GRCm39) |
critical splice donor site |
probably null |
|
R0442:Rexo5
|
UTSW |
7 |
119,442,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R0589:Rexo5
|
UTSW |
7 |
119,444,606 (GRCm39) |
missense |
probably benign |
0.00 |
R0980:Rexo5
|
UTSW |
7 |
119,423,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Rexo5
|
UTSW |
7 |
119,400,581 (GRCm39) |
critical splice donor site |
probably null |
|
R1465:Rexo5
|
UTSW |
7 |
119,400,581 (GRCm39) |
critical splice donor site |
probably null |
|
R1505:Rexo5
|
UTSW |
7 |
119,398,826 (GRCm39) |
nonsense |
probably null |
|
R1775:Rexo5
|
UTSW |
7 |
119,444,634 (GRCm39) |
missense |
probably benign |
0.00 |
R1911:Rexo5
|
UTSW |
7 |
119,398,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1996:Rexo5
|
UTSW |
7 |
119,423,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R4168:Rexo5
|
UTSW |
7 |
119,426,621 (GRCm39) |
intron |
probably benign |
|
R4169:Rexo5
|
UTSW |
7 |
119,426,621 (GRCm39) |
intron |
probably benign |
|
R4402:Rexo5
|
UTSW |
7 |
119,433,599 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4486:Rexo5
|
UTSW |
7 |
119,424,800 (GRCm39) |
missense |
probably benign |
0.00 |
R4620:Rexo5
|
UTSW |
7 |
119,426,526 (GRCm39) |
missense |
probably benign |
0.37 |
R4621:Rexo5
|
UTSW |
7 |
119,418,722 (GRCm39) |
missense |
probably benign |
0.19 |
R4865:Rexo5
|
UTSW |
7 |
119,400,553 (GRCm39) |
nonsense |
probably null |
|
R4884:Rexo5
|
UTSW |
7 |
119,424,774 (GRCm39) |
nonsense |
probably null |
|
R5171:Rexo5
|
UTSW |
7 |
119,423,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R5209:Rexo5
|
UTSW |
7 |
119,433,522 (GRCm39) |
nonsense |
probably null |
|
R5266:Rexo5
|
UTSW |
7 |
119,443,660 (GRCm39) |
missense |
probably benign |
0.00 |
R5463:Rexo5
|
UTSW |
7 |
119,433,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Rexo5
|
UTSW |
7 |
119,433,626 (GRCm39) |
critical splice donor site |
probably null |
|
R6163:Rexo5
|
UTSW |
7 |
119,404,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R6305:Rexo5
|
UTSW |
7 |
119,427,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Rexo5
|
UTSW |
7 |
119,404,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R7282:Rexo5
|
UTSW |
7 |
119,417,636 (GRCm39) |
missense |
probably damaging |
0.97 |
R8143:Rexo5
|
UTSW |
7 |
119,433,484 (GRCm39) |
splice site |
probably null |
|
R8379:Rexo5
|
UTSW |
7 |
119,433,508 (GRCm39) |
missense |
probably benign |
0.03 |
R8550:Rexo5
|
UTSW |
7 |
119,400,568 (GRCm39) |
missense |
probably benign |
0.01 |
R8841:Rexo5
|
UTSW |
7 |
119,448,011 (GRCm39) |
missense |
probably benign |
0.00 |
R9133:Rexo5
|
UTSW |
7 |
119,444,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Rexo5
|
UTSW |
7 |
119,402,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R9404:Rexo5
|
UTSW |
7 |
119,400,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R9499:Rexo5
|
UTSW |
7 |
119,404,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |