Incidental Mutation 'R4169:Rexo5'
ID |
320695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rexo5
|
Ensembl Gene |
ENSMUSG00000030924 |
Gene Name |
RNA exonuclease 5 |
Synonyms |
2610020H08Rik |
MMRRC Submission |
041010-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R4169 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119393229-119448166 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 119426621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033218]
[ENSMUST00000084644]
[ENSMUST00000106520]
[ENSMUST00000133758]
|
AlphaFold |
D3YW29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033218
|
SMART Domains |
Protein: ENSMUSP00000033218 Gene: ENSMUSG00000030924
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 |
probably benign
Transcript: ENSMUST00000084644
|
SMART Domains |
Protein: ENSMUSP00000081694 Gene: ENSMUSG00000030924
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 benign
Transcript: ENSMUST00000106520
|
SMART Domains |
Protein: ENSMUSP00000102130 Gene: ENSMUSG00000030924
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: ENSMUST00000149132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155938
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207042
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
98% (48/49) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 103,002,157 (GRCm39) |
M546K |
probably damaging |
Het |
Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
Btn1a1 |
A |
G |
13: 23,649,325 (GRCm39) |
L9P |
probably benign |
Het |
Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,479,391 (GRCm39) |
P758L |
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,476,549 (GRCm39) |
Y241* |
probably null |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Fbn1 |
T |
C |
2: 125,205,872 (GRCm39) |
T1042A |
possibly damaging |
Het |
Gm5445 |
A |
G |
13: 12,393,527 (GRCm39) |
|
noncoding transcript |
Het |
Gnat3 |
T |
C |
5: 18,208,862 (GRCm39) |
F189L |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,837,008 (GRCm39) |
T815A |
probably damaging |
Het |
Hmcn1 |
A |
C |
1: 150,471,750 (GRCm39) |
|
probably null |
Het |
Hrc |
A |
G |
7: 44,986,181 (GRCm39) |
D444G |
probably benign |
Het |
Ighv1-53 |
T |
A |
12: 115,122,166 (GRCm39) |
I70F |
possibly damaging |
Het |
Kat7 |
A |
G |
11: 95,171,298 (GRCm39) |
F469L |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
Krtap6-1 |
A |
G |
16: 88,828,584 (GRCm39) |
|
probably null |
Het |
Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
Mthfr-ps1 |
T |
C |
5: 78,622,436 (GRCm39) |
|
noncoding transcript |
Het |
Nop53 |
A |
T |
7: 15,676,244 (GRCm39) |
W152R |
probably benign |
Het |
Or5p58 |
A |
T |
7: 107,694,591 (GRCm39) |
M62K |
probably damaging |
Het |
Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
Or8s8 |
A |
G |
15: 98,354,878 (GRCm39) |
E229G |
probably benign |
Het |
Pcdh1 |
A |
T |
18: 38,331,358 (GRCm39) |
N548K |
probably damaging |
Het |
Pcdhga12 |
A |
G |
18: 37,899,467 (GRCm39) |
I100V |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,183,675 (GRCm39) |
H1743R |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,700,515 (GRCm39) |
V1807A |
probably benign |
Het |
Rabl2 |
T |
C |
15: 89,474,582 (GRCm39) |
M1V |
probably null |
Het |
Rfng |
C |
G |
11: 120,674,772 (GRCm39) |
G73R |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,809,188 (GRCm39) |
L459P |
possibly damaging |
Het |
Samd11 |
T |
A |
4: 156,332,203 (GRCm39) |
D536V |
probably damaging |
Het |
Slc9a5 |
A |
G |
8: 106,084,032 (GRCm39) |
T451A |
possibly damaging |
Het |
Snapc1 |
T |
A |
12: 74,029,265 (GRCm39) |
N349K |
probably benign |
Het |
Sox1ot |
A |
G |
8: 12,480,544 (GRCm39) |
|
noncoding transcript |
Het |
Tmem178 |
C |
T |
17: 81,252,232 (GRCm39) |
H39Y |
possibly damaging |
Het |
Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,703,103 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,762,909 (GRCm39) |
D3250G |
probably damaging |
Het |
Ube2nl |
T |
A |
7: 61,199,380 (GRCm39) |
|
noncoding transcript |
Het |
Vps25 |
T |
C |
11: 101,144,918 (GRCm39) |
S39P |
probably damaging |
Het |
Zkscan14 |
G |
A |
5: 145,132,985 (GRCm39) |
T182I |
possibly damaging |
Het |
|
Other mutations in Rexo5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01308:Rexo5
|
APN |
7 |
119,433,499 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTGTACTTAAGGCAGTGGC -3'
(R):5'- TCTGGACAATGCATCAAAAGC -3'
Sequencing Primer
(F):5'- TGTACTTAAGGCAGTGGCATAGC -3'
(R):5'- TATATAAATCAGGCCGCCCTTGG -3'
|
Posted On |
2015-06-12 |