Incidental Mutation 'R4168:Rexo5'
| ID |
320660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rexo5
|
| Ensembl Gene |
ENSMUSG00000030924 |
| Gene Name |
RNA exonuclease 5 |
| Synonyms |
2610020H08Rik |
| MMRRC Submission |
041009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R4168 (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: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (39/40) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,796,788 (GRCm39) |
V578A |
possibly damaging |
Het |
| Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Ctif |
A |
C |
18: 75,770,286 (GRCm39) |
L33R |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
| Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
| Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
| Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,478 (GRCm39) |
L466P |
probably damaging |
Het |
| Padi6 |
A |
G |
4: 140,469,245 (GRCm39) |
C32R |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
| Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,684,673 (GRCm39) |
I261V |
probably benign |
Het |
| Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
| Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGCGTGTACTTAAGGC -3'
(R):5'- TGGACAATGCATCAAAAGCTACAG -3'
Sequencing Primer
(F):5'- TGTACTTAAGGCAGTGGCATAGC -3'
(R):5'- TATATAAATCAGGCCGCCCTTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation