Incidental Mutation 'R5171:Rexo5'
| ID |
398716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rexo5
|
| Ensembl Gene |
ENSMUSG00000030924 |
| Gene Name |
RNA exonuclease 5 |
| Synonyms |
2610020H08Rik |
| MMRRC Submission |
042751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R5171 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119393229-119448166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119423002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 278
(I278N)
|
| 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: I278N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033218
Gene: ENSMUSG00000030924
AA Change: I278N
| 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: I86N
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081694
Gene: ENSMUSG00000030924
AA Change: I86N
| 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 |
possibly damaging
Transcript: ENSMUST00000106520
AA Change: I278N
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102130
Gene: ENSMUSG00000030924
AA Change: I278N
| 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: ENSMUST00000137015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207042
|
| Meta Mutation Damage Score |
0.6443 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
A |
1: 130,670,584 (GRCm39) |
Q269K |
probably benign |
Het |
| Acad9 |
T |
A |
3: 36,128,547 (GRCm39) |
I136N |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,039 (GRCm39) |
S183P |
probably damaging |
Het |
| Atp11b |
C |
T |
3: 35,887,086 (GRCm39) |
T690I |
probably damaging |
Het |
| Bcl2l12 |
G |
A |
7: 44,640,818 (GRCm39) |
|
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,752,503 (GRCm39) |
|
noncoding transcript |
Het |
| Ccl12 |
T |
C |
11: 81,993,460 (GRCm39) |
C33R |
probably damaging |
Het |
| Cdc25a |
T |
A |
9: 109,706,229 (GRCm39) |
S57R |
probably benign |
Het |
| Coro2a |
T |
A |
4: 46,542,372 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,749,605 (GRCm39) |
V55A |
possibly damaging |
Het |
| Ddn |
A |
G |
15: 98,704,207 (GRCm39) |
S362P |
possibly damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Donson |
A |
G |
16: 91,478,181 (GRCm39) |
V258A |
possibly damaging |
Het |
| Gm3336 |
G |
A |
8: 71,174,524 (GRCm39) |
V163I |
probably benign |
Het |
| Gper1 |
C |
T |
5: 139,412,413 (GRCm39) |
R253C |
probably damaging |
Het |
| Gpsm1 |
T |
A |
2: 26,217,476 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
A |
G |
5: 135,469,156 (GRCm39) |
S251P |
probably damaging |
Het |
| Ifi214 |
A |
G |
1: 173,354,200 (GRCm39) |
S157P |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,937,907 (GRCm39) |
V1535A |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,396,430 (GRCm39) |
N185S |
probably benign |
Het |
| Mnx1 |
T |
C |
5: 29,679,851 (GRCm39) |
Q252R |
unknown |
Het |
| Mroh3 |
A |
T |
1: 136,119,394 (GRCm39) |
L463Q |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,406,967 (GRCm39) |
V1030A |
possibly damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,640 (GRCm39) |
T257A |
probably benign |
Het |
| Or5ak20 |
T |
C |
2: 85,184,114 (GRCm39) |
D52G |
probably benign |
Het |
| Or5w1 |
T |
G |
2: 87,486,888 (GRCm39) |
I126L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,167,419 (GRCm39) |
Y1015H |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,801,829 (GRCm39) |
T256I |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,300,499 (GRCm39) |
S77T |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,741,808 (GRCm39) |
A804T |
probably benign |
Het |
| Slc24a2 |
T |
A |
4: 86,914,871 (GRCm39) |
I589F |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,951,181 (GRCm39) |
I217K |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,583,704 (GRCm39) |
T529A |
probably benign |
Het |
| Spata22 |
T |
A |
11: 73,227,034 (GRCm39) |
S83T |
probably damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,854,414 (GRCm39) |
T91S |
possibly damaging |
Het |
| Stac2 |
A |
T |
11: 97,934,324 (GRCm39) |
C127S |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,062,259 (GRCm39) |
H2531R |
probably benign |
Het |
| Tmem151a |
G |
T |
19: 5,132,061 (GRCm39) |
R382S |
probably damaging |
Het |
| Trim60 |
T |
C |
8: 65,453,176 (GRCm39) |
T358A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,665,236 (GRCm39) |
M1048L |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,965,074 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,356,203 (GRCm39) |
K35R |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,016,986 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- TTGACACCTACATCATGTCCATG -3'
(R):5'- GAGCTCAGGTCTTTACATCTCAGTTG -3'
Sequencing Primer
(F):5'- ACACCTACATCATGTCCATGTTTTTC -3'
(R):5'- CAGGTCTTTACATCTCAGTTGAATGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation