Incidental Mutation 'R0980:Rexo5'
| ID |
97003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rexo5
|
| Ensembl Gene |
ENSMUSG00000030924 |
| Gene Name |
RNA exonuclease 5 |
| Synonyms |
2610020H08Rik |
| MMRRC Submission |
039106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R0980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119393229-119448166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119423035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 289
(V289A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033218]
[ENSMUST00000084644]
[ENSMUST00000106520]
[ENSMUST00000133758]
|
| AlphaFold |
D3YW29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033218
AA Change: V289A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033218
Gene: ENSMUSG00000030924
AA Change: V289A
| 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 damaging
Transcript: ENSMUST00000084644
AA Change: V97A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000081694
Gene: ENSMUSG00000030924
AA Change: V97A
| 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: V289A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102130
Gene: ENSMUSG00000030924
AA Change: V289A
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 89.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
T |
C |
9: 65,424,253 (GRCm39) |
H20R |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,467,866 (GRCm39) |
E1778G |
possibly damaging |
Het |
| Arhgef18 |
C |
T |
8: 3,439,095 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,149,706 (GRCm39) |
|
probably null |
Het |
| Ccr6 |
A |
G |
17: 8,474,846 (GRCm39) |
E17G |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,100,720 (GRCm39) |
T605A |
probably damaging |
Het |
| Cnga4 |
C |
A |
7: 105,057,213 (GRCm39) |
P439T |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cyp2a5 |
A |
G |
7: 26,538,431 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,815,402 (GRCm39) |
T197A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,378 (GRCm39) |
D1200G |
probably damaging |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,888,214 (GRCm39) |
D20G |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,145,665 (GRCm39) |
S432P |
probably benign |
Het |
| Immt |
T |
C |
6: 71,851,310 (GRCm39) |
V54A |
probably benign |
Het |
| Jhy |
T |
G |
9: 40,856,133 (GRCm39) |
Y118S |
possibly damaging |
Het |
| Kif23 |
C |
A |
9: 61,844,046 (GRCm39) |
K154N |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,846,442 (GRCm39) |
T169A |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,827 (GRCm39) |
E443G |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,023,587 (GRCm39) |
C786S |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,247,550 (GRCm39) |
E278D |
probably benign |
Het |
| Nt5c2 |
G |
T |
19: 46,887,317 (GRCm39) |
Q162K |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,888,887 (GRCm39) |
V2109A |
possibly damaging |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,704 (GRCm39) |
T304A |
probably benign |
Het |
| Or8k38 |
T |
A |
2: 86,488,209 (GRCm39) |
I198L |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,881,921 (GRCm39) |
N74K |
probably benign |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Pgd |
A |
T |
4: 149,238,768 (GRCm39) |
|
probably null |
Het |
| Pld1 |
T |
A |
3: 28,178,724 (GRCm39) |
S873T |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,272 (GRCm39) |
C664S |
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Ptgs2 |
A |
C |
1: 149,980,061 (GRCm39) |
D333A |
probably damaging |
Het |
| Rnf125 |
T |
A |
18: 21,112,117 (GRCm39) |
C49* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,216 (GRCm39) |
R729L |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,994 (GRCm39) |
S407G |
possibly damaging |
Het |
| Slc35a4 |
C |
A |
18: 36,815,834 (GRCm39) |
N221K |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,220,761 (GRCm39) |
D563G |
probably benign |
Het |
| Stk39 |
G |
T |
2: 68,222,515 (GRCm39) |
T183K |
probably damaging |
Het |
| Tc2n |
T |
A |
12: 101,644,835 (GRCm39) |
K264* |
probably null |
Het |
| Trim23 |
C |
T |
13: 104,324,635 (GRCm39) |
R238W |
probably damaging |
Het |
| Trim66 |
C |
A |
7: 109,054,877 (GRCm39) |
V1240L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,584,389 (GRCm39) |
T13913A |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,832 (GRCm39) |
C349G |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- tctttttgacacctacatcatgtCCATGTTTT -3'
(R):5'- GAGCCAACTATATTCCCCTAATTCCTTCATTT -3'
Sequencing Primer
(F):5'- cctacatcatgtCCATGTTTTTCCTC -3'
(R):5'- GTTTTCCAGCATAAAGCAATGAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation