Incidental Mutation 'R7612:Rexo1'
| ID |
588674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rexo1
|
| Ensembl Gene |
ENSMUSG00000047417 |
| Gene Name |
REX1, RNA exonuclease 1 |
| Synonyms |
Rex1, Tceb3bp1, 2610511M11Rik, 1700021P10Rik |
| MMRRC Submission |
045680-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.413)
|
| Stock # |
R7612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80376756-80397394 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 80385497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 520
(S520R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057910]
|
| AlphaFold |
Q7TT28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057910
AA Change: S520R
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049705
Gene: ENSMUSG00000047417
AA Change: S520R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
83 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
682 |
N/A |
INTRINSIC |
|
Pfam:EloA-BP1
|
794 |
954 |
3.8e-72 |
PFAM |
|
EXOIII
|
1051 |
1210 |
2.36e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182260
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183073
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
T |
16: 88,570,496 (GRCm39) |
Y181* |
probably null |
Het |
| Adgrf2 |
T |
G |
17: 43,025,271 (GRCm39) |
K71T |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,076 (GRCm39) |
M1280K |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,224,405 (GRCm39) |
S541P |
possibly damaging |
Het |
| Cd19 |
G |
T |
7: 126,013,496 (GRCm39) |
Q98K |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,493,341 (GRCm39) |
I788N |
possibly damaging |
Het |
| Cpne2 |
A |
T |
8: 95,284,048 (GRCm39) |
I290L |
probably benign |
Het |
| Cpsf1 |
C |
T |
15: 76,481,209 (GRCm39) |
V1216I |
probably benign |
Het |
| Csad |
G |
A |
15: 102,097,357 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
A |
2: 104,560,853 (GRCm39) |
Q47L |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,455,123 (GRCm39) |
S105T |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,047 (GRCm39) |
P838Q |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,999,647 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Egfr |
A |
T |
11: 16,809,025 (GRCm39) |
N73I |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,657 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
A |
G |
3: 151,923,652 (GRCm39) |
Q123R |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,311,693 (GRCm39) |
I439T |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,079,506 (GRCm39) |
S261R |
possibly damaging |
Het |
| Gsdmd |
T |
G |
15: 75,736,803 (GRCm39) |
L140R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,478 (GRCm39) |
V201A |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,135,361 (GRCm39) |
M371K |
probably benign |
Het |
| Kalrn |
G |
A |
16: 34,134,582 (GRCm39) |
T412I |
possibly damaging |
Het |
| Kdm5b |
C |
T |
1: 134,552,656 (GRCm39) |
Q1211* |
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,517,671 (GRCm39) |
S1840P |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,781 (GRCm39) |
M376V |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,469,745 (GRCm39) |
T100A |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 113,013,168 (GRCm39) |
T812S |
possibly damaging |
Het |
| Nanp |
T |
A |
2: 150,881,158 (GRCm39) |
E30V |
probably null |
Het |
| Or2w1b |
G |
T |
13: 21,300,217 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c107 |
T |
G |
2: 88,788,849 (GRCm39) |
L13R |
probably damaging |
Het |
| Or5ac21 |
A |
T |
16: 59,123,990 (GRCm39) |
H158L |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,393 (GRCm39) |
N241I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,175,610 (GRCm39) |
N1924D |
probably benign |
Het |
| Pou1f1 |
A |
G |
16: 65,326,811 (GRCm39) |
N137S |
probably damaging |
Het |
| Ptgdr |
A |
G |
14: 45,096,094 (GRCm39) |
M206T |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,004,696 (GRCm39) |
T20A |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,727,005 (GRCm39) |
S94T |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,576,785 (GRCm39) |
V182A |
probably benign |
Het |
| Slfn2 |
A |
G |
11: 82,961,089 (GRCm39) |
E356G |
probably damaging |
Het |
| Spry4 |
C |
A |
18: 38,722,982 (GRCm39) |
K260N |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,187,375 (GRCm39) |
M136L |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,120,638 (GRCm39) |
V425A |
probably benign |
Het |
| Trim21 |
T |
A |
7: 102,208,742 (GRCm39) |
M326L |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,790,677 (GRCm39) |
Q158R |
probably benign |
Het |
| Tubgcp2 |
T |
A |
7: 139,580,964 (GRCm39) |
K663M |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,316 (GRCm39) |
I1094V |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,594,798 (GRCm39) |
S245P |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,351,838 (GRCm39) |
D34V |
probably null |
Het |
| Zbtb45 |
C |
T |
7: 12,741,326 (GRCm39) |
A311T |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,173,999 (GRCm39) |
S135P |
unknown |
Het |
|
| Other mutations in Rexo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Rexo1
|
APN |
10 |
80,386,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01128:Rexo1
|
APN |
10 |
80,385,573 (GRCm39) |
missense |
probably benign |
|
|
IGL01890:Rexo1
|
APN |
10 |
80,378,845 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
PIT4453001:Rexo1
|
UTSW |
10 |
80,386,231 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0044:Rexo1
|
UTSW |
10 |
80,380,212 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0365:Rexo1
|
UTSW |
10 |
80,378,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0573:Rexo1
|
UTSW |
10 |
80,380,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Rexo1
|
UTSW |
10 |
80,380,239 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1146:Rexo1
|
UTSW |
10 |
80,380,239 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1511:Rexo1
|
UTSW |
10 |
80,385,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1523:Rexo1
|
UTSW |
10 |
80,378,585 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1807:Rexo1
|
UTSW |
10 |
80,378,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1868:Rexo1
|
UTSW |
10 |
80,378,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Rexo1
|
UTSW |
10 |
80,386,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1936:Rexo1
|
UTSW |
10 |
80,386,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1957:Rexo1
|
UTSW |
10 |
80,379,200 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2084:Rexo1
|
UTSW |
10 |
80,397,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2153:Rexo1
|
UTSW |
10 |
80,379,943 (GRCm39) |
nonsense |
probably null |
|
|
R2262:Rexo1
|
UTSW |
10 |
80,385,403 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4471:Rexo1
|
UTSW |
10 |
80,378,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4472:Rexo1
|
UTSW |
10 |
80,378,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Rexo1
|
UTSW |
10 |
80,382,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4972:Rexo1
|
UTSW |
10 |
80,385,527 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6335:Rexo1
|
UTSW |
10 |
80,379,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Rexo1
|
UTSW |
10 |
80,378,845 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6615:Rexo1
|
UTSW |
10 |
80,379,848 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6949:Rexo1
|
UTSW |
10 |
80,386,470 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7807:Rexo1
|
UTSW |
10 |
80,385,970 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7840:Rexo1
|
UTSW |
10 |
80,386,572 (GRCm39) |
missense |
probably benign |
|
|
R8779:Rexo1
|
UTSW |
10 |
80,384,292 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8897:Rexo1
|
UTSW |
10 |
80,378,437 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8995:Rexo1
|
UTSW |
10 |
80,386,095 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9094:Rexo1
|
UTSW |
10 |
80,378,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9411:Rexo1
|
UTSW |
10 |
80,397,248 (GRCm39) |
missense |
|
|
|
R9438:Rexo1
|
UTSW |
10 |
80,378,848 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9524:Rexo1
|
UTSW |
10 |
80,386,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Rexo1
|
UTSW |
10 |
80,385,540 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Rexo1
|
UTSW |
10 |
80,385,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTAGTCCACATCCTCCTCTG -3'
(R):5'- AGAAGCTGCCAGCCAGTAAC -3'
Sequencing Primer
(F):5'- TCCTCTGCACACTGGCTGG -3'
(R):5'- ATCCTCTGCGACCACAGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation