Incidental Mutation 'IGL01890:Rexo1'
| ID |
179230 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rexo1
|
| Ensembl Gene |
ENSMUSG00000047417 |
| Gene Name |
REX1, RNA exonuclease 1 |
| Synonyms |
Rex1, Tceb3bp1, 2610511M11Rik, 1700021P10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.413)
|
| Stock # |
IGL01890
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80376756-80397394 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80378845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 1064
(Y1064N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000057910]
[ENSMUST00000183160]
[ENSMUST00000220326]
[ENSMUST00000219648]
|
| AlphaFold |
Q7TT28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020383
|
| SMART Domains |
Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
20 |
97 |
9.3e-29 |
PFAM |
|
Pfam:E1-E2_ATPase
|
121 |
367 |
2.2e-10 |
PFAM |
|
Pfam:HAD
|
404 |
866 |
3.7e-17 |
PFAM |
|
Pfam:Cation_ATPase
|
481 |
580 |
8.3e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
883 |
1135 |
4.2e-61 |
PFAM |
|
low complexity region
|
1140 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057910
AA Change: Y1064N
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049705
Gene: ENSMUSG00000047417
AA Change: Y1064N
| 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 |
unknown
Transcript: ENSMUST00000182260
AA Change: Y386N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219648
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
T |
12: 80,231,642 (GRCm39) |
V265E |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,480,389 (GRCm39) |
I865V |
probably benign |
Het |
| Car5a |
G |
A |
8: 122,650,349 (GRCm39) |
A182V |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,096,277 (GRCm39) |
V249A |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,418,722 (GRCm39) |
V34A |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,676,149 (GRCm39) |
|
probably benign |
Het |
| Entpd6 |
G |
A |
2: 150,612,612 (GRCm39) |
D445N |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,771,320 (GRCm39) |
I225M |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,685,996 (GRCm39) |
V424A |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpn3 |
A |
G |
5: 122,519,328 (GRCm39) |
M176V |
probably benign |
Het |
| Igkv12-38 |
C |
T |
6: 69,920,389 (GRCm39) |
C43Y |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,000,852 (GRCm39) |
|
probably null |
Het |
| Skint1 |
G |
A |
4: 111,867,878 (GRCm39) |
G2R |
probably damaging |
Het |
| Slc4a9 |
G |
A |
18: 36,662,760 (GRCm39) |
A172T |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,146 (GRCm39) |
S727P |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,862,237 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
G |
T |
19: 22,689,083 (GRCm39) |
R4L |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,786,880 (GRCm39) |
V879E |
possibly damaging |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,776 (GRCm39) |
Y131F |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r95 |
T |
A |
17: 18,671,737 (GRCm39) |
N491K |
probably damaging |
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 |
|
|
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 |
|
R7612:Rexo1
|
UTSW |
10 |
80,385,497 (GRCm39) |
missense |
probably benign |
0.40 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation