Incidental Mutation 'IGL01541:Topors'
| ID |
90154 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Topors
|
| Ensembl Gene |
ENSMUSG00000036822 |
| Gene Name |
topoisomerase I binding, arginine/serine-rich |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.614)
|
| Stock # |
IGL01541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
40259601-40269850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40262364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 307
(T307A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042575]
|
| AlphaFold |
Q80Z37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042575
AA Change: T307A
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: T307A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
44 |
N/A |
INTRINSIC |
|
RING
|
104 |
142 |
7.27e-7 |
SMART |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
894 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,762,205 (GRCm39) |
S505G |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,985,243 (GRCm39) |
H2176Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,572 (GRCm39) |
D2544Y |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,350,283 (GRCm39) |
F88L |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,723 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,708,907 (GRCm39) |
V1251A |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,129,955 (GRCm39) |
F273I |
possibly damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,965 (GRCm39) |
C104R |
probably damaging |
Het |
| Ercc3 |
A |
T |
18: 32,381,372 (GRCm39) |
D396V |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,940,014 (GRCm39) |
D556V |
probably damaging |
Het |
| Frg1 |
C |
T |
8: 41,863,362 (GRCm39) |
|
probably benign |
Het |
| Fto |
T |
C |
8: 92,136,376 (GRCm39) |
Y217H |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,896,606 (GRCm39) |
Y12* |
probably null |
Het |
| Grin3a |
A |
T |
4: 49,792,533 (GRCm39) |
V400E |
probably damaging |
Het |
| Gtse1 |
T |
A |
15: 85,759,855 (GRCm39) |
L682* |
probably null |
Het |
| Igkv6-32 |
A |
G |
6: 70,051,290 (GRCm39) |
I22T |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,215,905 (GRCm39) |
C35R |
probably damaging |
Het |
| Lzts3 |
A |
T |
2: 130,478,126 (GRCm39) |
L324Q |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,236,069 (GRCm39) |
R453* |
probably null |
Het |
| Naa35 |
T |
A |
13: 59,748,777 (GRCm39) |
H132Q |
probably damaging |
Het |
| Pgm5 |
C |
A |
19: 24,793,777 (GRCm39) |
G296W |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,805,272 (GRCm39) |
C3275S |
probably damaging |
Het |
| Podxl2 |
A |
G |
6: 88,826,331 (GRCm39) |
L325P |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,371,050 (GRCm39) |
|
probably null |
Het |
| Rab12 |
T |
C |
17: 66,804,404 (GRCm39) |
S185G |
probably damaging |
Het |
| Rnf43 |
T |
G |
11: 87,621,046 (GRCm39) |
M313R |
probably null |
Het |
| Rusc2 |
T |
C |
4: 43,415,840 (GRCm39) |
V382A |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,516,618 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,816,770 (GRCm39) |
I10T |
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,205,033 (GRCm39) |
F304S |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,044,725 (GRCm39) |
V1454I |
probably benign |
Het |
| Tdrd7 |
A |
T |
4: 46,018,551 (GRCm39) |
I722F |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,807,502 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,778 (GRCm39) |
M169I |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,257 (GRCm39) |
S789G |
unknown |
Het |
| Zfp629 |
G |
T |
7: 127,211,917 (GRCm39) |
|
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,230,156 (GRCm39) |
R123I |
probably benign |
Het |
|
| Other mutations in Topors |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01450:Topors
|
APN |
4 |
40,262,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02093:Topors
|
APN |
4 |
40,261,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0039:Topors
|
UTSW |
4 |
40,262,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Topors
|
UTSW |
4 |
40,261,952 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0645:Topors
|
UTSW |
4 |
40,260,333 (GRCm39) |
missense |
unknown |
|
|
R1413:Topors
|
UTSW |
4 |
40,261,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1507:Topors
|
UTSW |
4 |
40,261,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1677:Topors
|
UTSW |
4 |
40,261,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1863:Topors
|
UTSW |
4 |
40,262,149 (GRCm39) |
nonsense |
probably null |
|
|
R1960:Topors
|
UTSW |
4 |
40,261,044 (GRCm39) |
missense |
unknown |
|
|
R2035:Topors
|
UTSW |
4 |
40,262,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Topors
|
UTSW |
4 |
40,262,790 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2519:Topors
|
UTSW |
4 |
40,261,714 (GRCm39) |
nonsense |
probably null |
|
|
R3035:Topors
|
UTSW |
4 |
40,269,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3037:Topors
|
UTSW |
4 |
40,269,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3842:Topors
|
UTSW |
4 |
40,262,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4090:Topors
|
UTSW |
4 |
40,260,794 (GRCm39) |
missense |
unknown |
|
|
R4668:Topors
|
UTSW |
4 |
40,262,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4686:Topors
|
UTSW |
4 |
40,261,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4694:Topors
|
UTSW |
4 |
40,261,442 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4749:Topors
|
UTSW |
4 |
40,261,015 (GRCm39) |
missense |
unknown |
|
|
R5228:Topors
|
UTSW |
4 |
40,262,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Topors
|
UTSW |
4 |
40,262,541 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5725:Topors
|
UTSW |
4 |
40,261,952 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6617:Topors
|
UTSW |
4 |
40,261,896 (GRCm39) |
nonsense |
probably null |
|
|
R6699:Topors
|
UTSW |
4 |
40,262,300 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6869:Topors
|
UTSW |
4 |
40,261,201 (GRCm39) |
missense |
unknown |
|
|
R7103:Topors
|
UTSW |
4 |
40,261,706 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7319:Topors
|
UTSW |
4 |
40,260,540 (GRCm39) |
missense |
unknown |
|
|
R7543:Topors
|
UTSW |
4 |
40,268,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7545:Topors
|
UTSW |
4 |
40,262,173 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7559:Topors
|
UTSW |
4 |
40,261,401 (GRCm39) |
missense |
unknown |
|
|
R7748:Topors
|
UTSW |
4 |
40,262,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Topors
|
UTSW |
4 |
40,260,356 (GRCm39) |
missense |
unknown |
|
|
R8045:Topors
|
UTSW |
4 |
40,261,988 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8056:Topors
|
UTSW |
4 |
40,262,221 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8221:Topors
|
UTSW |
4 |
40,260,686 (GRCm39) |
missense |
unknown |
|
|
R8846:Topors
|
UTSW |
4 |
40,262,952 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9001:Topors
|
UTSW |
4 |
40,261,696 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9582:Topors
|
UTSW |
4 |
40,260,460 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation