Incidental Mutation 'IGL00514:Endov'
| ID |
6000 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Endov
|
| Ensembl Gene |
ENSMUSG00000039850 |
| Gene Name |
endonuclease V |
| Synonyms |
A730011L01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL00514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119382173-119402263 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 119382291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093902]
[ENSMUST00000106244]
[ENSMUST00000106245]
[ENSMUST00000129327]
[ENSMUST00000131035]
[ENSMUST00000143817]
[ENSMUST00000153204]
[ENSMUST00000154370]
[ENSMUST00000172235]
|
| AlphaFold |
Q8C9A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093902
|
| SMART Domains |
Protein: ENSMUSP00000091429
Gene: ENSMUSG00000070327
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
688 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1546 |
1558 |
N/A |
INTRINSIC |
|
AAA
|
2373 |
2515 |
2.82e-2 |
SMART |
|
AAA
|
2722 |
2890 |
3.63e-1 |
SMART |
|
low complexity region
|
3449 |
3459 |
N/A |
INTRINSIC |
|
RING
|
3947 |
3985 |
8.69e-5 |
SMART |
|
Blast:PP2Ac
|
4544 |
4722 |
3e-66 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106244
|
| SMART Domains |
Protein: ENSMUSP00000101851
Gene: ENSMUSG00000039850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
22 |
241 |
2.8e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106245
|
| SMART Domains |
Protein: ENSMUSP00000132755
Gene: ENSMUSG00000039850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
160 |
3.3e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129327
|
| SMART Domains |
Protein: ENSMUSP00000119599
Gene: ENSMUSG00000039850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
160 |
3.3e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131035
|
| SMART Domains |
Protein: ENSMUSP00000115063
Gene: ENSMUSG00000070327
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
688 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1545 |
1557 |
N/A |
INTRINSIC |
|
AAA
|
2372 |
2514 |
2.82e-2 |
SMART |
|
AAA
|
2721 |
2889 |
3.63e-1 |
SMART |
|
low complexity region
|
3448 |
3458 |
N/A |
INTRINSIC |
|
RING
|
3946 |
3984 |
8.69e-5 |
SMART |
|
Blast:PP2Ac
|
4542 |
4720 |
3e-66 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134873
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140323
|
| SMART Domains |
Protein: ENSMUSP00000118226
Gene: ENSMUSG00000039850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
15 |
71 |
9e-9 |
PFAM |
|
Pfam:Endonuclease_5
|
69 |
189 |
3.1e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143817
|
| SMART Domains |
Protein: ENSMUSP00000131108
Gene: ENSMUSG00000039850
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153204
|
| SMART Domains |
Protein: ENSMUSP00000128455
Gene: ENSMUSG00000039850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
43 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208034
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154370
|
| SMART Domains |
Protein: ENSMUSP00000132873
Gene: ENSMUSG00000039850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
43 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172235
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,432,141 (GRCm39) |
E75G |
unknown |
Het |
| Ank3 |
T |
C |
10: 69,818,035 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
G |
6: 87,645,390 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,792,821 (GRCm39) |
F436I |
probably benign |
Het |
| Blmh |
A |
G |
11: 76,857,839 (GRCm39) |
D327G |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,628,752 (GRCm39) |
H310Q |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,576,013 (GRCm39) |
K110E |
unknown |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,939 (GRCm39) |
D293G |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,638,985 (GRCm39) |
K480* |
probably null |
Het |
| Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
| Ehd4 |
G |
A |
2: 119,921,694 (GRCm39) |
P521S |
probably damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,769,441 (GRCm39) |
T648P |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,513,922 (GRCm39) |
Y329C |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,929,590 (GRCm39) |
S1308T |
probably benign |
Het |
| Mill1 |
A |
T |
7: 17,998,566 (GRCm39) |
T259S |
possibly damaging |
Het |
| Ms4a4c |
C |
T |
19: 11,396,400 (GRCm39) |
A111V |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,110,610 (GRCm39) |
R1507M |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,256,384 (GRCm39) |
D210N |
probably benign |
Het |
| Neo1 |
G |
T |
9: 58,829,202 (GRCm39) |
|
probably benign |
Het |
| Nipsnap2 |
A |
G |
5: 129,831,915 (GRCm39) |
D236G |
probably damaging |
Het |
| Plekhh2 |
G |
T |
17: 84,903,734 (GRCm39) |
|
probably null |
Het |
| Prox2 |
A |
T |
12: 85,141,552 (GRCm39) |
M217K |
probably benign |
Het |
| Rgl2 |
G |
A |
17: 34,152,110 (GRCm39) |
G299E |
probably benign |
Het |
| Rragb |
T |
G |
X: 151,954,294 (GRCm39) |
C370W |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,393,945 (GRCm39) |
N209K |
probably damaging |
Het |
| Sec61g |
A |
T |
11: 16,451,817 (GRCm39) |
|
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,567,105 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
T |
11: 60,669,193 (GRCm39) |
K114* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,298,397 (GRCm39) |
L730P |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,190,280 (GRCm39) |
L183P |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,388,155 (GRCm39) |
C637S |
probably benign |
Het |
| Tmem30c |
A |
T |
16: 57,090,437 (GRCm39) |
Y257N |
probably damaging |
Het |
| Trpm3 |
C |
T |
19: 22,965,023 (GRCm39) |
T1506M |
probably benign |
Het |
| Yes1 |
A |
C |
5: 32,812,473 (GRCm39) |
K248Q |
probably benign |
Het |
| Zfp638 |
A |
T |
6: 83,933,680 (GRCm39) |
K811N |
probably damaging |
Het |
|
| Other mutations in Endov |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Endov
|
APN |
11 |
119,391,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02293:Endov
|
APN |
11 |
119,395,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0414:Endov
|
UTSW |
11 |
119,390,397 (GRCm39) |
nonsense |
probably null |
|
|
R1452:Endov
|
UTSW |
11 |
119,382,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Endov
|
UTSW |
11 |
119,393,177 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2062:Endov
|
UTSW |
11 |
119,390,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Endov
|
UTSW |
11 |
119,390,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Endov
|
UTSW |
11 |
119,390,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Endov
|
UTSW |
11 |
119,390,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Endov
|
UTSW |
11 |
119,393,186 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5579:Endov
|
UTSW |
11 |
119,395,923 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5696:Endov
|
UTSW |
11 |
119,382,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Endov
|
UTSW |
11 |
119,390,675 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7311:Endov
|
UTSW |
11 |
119,398,077 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7580:Endov
|
UTSW |
11 |
119,390,692 (GRCm39) |
intron |
probably benign |
|
|
R8108:Endov
|
UTSW |
11 |
119,398,237 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8379:Endov
|
UTSW |
11 |
119,382,723 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8690:Endov
|
UTSW |
11 |
119,382,736 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8795:Endov
|
UTSW |
11 |
119,390,380 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9696:Endov
|
UTSW |
11 |
119,398,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-04-20 |
Incidental Mutation