Incidental Mutation 'IGL00979:Endov'
| ID |
28657 |
| 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 # |
IGL00979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119382173-119402263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119391444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 144
(V144A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064513]
[ENSMUST00000106244]
[ENSMUST00000106245]
[ENSMUST00000129327]
[ENSMUST00000153204]
[ENSMUST00000143817]
[ENSMUST00000154370]
|
| AlphaFold |
Q8C9A2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064513
AA Change: V61A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068849
Gene: ENSMUSG00000039850
AA Change: V61A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
160 |
5.7e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106244
AA Change: V144A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101851
Gene: ENSMUSG00000039850
AA Change: V144A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
22 |
241 |
2.8e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106245
AA Change: V61A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000132755
Gene: ENSMUSG00000039850
AA Change: V61A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
160 |
3.3e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129327
AA Change: V61A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000119599
Gene: ENSMUSG00000039850
AA Change: V61A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
160 |
3.3e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134873
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140323
AA Change: V91A
|
| SMART Domains |
Protein: ENSMUSP00000118226
Gene: ENSMUSG00000039850
AA Change: V91A
| 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 |
possibly damaging
Transcript: ENSMUST00000153204
AA Change: S48P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128455
Gene: ENSMUSG00000039850
AA Change: S48P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
43 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143817
AA Change: S112P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131108
Gene: ENSMUSG00000039850
AA Change: S112P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154370
AA Change: S48P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132873
Gene: ENSMUSG00000039850
AA Change: S48P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endonuclease_5
|
1 |
43 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143670
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,338 (GRCm39) |
K84M |
probably damaging |
Het |
| A4gnt |
T |
A |
9: 99,502,489 (GRCm39) |
Y216* |
probably null |
Het |
| Abcb1b |
A |
G |
5: 8,875,293 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
G |
A |
3: 38,506,563 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,381,584 (GRCm39) |
T89A |
probably benign |
Het |
| Ccdc15 |
C |
T |
9: 37,227,786 (GRCm39) |
S236N |
probably benign |
Het |
| Cd34 |
A |
C |
1: 194,631,816 (GRCm39) |
T151P |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 8,014,810 (GRCm39) |
V865E |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,232,304 (GRCm39) |
V537E |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,777 (GRCm39) |
F553L |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,174,743 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dsg2 |
C |
A |
18: 20,715,824 (GRCm39) |
D255E |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,232,034 (GRCm39) |
N499D |
probably damaging |
Het |
| Hephl1 |
G |
T |
9: 14,978,341 (GRCm39) |
T855K |
probably benign |
Het |
| Hif1a |
A |
G |
12: 73,988,784 (GRCm39) |
D557G |
probably damaging |
Het |
| Idh1 |
G |
A |
1: 65,210,308 (GRCm39) |
T75I |
probably damaging |
Het |
| Ighv1-37 |
A |
G |
12: 114,860,070 (GRCm39) |
S47P |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,341 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,448,081 (GRCm39) |
A1871V |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,747,105 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
T |
C |
8: 4,285,080 (GRCm39) |
L435P |
probably damaging |
Het |
| Megf11 |
T |
A |
9: 64,416,009 (GRCm39) |
Y73N |
probably damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,607 (GRCm39) |
D128G |
probably damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,614 (GRCm39) |
E21G |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,771 (GRCm39) |
M59K |
probably damaging |
Het |
| Pak6 |
C |
A |
2: 118,526,963 (GRCm39) |
L653I |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,655,074 (GRCm39) |
|
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,789,066 (GRCm39) |
V831A |
probably benign |
Het |
| Prc1 |
G |
T |
7: 79,957,444 (GRCm39) |
|
probably null |
Het |
| Ptprs |
C |
T |
17: 56,765,243 (GRCm39) |
G14S |
probably damaging |
Het |
| Pygb |
A |
G |
2: 150,661,833 (GRCm39) |
K520E |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,883,505 (GRCm39) |
S92P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,113,638 (GRCm39) |
L109Q |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,451,863 (GRCm39) |
*428W |
probably null |
Het |
| Scn8a |
A |
T |
15: 100,853,287 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,545,991 (GRCm39) |
I23V |
unknown |
Het |
| Sec61a2 |
A |
G |
2: 5,876,831 (GRCm39) |
Y350H |
possibly damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,530,891 (GRCm39) |
Q759L |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,387,378 (GRCm39) |
P1378L |
probably damaging |
Het |
| Spta1 |
T |
G |
1: 174,035,956 (GRCm39) |
Y1087* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,378,598 (GRCm39) |
E401G |
probably damaging |
Het |
| Tom1 |
C |
A |
8: 75,781,331 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,257,577 (GRCm39) |
V1273D |
probably damaging |
Het |
| Vmn2r106 |
G |
T |
17: 20,497,837 (GRCm39) |
D467E |
possibly damaging |
Het |
| Washc4 |
A |
T |
10: 83,386,747 (GRCm39) |
T124S |
probably benign |
Het |
| Zfp790 |
A |
G |
7: 29,529,034 (GRCm39) |
E573G |
probably benign |
Het |
|
| Other mutations in Endov |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Endov
|
APN |
11 |
119,382,291 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation