Incidental Mutation 'IGL03399:Exog'
| ID |
421350 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exog
|
| Ensembl Gene |
ENSMUSG00000042787 |
| Gene Name |
exo/endonuclease G |
| Synonyms |
Endogl1, ENGL-B, ENDOGL2, ENGL-a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
IGL03399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119274026-119294584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 119276017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 56
(S56A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035094]
[ENSMUST00000164213]
[ENSMUST00000214140]
[ENSMUST00000214462]
|
| AlphaFold |
Q8C163 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035094
AA Change: S56A
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: S56A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Endonuclease_NS
|
1 |
53 |
1e-5 |
BLAST |
|
Endonuclease_NS
|
76 |
287 |
2.01e-74 |
SMART |
|
NUC
|
77 |
287 |
2.25e-103 |
SMART |
|
low complexity region
|
348 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164213
AA Change: S80A
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: S80A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
Endonuclease_NS
|
100 |
311 |
2.01e-74 |
SMART |
|
NUC
|
101 |
311 |
2.25e-103 |
SMART |
|
low complexity region
|
372 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181600
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214140
AA Change: S56A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215819
|
| 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 an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
C |
T |
2: 150,479,798 (GRCm39) |
G303D |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,454,728 (GRCm39) |
Y515F |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,821,088 (GRCm39) |
L412Q |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,901,368 (GRCm39) |
I1144T |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,073,208 (GRCm39) |
N770I |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,956 (GRCm39) |
N671D |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,108,426 (GRCm39) |
D823G |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,511,024 (GRCm39) |
D367G |
probably damaging |
Het |
| Hap1 |
C |
A |
11: 100,245,093 (GRCm39) |
M39I |
possibly damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,829,625 (GRCm39) |
H192Q |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,716,638 (GRCm39) |
L622Q |
probably null |
Het |
| Kars1 |
G |
T |
8: 112,734,926 (GRCm39) |
A20E |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,431,771 (GRCm39) |
D197G |
probably damaging |
Het |
| Mapk9 |
T |
A |
11: 49,774,126 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,545,426 (GRCm39) |
D1367E |
probably damaging |
Het |
| Oaz1 |
G |
A |
10: 80,664,176 (GRCm39) |
S84N |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,296,314 (GRCm39) |
R507G |
possibly damaging |
Het |
| Or1j16 |
T |
G |
2: 36,530,894 (GRCm39) |
V281G |
possibly damaging |
Het |
| Or5p6 |
A |
G |
7: 107,630,789 (GRCm39) |
F254L |
probably benign |
Het |
| Or8g24 |
A |
T |
9: 38,989,533 (GRCm39) |
C169* |
probably null |
Het |
| Pclo |
T |
A |
5: 14,816,745 (GRCm39) |
D4540E |
unknown |
Het |
| Ppp6r1 |
A |
G |
7: 4,646,251 (GRCm39) |
V150A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,658 (GRCm39) |
D544G |
probably benign |
Het |
| Rab27b |
A |
G |
18: 70,120,067 (GRCm39) |
I128T |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,827,869 (GRCm39) |
E26K |
probably benign |
Het |
| Slc25a1 |
G |
T |
16: 17,743,684 (GRCm39) |
T195K |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,459,915 (GRCm39) |
N479D |
probably benign |
Het |
| Thsd7b |
G |
T |
1: 129,556,622 (GRCm39) |
W326L |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,797,042 (GRCm39) |
D60G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,615,625 (GRCm39) |
R14984H |
probably damaging |
Het |
| Uba2 |
G |
A |
7: 33,843,939 (GRCm39) |
T12I |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,578,220 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
A |
G |
19: 55,487,703 (GRCm39) |
K183R |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,956,915 (GRCm39) |
V399A |
probably benign |
Het |
|
| Other mutations in Exog |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01470:Exog
|
APN |
9 |
119,291,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03013:Exog
|
APN |
9 |
119,291,679 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0014:Exog
|
UTSW |
9 |
119,281,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0102:Exog
|
UTSW |
9 |
119,281,319 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0102:Exog
|
UTSW |
9 |
119,281,319 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0508:Exog
|
UTSW |
9 |
119,277,444 (GRCm39) |
splice site |
probably benign |
|
|
R0754:Exog
|
UTSW |
9 |
119,291,572 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1389:Exog
|
UTSW |
9 |
119,291,572 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1552:Exog
|
UTSW |
9 |
119,274,176 (GRCm39) |
missense |
unknown |
|
|
R1777:Exog
|
UTSW |
9 |
119,278,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Exog
|
UTSW |
9 |
119,281,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3085:Exog
|
UTSW |
9 |
119,291,518 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3799:Exog
|
UTSW |
9 |
119,278,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Exog
|
UTSW |
9 |
119,291,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7310:Exog
|
UTSW |
9 |
119,274,069 (GRCm39) |
missense |
unknown |
|
|
R7320:Exog
|
UTSW |
9 |
119,291,544 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8528:Exog
|
UTSW |
9 |
119,291,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Exog
|
UTSW |
9 |
119,276,108 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9326:Exog
|
UTSW |
9 |
119,291,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9662:Exog
|
UTSW |
9 |
119,281,376 (GRCm39) |
missense |
probably benign |
|
|
R9733:Exog
|
UTSW |
9 |
119,291,586 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Exog
|
UTSW |
9 |
119,277,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Exog
|
UTSW |
9 |
119,274,146 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation