Incidental Mutation 'IGL01470:Exog'
| ID |
88253 |
| 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: 0.154)
|
| Stock # |
IGL01470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119274026-119294584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119291592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 290
(Q290K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035094]
[ENSMUST00000164213]
[ENSMUST00000214140]
[ENSMUST00000214462]
|
| AlphaFold |
Q8C163 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035094
AA Change: Q266K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: Q266K
| 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 |
probably damaging
Transcript: ENSMUST00000164213
AA Change: Q290K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: Q290K
| 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 |
probably benign
Transcript: ENSMUST00000214140
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,414 (GRCm39) |
T1184A |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,557,375 (GRCm39) |
I106T |
probably damaging |
Het |
| Asic4 |
C |
T |
1: 75,427,510 (GRCm39) |
A12V |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,821,099 (GRCm39) |
V1139D |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,616,613 (GRCm39) |
|
probably benign |
Het |
| Eif4h |
A |
T |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Fam83c |
A |
T |
2: 155,676,728 (GRCm39) |
I14K |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,021 (GRCm39) |
Y268N |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,056,281 (GRCm39) |
L1144P |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,340,944 (GRCm39) |
T1079I |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,368,980 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,404,918 (GRCm39) |
V4496A |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,261 (GRCm39) |
R729G |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,205,147 (GRCm39) |
C461* |
probably null |
Het |
| Lypd6 |
T |
C |
2: 50,078,795 (GRCm39) |
V97A |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,993,933 (GRCm39) |
E973G |
possibly damaging |
Het |
| Mep1b |
A |
T |
18: 21,230,524 (GRCm39) |
N692I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,754 (GRCm39) |
V274A |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,411,507 (GRCm39) |
I264T |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,868,162 (GRCm39) |
W300R |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,035 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,300 (GRCm39) |
H228L |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,628 (GRCm39) |
N229S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,616,903 (GRCm39) |
T392I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,702 (GRCm38) |
W248* |
probably null |
Het |
| Pzp |
T |
A |
6: 128,498,087 (GRCm39) |
E243D |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,846 (GRCm39) |
L542Q |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,144 (GRCm39) |
T229I |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 106,894,855 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,218,620 (GRCm39) |
Q373L |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,338,902 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,820,209 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,152,468 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Exog |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03013:Exog
|
APN |
9 |
119,291,679 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03399:Exog
|
APN |
9 |
119,276,017 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
2013-11-18 |
Incidental Mutation