Incidental Mutation 'R9662:Exog'
ID |
727633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Exog
|
Ensembl Gene |
ENSMUSG00000042787 |
Gene Name |
exo/endonuclease G |
Synonyms |
Endogl1, ENGL-B, ENDOGL2, ENGL-a |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R9662 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
119274026-119294584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119281376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 229
(R229G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035094]
[ENSMUST00000164213]
[ENSMUST00000214140]
[ENSMUST00000214462]
|
AlphaFold |
Q8C163 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035094
AA Change: R205G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035094 Gene: ENSMUSG00000042787 AA Change: R205G
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 benign
Transcript: ENSMUST00000164213
AA Change: R229G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129273 Gene: ENSMUSG00000042787 AA Change: R229G
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
T |
A |
6: 34,809,468 (GRCm39) |
Y698* |
probably null |
Het |
Arhgef28 |
C |
A |
13: 98,065,969 (GRCm39) |
G1628V |
probably benign |
Het |
Bcr |
T |
C |
10: 75,011,152 (GRCm39) |
V1018A |
probably benign |
Het |
Cadps |
T |
A |
14: 12,411,567 (GRCm38) |
E1263V |
probably benign |
Het |
Cdc14a |
T |
A |
3: 116,088,484 (GRCm39) |
K446M |
probably damaging |
Het |
Celf6 |
C |
T |
9: 59,485,668 (GRCm39) |
A3V |
unknown |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Col1a1 |
A |
G |
11: 94,836,667 (GRCm39) |
S709G |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,925,166 (GRCm39) |
L3889H |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,343,763 (GRCm39) |
T2849A |
probably benign |
Het |
Fnbp1 |
T |
A |
2: 30,986,042 (GRCm39) |
K114N |
probably damaging |
Het |
Gm21149 |
A |
T |
5: 15,681,357 (GRCm39) |
N35K |
probably damaging |
Het |
Gm7324 |
A |
T |
14: 43,952,434 (GRCm39) |
D359V |
unknown |
Het |
Grin3a |
A |
T |
4: 49,792,432 (GRCm39) |
S434T |
possibly damaging |
Het |
H2-Q6 |
C |
T |
17: 35,644,185 (GRCm39) |
R56C |
probably damaging |
Het |
Hmgcll1 |
A |
T |
9: 75,922,397 (GRCm39) |
Y14F |
probably benign |
Het |
Kcna6 |
T |
G |
6: 126,715,380 (GRCm39) |
E503A |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,731,428 (GRCm39) |
V2963A |
unknown |
Het |
Ltk |
G |
T |
2: 119,582,330 (GRCm39) |
S807* |
probably null |
Het |
Mars1 |
A |
G |
10: 127,136,349 (GRCm39) |
L492P |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Myo7a |
T |
A |
7: 97,747,499 (GRCm39) |
Y111F |
possibly damaging |
Het |
Ndst3 |
T |
A |
3: 123,465,115 (GRCm39) |
I286L |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Parg |
T |
C |
14: 31,971,976 (GRCm39) |
L657S |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,174,054 (GRCm39) |
T356A |
probably benign |
Het |
Ppp3ca |
T |
C |
3: 136,583,501 (GRCm39) |
S203P |
probably damaging |
Het |
Raver1 |
C |
T |
9: 20,992,550 (GRCm39) |
R293H |
probably benign |
Het |
Robo2 |
C |
T |
16: 73,758,566 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
G |
A |
5: 113,427,097 (GRCm39) |
P398L |
probably benign |
Het |
Slc6a19 |
A |
T |
13: 73,839,822 (GRCm39) |
C153* |
probably null |
Het |
Tbx1 |
T |
C |
16: 18,400,882 (GRCm39) |
H434R |
unknown |
Het |
Tmem151a |
C |
A |
19: 5,132,717 (GRCm39) |
R163L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,671,604 (GRCm39) |
V11320A |
unknown |
Het |
Zfp207 |
G |
A |
11: 80,286,029 (GRCm39) |
M423I |
unknown |
Het |
Zfp251 |
A |
T |
15: 76,737,520 (GRCm39) |
H524Q |
possibly damaging |
Het |
Zfp318 |
C |
T |
17: 46,724,383 (GRCm39) |
R2129W |
probably damaging |
Het |
Zfp763 |
T |
A |
17: 33,240,787 (GRCm39) |
D14V |
probably damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTCATTCAAGAGTCTTTCCTAGGG -3'
(R):5'- AGTCTTCAACACAGCTGGGTG -3'
Sequencing Primer
(F):5'- CAAGAGTCTTTCCTAGGGACTGG -3'
(R):5'- GGTGAGTGCCTCCCTTTAACTG -3'
|
Posted On |
2022-10-06 |