Incidental Mutation 'R1389:Exog'
| ID |
162541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exog
|
| Ensembl Gene |
ENSMUSG00000042787 |
| Gene Name |
exo/endonuclease G |
| Synonyms |
Endogl1, ENGL-B, ENDOGL2, ENGL-a |
| MMRRC Submission |
039451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R1389 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119274026-119294584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119291572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 283
(Q283R)
|
| 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: Q259R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: Q259R
| 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: Q283R
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: Q283R
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,476,460 (GRCm39) |
T914A |
possibly damaging |
Het |
| Acsl3 |
A |
C |
1: 78,665,999 (GRCm39) |
I142L |
probably benign |
Het |
| Adgra2 |
C |
T |
8: 27,601,116 (GRCm39) |
P252L |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,186,303 (GRCm39) |
E1239G |
probably benign |
Het |
| Arhgef17 |
TGGAGGAGGAGGAGGAGG |
TGGAGGAGGAGGAGG |
7: 100,580,244 (GRCm39) |
|
probably benign |
Het |
| Calml4 |
A |
T |
9: 62,778,548 (GRCm39) |
D12V |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccar2 |
C |
A |
14: 70,377,558 (GRCm39) |
V699L |
possibly damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,226 (GRCm39) |
M88V |
unknown |
Het |
| Ceacam15 |
T |
C |
7: 16,405,988 (GRCm39) |
R188G |
probably damaging |
Het |
| Dcaf8 |
G |
A |
1: 172,001,619 (GRCm39) |
R272H |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,404,778 (GRCm39) |
V2588A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,250,313 (GRCm39) |
R1749H |
probably damaging |
Het |
| Fmnl1 |
A |
T |
11: 103,077,535 (GRCm39) |
|
probably null |
Het |
| Gramd1c |
T |
C |
16: 43,811,085 (GRCm39) |
D213G |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,409,504 (GRCm39) |
|
probably null |
Het |
| Itgae |
A |
G |
11: 73,016,188 (GRCm39) |
Y799C |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,809,173 (GRCm39) |
I903V |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 192,188,071 (GRCm39) |
E844G |
probably benign |
Het |
| Khdc1a |
A |
T |
1: 21,420,251 (GRCm39) |
D3V |
probably damaging |
Het |
| Ly6g |
T |
C |
15: 75,028,615 (GRCm39) |
F25S |
probably benign |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,456 (GRCm39) |
|
probably benign |
Het |
| Mfsd3 |
A |
G |
15: 76,586,889 (GRCm39) |
H243R |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,591,076 (GRCm39) |
Y1016N |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,078 (GRCm39) |
V219E |
probably damaging |
Het |
| Nars2 |
G |
A |
7: 96,652,036 (GRCm39) |
S209N |
probably benign |
Het |
| Nckap5 |
T |
C |
1: 125,954,447 (GRCm39) |
T702A |
probably damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,369 (GRCm39) |
N65S |
possibly damaging |
Het |
| Paf1 |
A |
G |
7: 28,098,257 (GRCm39) |
|
probably benign |
Het |
| Prl3d1 |
A |
T |
13: 27,282,693 (GRCm39) |
R145* |
probably null |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
T |
A |
3: 57,686,917 (GRCm39) |
N103K |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,973,734 (GRCm39) |
S170G |
probably benign |
Het |
| Slc46a2 |
A |
G |
4: 59,914,620 (GRCm39) |
L101P |
probably damaging |
Het |
| Tmem123 |
C |
T |
9: 7,791,107 (GRCm39) |
T136M |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,153,109 (GRCm39) |
H415L |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,100,950 (GRCm39) |
I255V |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,561,541 (GRCm39) |
V310E |
probably damaging |
Het |
| Zfp3 |
T |
A |
11: 70,663,462 (GRCm39) |
C474S |
probably damaging |
Het |
| Zfp707 |
T |
A |
15: 75,846,465 (GRCm39) |
C99S |
probably damaging |
Het |
| Zranb1 |
C |
T |
7: 132,573,062 (GRCm39) |
P410S |
probably damaging |
Het |
| Zswim8 |
G |
T |
14: 20,760,816 (GRCm39) |
R30L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCGTTTCCTGTATGGCATC -3'
(R):5'- ACAGACCGGGCTCCATCAATCTTC -3'
Sequencing Primer
(F):5'- CCTGTATGGCATCTACAGAGG -3'
(R):5'- TCCTCGTGCTCAGGTACAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation