Incidental Mutation 'R3799:Exog'
| ID |
272887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exog
|
| Ensembl Gene |
ENSMUSG00000042787 |
| Gene Name |
exo/endonuclease G |
| Synonyms |
Endogl1, ENGL-B, ENDOGL2, ENGL-a |
| MMRRC Submission |
040877-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R3799 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119274026-119294584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 119278876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 186
(N186K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035094]
[ENSMUST00000164213]
[ENSMUST00000214140]
[ENSMUST00000214462]
|
| AlphaFold |
Q8C163 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035094
AA Change: N162K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: N162K
| 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: N186K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: N186K
| 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 |
probably benign
Transcript: ENSMUST00000214140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215819
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (35/36) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,660,863 (GRCm39) |
T140A |
probably damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Ccna1 |
G |
T |
3: 54,958,040 (GRCm39) |
T155K |
probably benign |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,492,880 (GRCm39) |
W1214R |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,143 (GRCm39) |
V720A |
probably benign |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,443,738 (GRCm39) |
V587M |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,980,745 (GRCm39) |
N615S |
possibly damaging |
Het |
| Gm5799 |
G |
A |
14: 43,781,150 (GRCm39) |
G17E |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Mastl |
T |
C |
2: 23,030,504 (GRCm39) |
|
probably benign |
Het |
| Mogat1 |
A |
G |
1: 78,505,775 (GRCm39) |
I216V |
probably benign |
Het |
| Nans |
A |
G |
4: 46,492,839 (GRCm39) |
E89G |
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,857,087 (GRCm39) |
M396K |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,924,694 (GRCm39) |
F236S |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,883 (GRCm39) |
E145G |
probably damaging |
Het |
| Paqr3 |
T |
C |
5: 97,259,175 (GRCm39) |
N43S |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,200,388 (GRCm39) |
N309S |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,705,915 (GRCm39) |
Y1869C |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,574,014 (GRCm39) |
E66G |
probably damaging |
Het |
| Tdpoz8 |
A |
T |
3: 92,981,393 (GRCm39) |
D137V |
probably damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,963,488 (GRCm39) |
N578S |
possibly damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,830,143 (GRCm39) |
L3I |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,875,244 (GRCm39) |
T578A |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,302,336 (GRCm39) |
F1002I |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Zfp518a |
G |
T |
19: 40,903,754 (GRCm39) |
V1228F |
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 |
|
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'- AGGCGTTACTCTGCATAACC -3'
(R):5'- TGTCTCTCAAACACAGCAGAG -3'
Sequencing Primer
(F):5'- GCATAACCATAGTTTTCTGCCTTGGG -3'
(R):5'- CAGCAGAGACAGCAGCGTTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation