Incidental Mutation 'R3405:Exo1'
| ID |
259316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exo1
|
| Ensembl Gene |
ENSMUSG00000039748 |
| Gene Name |
exonuclease 1 |
| Synonyms |
5730442G03Rik, Msa |
| MMRRC Submission |
040623-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.415)
|
| Stock # |
R3405 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
175708334-175738962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 175733536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 787
(K787E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039725]
|
| AlphaFold |
Q9QZ11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039725
AA Change: K787E
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: K787E
| Domain | Start | End | E-Value | Type |
|---|
|
XPGN
|
1 |
99 |
6.24e-38 |
SMART |
|
XPGI
|
138 |
208 |
4.56e-31 |
SMART |
|
HhH2
|
212 |
245 |
2.28e-8 |
SMART |
|
Blast:XPGI
|
252 |
288 |
4e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193610
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194636
AA Change: K121E
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194816
AA Change: K80E
|
| Meta Mutation Damage Score |
0.0730 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced life span, lymphoma development, and male/female sterilty due to defective meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,459,884 (GRCm39) |
M1139K |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,039,373 (GRCm39) |
S191P |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,377,913 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
T |
2: 13,338,319 (GRCm39) |
V2350I |
probably benign |
Het |
| Dhodh |
G |
A |
8: 110,330,107 (GRCm39) |
R86* |
probably null |
Het |
| Dnhd1 |
C |
T |
7: 105,343,968 (GRCm39) |
Q1771* |
probably null |
Het |
| Dpt |
A |
C |
1: 164,624,500 (GRCm39) |
E67A |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,166,068 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
C |
12: 65,122,546 (GRCm39) |
S23P |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,194,693 (GRCm39) |
E131G |
unknown |
Het |
| Gm5612 |
A |
T |
9: 18,339,149 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
T |
G |
11: 4,374,302 (GRCm39) |
Q88P |
probably damaging |
Het |
| Immp2l |
T |
A |
12: 41,160,846 (GRCm39) |
L48* |
probably null |
Het |
| Kcne4 |
C |
T |
1: 78,795,688 (GRCm39) |
A112V |
possibly damaging |
Het |
| Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
| Lrrc30 |
A |
G |
17: 67,939,175 (GRCm39) |
L135P |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,213,103 (GRCm39) |
V486D |
probably damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,847 (GRCm39) |
V131F |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,475,668 (GRCm39) |
F809Y |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
| Mlst8 |
A |
T |
17: 24,697,099 (GRCm39) |
M56K |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,310 (GRCm39) |
Y160C |
probably damaging |
Het |
| Mslnl |
A |
G |
17: 25,965,155 (GRCm39) |
Y507C |
probably damaging |
Het |
| Myl12a |
A |
T |
17: 71,301,737 (GRCm39) |
M130K |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,658,770 (GRCm39) |
F396L |
probably damaging |
Het |
| Nalf2 |
A |
G |
X: 98,889,109 (GRCm39) |
I325V |
probably benign |
Het |
| Ncf2 |
A |
G |
1: 152,701,698 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,084,707 (GRCm39) |
I291F |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,224,569 (GRCm39) |
Y777* |
probably null |
Het |
| Ogdh |
T |
C |
11: 6,299,462 (GRCm39) |
V776A |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Plg |
G |
T |
17: 12,622,096 (GRCm39) |
S472I |
possibly damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,191 (GRCm39) |
T397A |
probably benign |
Het |
| Rbfox3 |
T |
A |
11: 118,387,283 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 56,008,640 (GRCm39) |
W1007R |
probably damaging |
Het |
| Stap2 |
A |
T |
17: 56,304,511 (GRCm39) |
W374R |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,251,217 (GRCm39) |
V297A |
probably benign |
Het |
| Thada |
A |
T |
17: 84,538,213 (GRCm39) |
|
probably benign |
Het |
| Ticrr |
G |
C |
7: 79,344,539 (GRCm39) |
S1468T |
probably benign |
Het |
| Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa8 |
T |
A |
14: 79,401,660 (GRCm39) |
|
probably benign |
Het |
| Zfp609 |
A |
T |
9: 65,608,454 (GRCm39) |
M1142K |
possibly damaging |
Het |
|
| Other mutations in Exo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Exo1
|
APN |
1 |
175,723,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01116:Exo1
|
APN |
1 |
175,728,963 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01766:Exo1
|
APN |
1 |
175,719,587 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02117:Exo1
|
APN |
1 |
175,721,309 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02979:Exo1
|
APN |
1 |
175,726,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03026:Exo1
|
APN |
1 |
175,736,003 (GRCm39) |
makesense |
probably null |
|
|
IGL03109:Exo1
|
APN |
1 |
175,727,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03208:Exo1
|
APN |
1 |
175,723,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03342:Exo1
|
APN |
1 |
175,719,693 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03147:Exo1
|
UTSW |
1 |
175,716,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Exo1
|
UTSW |
1 |
175,719,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Exo1
|
UTSW |
1 |
175,733,519 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0520:Exo1
|
UTSW |
1 |
175,727,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1382:Exo1
|
UTSW |
1 |
175,721,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1618:Exo1
|
UTSW |
1 |
175,728,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Exo1
|
UTSW |
1 |
175,736,052 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2007:Exo1
|
UTSW |
1 |
175,736,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2177:Exo1
|
UTSW |
1 |
175,710,456 (GRCm39) |
splice site |
probably null |
|
|
R2224:Exo1
|
UTSW |
1 |
175,714,254 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2305:Exo1
|
UTSW |
1 |
175,716,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Exo1
|
UTSW |
1 |
175,733,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3406:Exo1
|
UTSW |
1 |
175,733,536 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3711:Exo1
|
UTSW |
1 |
175,721,395 (GRCm39) |
missense |
probably benign |
|
|
R3767:Exo1
|
UTSW |
1 |
175,714,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Exo1
|
UTSW |
1 |
175,727,035 (GRCm39) |
missense |
probably benign |
|
|
R3853:Exo1
|
UTSW |
1 |
175,720,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5304:Exo1
|
UTSW |
1 |
175,720,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Exo1
|
UTSW |
1 |
175,721,380 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5869:Exo1
|
UTSW |
1 |
175,728,849 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7013:Exo1
|
UTSW |
1 |
175,721,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Exo1
|
UTSW |
1 |
175,716,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Exo1
|
UTSW |
1 |
175,734,232 (GRCm39) |
splice site |
probably null |
|
|
R7522:Exo1
|
UTSW |
1 |
175,728,870 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7895:Exo1
|
UTSW |
1 |
175,728,562 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8218:Exo1
|
UTSW |
1 |
175,728,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8751:Exo1
|
UTSW |
1 |
175,719,678 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8995:Exo1
|
UTSW |
1 |
175,736,127 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9169:Exo1
|
UTSW |
1 |
175,715,203 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9732:Exo1
|
UTSW |
1 |
175,727,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTCAGGTTCCTGGGCTC -3'
(R):5'- TGTTAGGTCGCCAGTCAGTG -3'
Sequencing Primer
(F):5'- CTCTGTAGGTCTAGTTCTATGGACTC -3'
(R):5'- CAGTCAGTGGAGCACAGTTTAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation