Incidental Mutation 'R5625:Exo1'
| ID |
441768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exo1
|
| Ensembl Gene |
ENSMUSG00000039748 |
| Gene Name |
exonuclease 1 |
| Synonyms |
5730442G03Rik, Msa |
| MMRRC Submission |
043164-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R5625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
175708334-175738962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 175721380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 340
(D340Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039725]
[ENSMUST00000193822]
[ENSMUST00000193858]
[ENSMUST00000194306]
|
| AlphaFold |
Q9QZ11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039725
AA Change: D340Y
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: D340Y
| 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 |
probably benign
Transcript: ENSMUST00000191680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193822
|
| SMART Domains |
Protein: ENSMUSP00000141624
Gene: ENSMUSG00000039748
| Domain | Start | End | E-Value | Type |
|---|
|
XPGN
|
1 |
83 |
3.5e-11 |
SMART |
|
XPGI
|
98 |
168 |
1.4e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193858
|
| SMART Domains |
Protein: ENSMUSP00000141568
Gene: ENSMUSG00000039748
| Domain | Start | End | E-Value | Type |
|---|
|
XPGN
|
1 |
83 |
3.5e-11 |
SMART |
|
XPGI
|
98 |
168 |
1.4e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194306
|
| SMART Domains |
Protein: ENSMUSP00000141770
Gene: ENSMUSG00000039748
| Domain | Start | End | E-Value | Type |
|---|
|
XPGN
|
1 |
99 |
2e-40 |
SMART |
|
XPGI
|
138 |
208 |
1.4e-33 |
SMART |
|
| Meta Mutation Damage Score |
0.1636 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
G |
9: 44,189,333 (GRCm39) |
D388A |
probably benign |
Het |
| Ampd3 |
A |
C |
7: 110,401,730 (GRCm39) |
E408A |
probably damaging |
Het |
| Bmp1 |
G |
T |
14: 70,723,606 (GRCm39) |
N743K |
probably benign |
Het |
| Brsk1 |
A |
G |
7: 4,709,399 (GRCm39) |
K398E |
probably damaging |
Het |
| Ccdc157 |
A |
T |
11: 4,101,888 (GRCm39) |
M11K |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,252,187 (GRCm39) |
M394R |
probably damaging |
Het |
| Cfap44 |
G |
T |
16: 44,280,710 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
C |
T |
10: 61,679,388 (GRCm39) |
G713R |
unknown |
Het |
| Cxcr2 |
A |
T |
1: 74,197,991 (GRCm39) |
K162* |
probably null |
Het |
| Cyp3a44 |
C |
T |
5: 145,716,376 (GRCm39) |
D405N |
possibly damaging |
Het |
| Farp2 |
T |
G |
1: 93,456,470 (GRCm39) |
L51R |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,943,083 (GRCm39) |
I659F |
possibly damaging |
Het |
| Gbp2b |
T |
A |
3: 142,304,806 (GRCm39) |
W81R |
probably damaging |
Het |
| Gipc2 |
C |
T |
3: 151,871,541 (GRCm39) |
|
probably benign |
Het |
| Gm10941 |
G |
T |
10: 77,094,670 (GRCm39) |
|
probably benign |
Het |
| Gm1988 |
A |
T |
7: 38,823,229 (GRCm39) |
|
noncoding transcript |
Het |
| Hapln3 |
G |
T |
7: 78,767,006 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
A |
G |
1: 173,396,629 (GRCm39) |
S482P |
possibly damaging |
Het |
| Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
| Lrrn1 |
T |
A |
6: 107,544,315 (GRCm39) |
C38S |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,396,519 (GRCm39) |
E107G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,067,547 (GRCm39) |
L5848* |
probably null |
Het |
| Nrg3 |
A |
T |
14: 38,092,950 (GRCm39) |
M545K |
probably damaging |
Het |
| Nudt3 |
A |
G |
17: 27,802,202 (GRCm39) |
L28P |
probably damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,099 (GRCm39) |
M308L |
probably benign |
Het |
| Otop1 |
A |
T |
5: 38,460,104 (GRCm39) |
Y557F |
probably damaging |
Het |
| Pcare |
T |
A |
17: 72,058,321 (GRCm39) |
D452V |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,349,998 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
A |
G |
3: 94,891,988 (GRCm39) |
M223V |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,209,699 (GRCm39) |
T2335A |
probably benign |
Het |
| Ppp6c |
A |
G |
2: 39,087,453 (GRCm39) |
V251A |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 31,742,162 (GRCm39) |
E21K |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,530,691 (GRCm39) |
E521G |
probably null |
Het |
| Rasl10b |
G |
T |
11: 83,309,640 (GRCm39) |
R199L |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,496,203 (GRCm39) |
R111C |
probably damaging |
Het |
| Sec23ip |
G |
T |
7: 128,346,707 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,910,273 (GRCm39) |
|
noncoding transcript |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,141,886 (GRCm39) |
S6141P |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
| Tex46 |
T |
C |
4: 136,337,925 (GRCm39) |
F39S |
probably damaging |
Het |
| Tmem50a |
AACCA |
AA |
4: 134,625,778 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
G |
T |
2: 120,820,874 (GRCm39) |
W180L |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,904,185 (GRCm39) |
A1232T |
probably benign |
Het |
| Tubgcp3 |
T |
C |
8: 12,674,888 (GRCm39) |
H744R |
possibly damaging |
Het |
| Uggt2 |
A |
G |
14: 119,315,136 (GRCm39) |
I311T |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,584,197 (GRCm39) |
R469C |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,281 (GRCm39) |
L278S |
probably damaging |
Het |
| Vmn2r129 |
A |
T |
4: 156,686,505 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,420,766 (GRCm39) |
T376A |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,077 (GRCm39) |
A188V |
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 |
|
R3405:Exo1
|
UTSW |
1 |
175,733,536 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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'- TGGGGTCTATGTACATGATGAACC -3'
(R):5'- TGCCAAGTGCCAAAGTCTG -3'
Sequencing Primer
(F):5'- CTATGTACATGATGAACCTTGAAGG -3'
(R):5'- GGCCATCTTGGTCTACACAATGAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation