Incidental Mutation 'R2401:Exo5'
| ID |
248679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exo5
|
| Ensembl Gene |
ENSMUSG00000028629 |
| Gene Name |
exonuclease 5 |
| Synonyms |
Dem1, 3110037I16Rik |
| MMRRC Submission |
040367-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120778399-120782202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120779194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 224
(I224V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030375]
[ENSMUST00000144114]
[ENSMUST00000156836]
[ENSMUST00000177880]
|
| AlphaFold |
Q9CXP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030375
AA Change: I224V
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030375
Gene: ENSMUSG00000028629
AA Change: I224V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Exo5
|
71 |
355 |
1.3e-82 |
PFAM |
|
Pfam:PDDEXK_1
|
92 |
353 |
2.4e-6 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144114
AA Change: I10V
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116454
Gene: ENSMUSG00000028629
AA Change: I10V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo5
|
1 |
141 |
2.8e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156836
|
| SMART Domains |
Protein: ENSMUSP00000118041
Gene: ENSMUSG00000028629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Exo5
|
71 |
133 |
1.7e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177880
AA Change: I224V
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136408
Gene: ENSMUSG00000028629
AA Change: I224V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Exo5
|
71 |
196 |
1.1e-30 |
PFAM |
|
Pfam:PDDEXK_1
|
94 |
353 |
6.5e-7 |
PFAM |
|
Pfam:Exo5
|
190 |
355 |
1.5e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.3738 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,882,312 (GRCm39) |
L1158P |
probably damaging |
Het |
| Acnat1 |
A |
T |
4: 49,451,077 (GRCm39) |
N11K |
possibly damaging |
Het |
| Ammecr1l |
T |
A |
18: 31,909,056 (GRCm39) |
I217N |
possibly damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,635,473 (GRCm39) |
R54* |
probably null |
Het |
| Ccdc178 |
C |
T |
18: 22,264,471 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,372,114 (GRCm39) |
S425P |
probably benign |
Het |
| Cnmd |
A |
G |
14: 79,894,045 (GRCm39) |
V114A |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,686,941 (GRCm39) |
T651A |
unknown |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,923,778 (GRCm39) |
|
probably null |
Het |
| Dmrta1 |
A |
T |
4: 89,579,853 (GRCm39) |
D271V |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,963,144 (GRCm39) |
|
probably null |
Het |
| Fam162b |
C |
A |
10: 51,463,314 (GRCm39) |
A118S |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,283,325 (GRCm39) |
T406A |
possibly damaging |
Het |
| Grk3 |
T |
C |
5: 113,062,849 (GRCm39) |
N666S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,922,576 (GRCm39) |
F370L |
possibly damaging |
Het |
| Ighv8-11 |
T |
G |
12: 115,531,223 (GRCm39) |
|
probably benign |
Het |
| Iho1 |
G |
T |
9: 108,290,205 (GRCm39) |
T133N |
possibly damaging |
Het |
| Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,897,389 (GRCm39) |
D1534G |
possibly damaging |
Het |
| Kcnk2 |
G |
C |
1: 189,072,214 (GRCm39) |
T38S |
possibly damaging |
Het |
| Kif16b |
C |
T |
2: 142,598,042 (GRCm39) |
V527I |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,276,133 (GRCm39) |
Y1789H |
probably damaging |
Het |
| Lpl |
A |
C |
8: 69,353,895 (GRCm39) |
D412A |
possibly damaging |
Het |
| Lrrc27 |
T |
G |
7: 138,803,529 (GRCm39) |
L151R |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,190,980 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,185,069 (GRCm39) |
Y829* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,192 (GRCm39) |
Y447C |
probably damaging |
Het |
| Or4f57 |
T |
C |
2: 111,790,494 (GRCm39) |
Y308C |
probably benign |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,222 (GRCm39) |
V381A |
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,061,249 (GRCm39) |
W79* |
probably null |
Het |
| Skic2 |
T |
C |
17: 35,059,361 (GRCm39) |
M1029V |
probably benign |
Het |
| Stil |
A |
G |
4: 114,873,483 (GRCm39) |
R369G |
probably null |
Het |
| Ttc41 |
T |
C |
10: 86,560,238 (GRCm39) |
I387T |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,187 (GRCm39) |
L1262P |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,819,445 (GRCm39) |
H1206R |
probably damaging |
Het |
|
| Other mutations in Exo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02932:Exo5
|
APN |
4 |
120,779,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03063:Exo5
|
APN |
4 |
120,778,830 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0417:Exo5
|
UTSW |
4 |
120,779,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Exo5
|
UTSW |
4 |
120,779,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0609:Exo5
|
UTSW |
4 |
120,778,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1126:Exo5
|
UTSW |
4 |
120,779,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Exo5
|
UTSW |
4 |
120,779,748 (GRCm39) |
missense |
probably benign |
|
|
R5093:Exo5
|
UTSW |
4 |
120,779,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5125:Exo5
|
UTSW |
4 |
120,778,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5178:Exo5
|
UTSW |
4 |
120,778,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6492:Exo5
|
UTSW |
4 |
120,778,734 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6736:Exo5
|
UTSW |
4 |
120,778,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7602:Exo5
|
UTSW |
4 |
120,778,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8425:Exo5
|
UTSW |
4 |
120,779,560 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8699:Exo5
|
UTSW |
4 |
120,779,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Exo5
|
UTSW |
4 |
120,779,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9057:Exo5
|
UTSW |
4 |
120,779,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Exo5
|
UTSW |
4 |
120,778,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCAATAGCTGGGAGATCAGACAG -3'
(R):5'- TGATTCCTGCCCTACAGTCG -3'
Sequencing Primer
(F):5'- GTGTAAGAGACAAGAAAACCAGTTCC -3'
(R):5'- CGCGTCAGAGAGTTTCCAGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation