Incidental Mutation 'IGL03063:Exo5'
| ID |
409541 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exo5
|
| Ensembl Gene |
ENSMUSG00000028629 |
| Gene Name |
exonuclease 5 |
| Synonyms |
Dem1, 3110037I16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
120778399-120782202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120778830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 345
(T345I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030375]
[ENSMUST00000144114]
[ENSMUST00000156836]
[ENSMUST00000177880]
|
| AlphaFold |
Q9CXP9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030375
AA Change: T345I
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030375
Gene: ENSMUSG00000028629
AA Change: T345I
| 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 |
probably benign
Transcript: ENSMUST00000144114
AA Change: T131I
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116454
Gene: ENSMUSG00000028629
AA Change: T131I
| 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 |
possibly damaging
Transcript: ENSMUST00000177880
AA Change: T345I
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136408
Gene: ENSMUSG00000028629
AA Change: T345I
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
| Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
| Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
| Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
| Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
| Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
| Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
| Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
| Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
| Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
| Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R2401:Exo5
|
UTSW |
4 |
120,779,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation