Incidental Mutation 'IGL02932:Exo5'
| ID |
364150 |
| 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 # |
IGL02932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
120778399-120782202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120779742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 41
(L41P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030375]
[ENSMUST00000144114]
[ENSMUST00000156836]
[ENSMUST00000177880]
|
| AlphaFold |
Q9CXP9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030375
AA Change: L41P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030375
Gene: ENSMUSG00000028629
AA Change: L41P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116454
Gene: ENSMUSG00000028629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo5
|
1 |
141 |
2.8e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156836
AA Change: L41P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000118041
Gene: ENSMUSG00000028629
AA Change: L41P
| 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 benign
Transcript: ENSMUST00000177880
AA Change: L41P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136408
Gene: ENSMUSG00000028629
AA Change: L41P
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
T |
A |
9: 9,115,709 (GRCm39) |
E122D |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 30,979,067 (GRCm39) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,713,536 (GRCm39) |
S265P |
probably benign |
Het |
| Cep44 |
C |
T |
8: 57,000,459 (GRCm39) |
R18Q |
probably damaging |
Het |
| Clec10a |
T |
C |
11: 70,060,554 (GRCm39) |
|
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,579,065 (GRCm39) |
I115V |
probably benign |
Het |
| Coq3 |
C |
T |
4: 21,900,430 (GRCm39) |
A219V |
probably benign |
Het |
| Cry2 |
G |
A |
2: 92,243,462 (GRCm39) |
R460* |
probably null |
Het |
| Ddx39b |
A |
G |
17: 35,472,337 (GRCm39) |
|
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,662,755 (GRCm39) |
R646C |
probably damaging |
Het |
| Ears2 |
G |
A |
7: 121,662,284 (GRCm39) |
R55C |
probably damaging |
Het |
| Eif3m |
C |
T |
2: 104,845,214 (GRCm39) |
G26R |
probably damaging |
Het |
| Fut10 |
A |
G |
8: 31,749,965 (GRCm39) |
H417R |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,037,929 (GRCm39) |
L296Q |
probably damaging |
Het |
| Gpr143 |
A |
T |
X: 151,576,439 (GRCm39) |
|
probably benign |
Het |
| Htr1b |
C |
A |
9: 81,513,689 (GRCm39) |
R306L |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,661,858 (GRCm39) |
A2185T |
probably damaging |
Het |
| Mbd5 |
C |
A |
2: 49,169,460 (GRCm39) |
Q1544K |
possibly damaging |
Het |
| Mccc1 |
T |
C |
3: 36,014,178 (GRCm39) |
E713G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,817,505 (GRCm39) |
F415S |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Mup6 |
A |
C |
4: 60,006,009 (GRCm39) |
D159A |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,037,472 (GRCm39) |
L698P |
probably damaging |
Het |
| Or2w6 |
A |
T |
13: 21,843,001 (GRCm39) |
M164K |
probably damaging |
Het |
| Or4p22 |
G |
T |
2: 88,317,519 (GRCm39) |
V148F |
probably benign |
Het |
| Or5p70 |
A |
G |
7: 107,994,720 (GRCm39) |
N131S |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,738,287 (GRCm39) |
C97* |
probably null |
Het |
| Osgepl1 |
G |
A |
1: 53,360,675 (GRCm39) |
R372H |
probably benign |
Het |
| Pias2 |
C |
T |
18: 77,232,799 (GRCm39) |
H537Y |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,572,783 (GRCm39) |
I149M |
probably damaging |
Het |
| Smn1 |
A |
G |
13: 100,264,472 (GRCm39) |
T68A |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,707,231 (GRCm39) |
K657R |
possibly damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,098,190 (GRCm39) |
H625Q |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
| Tmem255a |
T |
A |
X: 37,296,940 (GRCm39) |
T280S |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,215 (GRCm39) |
T128A |
possibly damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,509,591 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Exo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation