Incidental Mutation 'R1126:Exo5'
ID |
96144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Exo5
|
Ensembl Gene |
ENSMUSG00000028629 |
Gene Name |
exonuclease 5 |
Synonyms |
Dem1, 3110037I16Rik |
MMRRC Submission |
039199-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1126 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
120778399-120782202 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120779322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 181
(I181N)
|
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: I181N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030375 Gene: ENSMUSG00000028629 AA Change: I181N
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
|
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: I181N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136408 Gene: ENSMUSG00000028629 AA Change: I181N
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,759,062 (GRCm39) |
E1226G |
probably damaging |
Het |
Arhgef40 |
G |
T |
14: 52,234,583 (GRCm39) |
S962I |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,822,169 (GRCm39) |
M477K |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,770,222 (GRCm39) |
|
probably null |
Het |
Ephb3 |
T |
A |
16: 21,041,226 (GRCm39) |
M727K |
possibly damaging |
Het |
Fbn1 |
T |
C |
2: 125,163,112 (GRCm39) |
|
probably null |
Het |
Gas6 |
T |
C |
8: 13,533,700 (GRCm39) |
N103S |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,699 (GRCm39) |
C140* |
probably null |
Het |
Il6st |
T |
C |
13: 112,640,266 (GRCm39) |
Y681H |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,611,918 (GRCm39) |
|
probably null |
Het |
Kdm5b |
C |
T |
1: 134,541,729 (GRCm39) |
A768V |
possibly damaging |
Het |
Krt87 |
A |
T |
15: 101,385,363 (GRCm39) |
N336K |
probably damaging |
Het |
Mfsd6 |
A |
G |
1: 52,748,670 (GRCm39) |
V65A |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,081 (GRCm39) |
N90S |
probably benign |
Het |
Nlrp9a |
C |
A |
7: 26,260,166 (GRCm39) |
D640E |
probably benign |
Het |
Or11h4b |
C |
T |
14: 50,918,720 (GRCm39) |
A124T |
possibly damaging |
Het |
Or1l4 |
A |
T |
2: 37,092,113 (GRCm39) |
M287L |
probably benign |
Het |
Or2j3 |
A |
G |
17: 38,615,579 (GRCm39) |
C258R |
probably damaging |
Het |
Or5p53 |
A |
C |
7: 107,533,578 (GRCm39) |
M284L |
possibly damaging |
Het |
Parp9 |
G |
A |
16: 35,768,110 (GRCm39) |
V97I |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,458,306 (GRCm39) |
T12A |
possibly damaging |
Het |
Penk |
T |
C |
4: 4,138,119 (GRCm39) |
T9A |
probably benign |
Het |
Pilrb2 |
T |
C |
5: 137,869,222 (GRCm39) |
D126G |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,700,515 (GRCm39) |
V1807E |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 4,906,795 (GRCm39) |
E450G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,034 (GRCm39) |
R703G |
probably damaging |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,984,476 (GRCm39) |
D92G |
probably benign |
Het |
Rp1l1 |
G |
A |
14: 64,267,918 (GRCm39) |
G1168D |
probably damaging |
Het |
Saxo1 |
T |
A |
4: 86,397,224 (GRCm39) |
T105S |
probably benign |
Het |
Slc39a2 |
G |
A |
14: 52,131,602 (GRCm39) |
G58R |
probably damaging |
Het |
Tbx6 |
C |
T |
7: 126,383,891 (GRCm39) |
T315I |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,907,715 (GRCm39) |
M99T |
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,718,210 (GRCm39) |
D197G |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,936,357 (GRCm39) |
N193S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,680,347 (GRCm39) |
|
probably benign |
Het |
Vmn1r225 |
A |
G |
17: 20,722,588 (GRCm39) |
I10V |
probably benign |
Het |
Zp3r |
A |
G |
1: 130,546,079 (GRCm39) |
L77P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCCCAGTATAGTGGCAGTCTC -3'
(R):5'- CATGACCTTGTGACAGTCCCCATC -3'
Sequencing Primer
(F):5'- AGAAGGTCCCAGTGGCTTG -3'
(R):5'- TCGCCACAAAAGAAGATGCTTG -3'
|
Posted On |
2014-01-05 |