Incidental Mutation 'IGL02032:Exd1'
ID |
184388 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Exd1
|
Ensembl Gene |
ENSMUSG00000048647 |
Gene Name |
exonuclease 3'-5' domain containing 1 |
Synonyms |
Exdl1, 4932702D22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02032
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
119346986-119378108 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 119363948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 140
(Q140P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060009]
[ENSMUST00000171024]
|
AlphaFold |
Q8CDF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060009
AA Change: Q140P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054980 Gene: ENSMUSG00000048647 AA Change: Q140P
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
35EXOc
|
134 |
325 |
2.29e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171024
AA Change: Q140P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126713 Gene: ENSMUSG00000048647 AA Change: Q140P
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
35EXOc
|
134 |
325 |
2.29e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are fertile and viable, but exhibit defective biogenesis of antisense piRNAs and activation of transposons in male germ cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
T |
A |
5: 62,828,340 (GRCm39) |
I944F |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,622,796 (GRCm39) |
K614R |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,703,767 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
G |
A |
1: 139,702,284 (GRCm39) |
P67S |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,269,474 (GRCm39) |
Y1491F |
probably benign |
Het |
Dennd2d |
T |
C |
3: 106,398,543 (GRCm39) |
I176T |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 30,996,326 (GRCm39) |
Y2670C |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,107,769 (GRCm39) |
H833L |
probably damaging |
Het |
Ell |
G |
A |
8: 71,038,651 (GRCm39) |
A463T |
probably benign |
Het |
Emsy |
G |
T |
7: 98,239,987 (GRCm39) |
D1089E |
possibly damaging |
Het |
Erc1 |
T |
G |
6: 119,607,570 (GRCm39) |
K677N |
probably damaging |
Het |
Fam114a1 |
T |
A |
5: 65,172,714 (GRCm39) |
V284E |
probably benign |
Het |
Fbxo36 |
A |
G |
1: 84,874,387 (GRCm39) |
|
probably benign |
Het |
Fig4 |
A |
T |
10: 41,179,002 (GRCm39) |
V16E |
probably benign |
Het |
H2-M1 |
A |
T |
17: 36,982,768 (GRCm39) |
Y31N |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,665,886 (GRCm39) |
|
probably benign |
Het |
Nol8 |
A |
G |
13: 49,826,248 (GRCm39) |
T1023A |
probably benign |
Het |
Or1b1 |
A |
T |
2: 36,994,773 (GRCm39) |
S296R |
probably damaging |
Het |
Pygm |
A |
T |
19: 6,438,117 (GRCm39) |
T141S |
probably benign |
Het |
Soat1 |
A |
G |
1: 156,268,145 (GRCm39) |
I254T |
probably benign |
Het |
Spopfm1 |
T |
C |
3: 94,173,640 (GRCm39) |
V212A |
probably damaging |
Het |
Stat5a |
A |
T |
11: 100,752,654 (GRCm39) |
D79V |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,774,432 (GRCm39) |
T2158N |
probably damaging |
Het |
Usp29 |
A |
G |
7: 6,965,017 (GRCm39) |
K287E |
probably benign |
Het |
Vav1 |
A |
T |
17: 57,604,090 (GRCm39) |
E164V |
possibly damaging |
Het |
Vmn2r3 |
T |
A |
3: 64,182,476 (GRCm39) |
T408S |
possibly damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,949,466 (GRCm39) |
I629F |
probably damaging |
Het |
|
Other mutations in Exd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01295:Exd1
|
APN |
2 |
119,360,560 (GRCm39) |
splice site |
probably benign |
|
IGL02040:Exd1
|
APN |
2 |
119,370,546 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02831:Exd1
|
APN |
2 |
119,359,235 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03008:Exd1
|
APN |
2 |
119,350,862 (GRCm39) |
missense |
probably benign |
0.01 |
R0350:Exd1
|
UTSW |
2 |
119,354,047 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1423:Exd1
|
UTSW |
2 |
119,370,494 (GRCm39) |
splice site |
probably benign |
|
R1466:Exd1
|
UTSW |
2 |
119,351,215 (GRCm39) |
splice site |
probably benign |
|
R1524:Exd1
|
UTSW |
2 |
119,355,155 (GRCm39) |
missense |
probably damaging |
0.98 |
R2011:Exd1
|
UTSW |
2 |
119,359,144 (GRCm39) |
intron |
probably benign |
|
R2026:Exd1
|
UTSW |
2 |
119,350,786 (GRCm39) |
missense |
probably benign |
|
R4711:Exd1
|
UTSW |
2 |
119,369,232 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4827:Exd1
|
UTSW |
2 |
119,350,807 (GRCm39) |
missense |
probably benign |
|
R4828:Exd1
|
UTSW |
2 |
119,350,807 (GRCm39) |
missense |
probably benign |
|
R4829:Exd1
|
UTSW |
2 |
119,350,807 (GRCm39) |
missense |
probably benign |
|
R4830:Exd1
|
UTSW |
2 |
119,350,807 (GRCm39) |
missense |
probably benign |
|
R5799:Exd1
|
UTSW |
2 |
119,369,262 (GRCm39) |
missense |
probably benign |
0.01 |
R6570:Exd1
|
UTSW |
2 |
119,350,654 (GRCm39) |
missense |
probably benign |
|
R6654:Exd1
|
UTSW |
2 |
119,355,198 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6907:Exd1
|
UTSW |
2 |
119,363,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R7325:Exd1
|
UTSW |
2 |
119,350,620 (GRCm39) |
missense |
probably benign |
0.28 |
R7684:Exd1
|
UTSW |
2 |
119,350,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R7921:Exd1
|
UTSW |
2 |
119,360,580 (GRCm39) |
missense |
probably damaging |
0.99 |
R8029:Exd1
|
UTSW |
2 |
119,359,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R8428:Exd1
|
UTSW |
2 |
119,369,348 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8516:Exd1
|
UTSW |
2 |
119,350,554 (GRCm39) |
missense |
probably damaging |
0.97 |
R9136:Exd1
|
UTSW |
2 |
119,359,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R9390:Exd1
|
UTSW |
2 |
119,354,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R9451:Exd1
|
UTSW |
2 |
119,355,064 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9655:Exd1
|
UTSW |
2 |
119,350,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2014-05-07 |