Incidental Mutation 'IGL02831:Exd1'
| ID |
361451 |
| 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 # |
IGL02831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119346986-119378108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119359235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
| 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: D216G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: D216G
| 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: D216G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: D216G
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,982,469 (GRCm39) |
C456S |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
| Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Ip6k2 |
C |
T |
9: 108,681,733 (GRCm39) |
|
probably benign |
Het |
| Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
| Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,429 (GRCm39) |
S551R |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
| Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
| Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,434 (GRCm39) |
V782L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,190 (GRCm39) |
E379G |
probably damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
| Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 7,913,787 (GRCm39) |
Y621H |
possibly damaging |
Het |
| Wfdc8 |
C |
T |
2: 164,447,685 (GRCm39) |
|
probably null |
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 |
|
|
IGL02032:Exd1
|
APN |
2 |
119,363,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Exd1
|
APN |
2 |
119,370,546 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
2015-12-18 |
Incidental Mutation