Incidental Mutation 'IGL00323:Exd2'
ID |
10566 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Exd2
|
Ensembl Gene |
ENSMUSG00000032705 |
Gene Name |
exonuclease 3'-5' domain containing 2 |
Synonyms |
4930539P14Rik, Exdl2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
IGL00323
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
80509869-80544909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80522940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 133
(V133A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038185]
[ENSMUST00000219272]
|
AlphaFold |
Q8VEG4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038185
AA Change: V133A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043049 Gene: ENSMUSG00000032705 AA Change: V133A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
40 |
72 |
N/A |
INTRINSIC |
35EXOc
|
105 |
291 |
3.8e-10 |
SMART |
Blast:HNHc
|
438 |
492 |
1e-6 |
BLAST |
low complexity region
|
517 |
532 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219272
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219477
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5m1 |
T |
C |
14: 49,311,247 (GRCm39) |
Y106H |
probably damaging |
Het |
Atrnl1 |
C |
A |
19: 57,680,249 (GRCm39) |
N716K |
probably benign |
Het |
Ccnq |
A |
G |
11: 78,641,782 (GRCm39) |
V236A |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,683 (GRCm39) |
N1075K |
possibly damaging |
Het |
Daam1 |
G |
A |
12: 72,005,517 (GRCm39) |
|
probably benign |
Het |
Glrb |
T |
C |
3: 80,769,262 (GRCm39) |
D155G |
probably damaging |
Het |
Gm13941 |
T |
A |
2: 110,935,198 (GRCm39) |
M11L |
unknown |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Inpp5d |
G |
T |
1: 87,611,537 (GRCm39) |
V329F |
probably benign |
Het |
Lilrb4b |
A |
T |
10: 51,357,347 (GRCm39) |
D61V |
probably benign |
Het |
Malt1 |
T |
A |
18: 65,582,034 (GRCm39) |
C299* |
probably null |
Het |
Or10j27 |
G |
A |
1: 172,957,978 (GRCm39) |
Q269* |
probably null |
Het |
Or4f14 |
A |
T |
2: 111,742,381 (GRCm39) |
M298K |
possibly damaging |
Het |
Pigk |
C |
A |
3: 152,453,269 (GRCm39) |
S282* |
probably null |
Het |
Pik3r1 |
T |
A |
13: 101,827,044 (GRCm39) |
M1L |
probably benign |
Het |
Pnpla1 |
A |
G |
17: 29,096,416 (GRCm39) |
Y165C |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,524,702 (GRCm39) |
N631D |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,416,969 (GRCm39) |
D1381V |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,382,223 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
T |
11: 106,210,745 (GRCm39) |
D1757E |
probably benign |
Het |
Sec62 |
T |
C |
3: 30,864,591 (GRCm39) |
|
probably benign |
Het |
Smarca5 |
G |
A |
8: 81,440,670 (GRCm39) |
T598M |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,884,948 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
C |
7: 127,141,885 (GRCm39) |
|
probably benign |
Het |
Stab1 |
T |
A |
14: 30,861,263 (GRCm39) |
E71D |
probably benign |
Het |
Trhde |
A |
T |
10: 114,322,652 (GRCm39) |
S716R |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,726,859 (GRCm39) |
|
probably benign |
Het |
Wscd2 |
A |
C |
5: 113,689,236 (GRCm39) |
T81P |
possibly damaging |
Het |
Zfp335 |
G |
A |
2: 164,734,302 (GRCm39) |
T1295I |
probably damaging |
Het |
|
Other mutations in Exd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00546:Exd2
|
APN |
12 |
80,527,321 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02964:Exd2
|
APN |
12 |
80,527,302 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03036:Exd2
|
APN |
12 |
80,536,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R0304:Exd2
|
UTSW |
12 |
80,538,014 (GRCm39) |
unclassified |
probably benign |
|
R0436:Exd2
|
UTSW |
12 |
80,537,544 (GRCm39) |
splice site |
probably benign |
|
R1290:Exd2
|
UTSW |
12 |
80,531,100 (GRCm39) |
missense |
probably benign |
0.00 |
R1772:Exd2
|
UTSW |
12 |
80,536,253 (GRCm39) |
missense |
probably benign |
0.00 |
R2102:Exd2
|
UTSW |
12 |
80,527,377 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2104:Exd2
|
UTSW |
12 |
80,543,575 (GRCm39) |
missense |
probably benign |
0.01 |
R2408:Exd2
|
UTSW |
12 |
80,531,015 (GRCm39) |
splice site |
probably benign |
|
R3693:Exd2
|
UTSW |
12 |
80,527,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Exd2
|
UTSW |
12 |
80,527,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R4773:Exd2
|
UTSW |
12 |
80,522,592 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5022:Exd2
|
UTSW |
12 |
80,543,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Exd2
|
UTSW |
12 |
80,543,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R5179:Exd2
|
UTSW |
12 |
80,531,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5377:Exd2
|
UTSW |
12 |
80,536,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R7246:Exd2
|
UTSW |
12 |
80,527,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R7761:Exd2
|
UTSW |
12 |
80,522,546 (GRCm39) |
missense |
probably damaging |
0.98 |
R7776:Exd2
|
UTSW |
12 |
80,539,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R8032:Exd2
|
UTSW |
12 |
80,536,427 (GRCm39) |
missense |
probably benign |
0.00 |
R8420:Exd2
|
UTSW |
12 |
80,522,771 (GRCm39) |
missense |
probably benign |
|
R8559:Exd2
|
UTSW |
12 |
80,522,631 (GRCm39) |
missense |
probably benign |
0.00 |
R9064:Exd2
|
UTSW |
12 |
80,531,148 (GRCm39) |
critical splice donor site |
probably null |
|
R9173:Exd2
|
UTSW |
12 |
80,536,236 (GRCm39) |
missense |
probably benign |
0.00 |
R9274:Exd2
|
UTSW |
12 |
80,539,674 (GRCm39) |
critical splice donor site |
probably null |
|
R9674:Exd2
|
UTSW |
12 |
80,536,372 (GRCm39) |
missense |
probably benign |
0.00 |
RF013:Exd2
|
UTSW |
12 |
80,522,706 (GRCm39) |
frame shift |
probably null |
|
RF015:Exd2
|
UTSW |
12 |
80,522,691 (GRCm39) |
intron |
probably benign |
|
RF022:Exd2
|
UTSW |
12 |
80,522,691 (GRCm39) |
intron |
probably benign |
|
RF023:Exd2
|
UTSW |
12 |
80,522,689 (GRCm39) |
intron |
probably benign |
|
RF025:Exd2
|
UTSW |
12 |
80,522,729 (GRCm39) |
intron |
probably benign |
|
RF029:Exd2
|
UTSW |
12 |
80,522,720 (GRCm39) |
frame shift |
probably null |
|
RF035:Exd2
|
UTSW |
12 |
80,522,729 (GRCm39) |
intron |
probably benign |
|
RF035:Exd2
|
UTSW |
12 |
80,522,674 (GRCm39) |
intron |
probably benign |
|
RF039:Exd2
|
UTSW |
12 |
80,522,715 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2012-12-06 |