Incidental Mutation 'R1290:Exd2'
| ID |
150764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exd2
|
| Ensembl Gene |
ENSMUSG00000032705 |
| Gene Name |
exonuclease 3'-5' domain containing 2 |
| Synonyms |
4930539P14Rik, Exdl2 |
| MMRRC Submission |
039356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R1290 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80509869-80544909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80531100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 99
(L99Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038185]
[ENSMUST00000219039]
[ENSMUST00000219272]
|
| AlphaFold |
Q8VEG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038185
AA Change: L253Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
AA Change: L253Q
| 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: ENSMUST00000219039
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219272
AA Change: L99Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219477
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfrp1 |
C |
T |
2: 181,006,397 (GRCm39) |
|
probably null |
Het |
| Borcs5 |
A |
G |
6: 134,621,331 (GRCm39) |
D34G |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,320,936 (GRCm39) |
V123A |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,373,000 (GRCm39) |
D1026G |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,449 (GRCm39) |
F286S |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,228,117 (GRCm39) |
|
probably null |
Het |
| Ints1 |
A |
T |
5: 139,757,165 (GRCm39) |
L417* |
probably null |
Het |
| Iqgap2 |
A |
T |
13: 95,805,021 (GRCm39) |
V845E |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,125,001 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
T |
C |
18: 74,402,557 (GRCm39) |
S20P |
possibly damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,051,725 (GRCm39) |
N238I |
probably damaging |
Het |
| Neurod2 |
A |
T |
11: 98,218,114 (GRCm39) |
V350E |
possibly damaging |
Het |
| P3h2 |
C |
T |
16: 25,805,953 (GRCm39) |
E297K |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,398,283 (GRCm39) |
H78R |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 119,007,518 (GRCm39) |
L297R |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,587,275 (GRCm39) |
G445D |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,140,778 (GRCm39) |
D659G |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,411 (GRCm39) |
Q194R |
probably benign |
Het |
| Tas2r104 |
A |
T |
6: 131,661,808 (GRCm39) |
C300* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,707,199 (GRCm39) |
S702N |
probably benign |
Het |
| Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,356,145 (GRCm39) |
D785E |
probably benign |
Het |
|
| Other mutations in Exd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Exd2
|
APN |
12 |
80,522,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGAGAACATTAGGCATGAGCACC -3'
(R):5'- GCAGCATGACCATTATTGTCTTGAGTG -3'
Sequencing Primer
(F):5'- tttggataaactcccagaaaagc -3'
(R):5'- GAGTGTCACTTGACAATAAGTCTAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation