Incidental Mutation 'R2408:Exd2'
| ID |
248106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exd2
|
| Ensembl Gene |
ENSMUSG00000032705 |
| Gene Name |
exonuclease 3'-5' domain containing 2 |
| Synonyms |
4930539P14Rik, Exdl2 |
| MMRRC Submission |
040374-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R2408 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80509869-80544909 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 80531015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038185]
[ENSMUST00000219039]
[ENSMUST00000219272]
|
| AlphaFold |
Q8VEG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038185
|
| SMART Domains |
Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219477
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,730,121 (GRCm39) |
L103V |
probably null |
Het |
| BC051076 |
C |
T |
5: 88,111,684 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc191 |
A |
T |
16: 43,751,561 (GRCm39) |
Q239L |
probably benign |
Het |
| Dennd4b |
G |
T |
3: 90,178,882 (GRCm39) |
G538* |
probably null |
Het |
| Dipk1a |
T |
C |
5: 108,062,291 (GRCm39) |
D78G |
possibly damaging |
Het |
| Dusp7 |
C |
T |
9: 106,246,361 (GRCm39) |
A122V |
probably benign |
Het |
| Gm10782 |
C |
A |
13: 56,510,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
T |
A |
12: 108,284,806 (GRCm39) |
D386E |
probably benign |
Het |
| Hnf1a |
C |
T |
5: 115,098,070 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
A |
G |
1: 173,583,198 (GRCm39) |
F340S |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,249,476 (GRCm39) |
D541G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,663,456 (GRCm39) |
L1218Q |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,264,095 (GRCm39) |
D136G |
probably damaging |
Het |
| Nbl1 |
C |
T |
4: 138,810,843 (GRCm39) |
C117Y |
probably damaging |
Het |
| Niban2 |
A |
G |
2: 32,813,482 (GRCm39) |
Y565C |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,132,710 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,044,301 (GRCm39) |
M417K |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,748,277 (GRCm39) |
E3G |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,902 (GRCm39) |
S60P |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,832,575 (GRCm39) |
Y197C |
probably damaging |
Het |
| Tmem222 |
T |
C |
4: 132,998,335 (GRCm39) |
H73R |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,315,267 (GRCm39) |
G151D |
possibly damaging |
Het |
| Ttc16 |
A |
G |
2: 32,658,020 (GRCm39) |
F409L |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,916,439 (GRCm39) |
Q925R |
probably null |
Het |
| Ucn3 |
T |
G |
13: 3,991,413 (GRCm39) |
I80L |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,372,517 (GRCm39) |
S302P |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 7,229,410 (GRCm39) |
|
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,848,937 (GRCm39) |
E144G |
possibly damaging |
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 |
|
|
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 |
|
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 |
80,522,674 (GRCm39) |
intron |
probably benign |
|
|
RF035:Exd2
|
UTSW |
12 |
80,522,729 (GRCm39) |
intron |
probably benign |
|
|
RF039:Exd2
|
UTSW |
12 |
80,522,715 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTAGTGTTGCAGTGAATAGC -3'
(R):5'- TGCATTGAAGACTAGAACCAACTC -3'
Sequencing Primer
(F):5'- GTCCTTTGGATAAACTCCCAGAAAAG -3'
(R):5'- CCTCTGATCACAAGTACCTGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation