Incidental Mutation 'R5179:Exd2'
| ID |
399414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exd2
|
| Ensembl Gene |
ENSMUSG00000032705 |
| Gene Name |
exonuclease 3'-5' domain containing 2 |
| Synonyms |
4930539P14Rik, Exdl2 |
| MMRRC Submission |
042759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R5179 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80509869-80544909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80531118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 105
(W105L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038185]
[ENSMUST00000219039]
[ENSMUST00000219272]
|
| AlphaFold |
Q8VEG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038185
AA Change: W259L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
AA Change: W259L
| 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 |
unknown
Transcript: ENSMUST00000219039
AA Change: W3L
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219272
AA Change: W105L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219477
|
| Meta Mutation Damage Score |
0.3854 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
| Bmp8a |
C |
T |
4: 123,207,094 (GRCm39) |
R389H |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,299 (GRCm39) |
T248S |
possibly damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,063,181 (GRCm39) |
V503A |
probably benign |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
| Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
| Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lrg1 |
A |
G |
17: 56,427,795 (GRCm39) |
L59P |
possibly damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
| Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
| Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
| Osbpl8 |
T |
G |
10: 111,108,025 (GRCm39) |
D298E |
probably benign |
Het |
| Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
| Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Sgcd |
T |
A |
11: 46,871,711 (GRCm39) |
E208V |
probably benign |
Het |
| Slc7a8 |
A |
T |
14: 54,962,289 (GRCm39) |
C448* |
probably null |
Het |
| Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
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 |
|
|
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 |
|
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'- TGCAATCTGATAGCAAATCACC -3'
(R):5'- AATGGTCACCTCTGGGTAGAAG -3'
Sequencing Primer
(F):5'- GCAAATCACCATTTTCTTTGATGTC -3'
(R):5'- CAGAGAACTGCTTACTGTTTCTTATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation