Incidental Mutation 'R4711:Exd1'
| ID |
353254 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119346986-119378108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119369232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 128
(S128P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060009]
[ENSMUST00000133668]
[ENSMUST00000171024]
|
| AlphaFold |
Q8CDF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060009
AA Change: S128P
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: S128P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
35EXOc
|
134 |
325 |
2.29e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133668
|
| SMART Domains |
Protein: ENSMUSP00000116082
Gene: ENSMUSG00000048647
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171024
AA Change: S128P
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: S128P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
35EXOc
|
134 |
325 |
2.29e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,366,288 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,288,910 (GRCm39) |
N358D |
possibly damaging |
Het |
| Col20a1 |
G |
C |
2: 180,634,284 (GRCm39) |
G83A |
probably damaging |
Het |
| Copa |
T |
G |
1: 171,947,555 (GRCm39) |
F1124V |
probably damaging |
Het |
| Cyp2c66 |
G |
A |
19: 39,151,843 (GRCm39) |
R186H |
possibly damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,358,208 (GRCm39) |
T323M |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,618 (GRCm39) |
I664V |
possibly damaging |
Het |
| Erp29 |
A |
G |
5: 121,583,293 (GRCm39) |
I211T |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,540,389 (GRCm39) |
N264Y |
probably damaging |
Het |
| Gsdma2 |
T |
A |
11: 98,540,439 (GRCm39) |
S119R |
probably damaging |
Het |
| H2ac1 |
C |
T |
13: 24,118,796 (GRCm39) |
P118S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,691 (GRCm39) |
|
probably null |
Het |
| Ino80c |
T |
C |
18: 24,247,222 (GRCm39) |
N59S |
probably benign |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 103,470,627 (GRCm39) |
V25A |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,012,336 (GRCm39) |
T193A |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,399,770 (GRCm39) |
F414L |
unknown |
Het |
| Nat10 |
A |
T |
2: 103,578,612 (GRCm39) |
C197* |
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,420,093 (GRCm39) |
K11E |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,069 (GRCm39) |
M1K |
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,370 (GRCm39) |
I173V |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,929,437 (GRCm39) |
I582T |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,153,976 (GRCm39) |
I232V |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,166,958 (GRCm39) |
T664S |
probably benign |
Het |
| Pdik1l |
G |
C |
4: 134,006,301 (GRCm39) |
R214G |
probably benign |
Het |
| Prss37 |
C |
T |
6: 40,492,381 (GRCm39) |
V157M |
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,667 (GRCm39) |
|
noncoding transcript |
Het |
| Ring1 |
T |
C |
17: 34,241,333 (GRCm39) |
E261G |
possibly damaging |
Het |
| Sf3a3 |
C |
A |
4: 124,621,974 (GRCm39) |
D371E |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,005,177 (GRCm39) |
|
probably null |
Het |
| Spred1 |
T |
A |
2: 117,005,866 (GRCm39) |
S209R |
probably benign |
Het |
| Tas2r121 |
T |
C |
6: 132,677,853 (GRCm39) |
T40A |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,537 (GRCm39) |
T187A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 36,191,039 (GRCm39) |
V311I |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,527 (GRCm39) |
V683A |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,167 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,660,404 (GRCm39) |
A7439V |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,626,795 (GRCm39) |
I838T |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,536 (GRCm39) |
T183A |
probably benign |
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 |
|
IGL02831:Exd1
|
APN |
2 |
119,359,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTACCAGAGCTCAGTGGG -3'
(R):5'- CAGTGACAAAGGACAATTCACCTG -3'
Sequencing Primer
(F):5'- CCTGGAATTCACTTTGTAGACCAGG -3'
(R):5'- GACAAAGGACAATTCACCTGAATATG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation