Incidental Mutation 'R6907:Exd1'
ID |
538809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Exd1
|
Ensembl Gene |
ENSMUSG00000048647 |
Gene Name |
exonuclease 3'-5' domain containing 1 |
Synonyms |
Exdl1, 4932702D22Rik |
MMRRC Submission |
044999-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6907 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119346986-119378108 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119363957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 137
(V137A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060009]
[ENSMUST00000171024]
|
AlphaFold |
Q8CDF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060009
AA Change: V137A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054980 Gene: ENSMUSG00000048647 AA Change: V137A
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
35EXOc
|
134 |
325 |
2.29e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171024
AA Change: V137A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126713 Gene: ENSMUSG00000048647 AA Change: V137A
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (38/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
possibly damaging |
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 |
|
R4711:Exd1
|
UTSW |
2 |
119,369,232 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
|
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'- TGTTACTAGGGAAAGCATCAAGATC -3'
(R):5'- AAAGTGCTTTGTCTTGATCAGG -3'
Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- CTTGATCAGGCAAGATGGGTC -3'
|
Posted On |
2018-11-06 |