Incidental Mutation 'R6570:Exd1'
| ID |
526207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exd1
|
| Ensembl Gene |
ENSMUSG00000048647 |
| Gene Name |
exonuclease 3'-5' domain containing 1 |
| Synonyms |
Exdl1, 4932702D22Rik |
| MMRRC Submission |
044694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6570 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119346986-119378108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119350654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 536
(T536A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060009]
[ENSMUST00000171024]
|
| AlphaFold |
Q8CDF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060009
AA Change: T536A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: T536A
| 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: ENSMUST00000171024
AA Change: T536A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: T536A
| 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: 99.5%
- 20x: 98.2%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh15 |
T |
C |
8: 123,584,130 (GRCm39) |
V77A |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,651,820 (GRCm39) |
V3077I |
unknown |
Het |
| Erbb2 |
T |
C |
11: 98,313,873 (GRCm39) |
L272P |
possibly damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,675,731 (GRCm39) |
R401L |
possibly damaging |
Het |
| Mad2l1bp |
A |
T |
17: 46,463,933 (GRCm39) |
H30Q |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,371,855 (GRCm39) |
L26P |
probably damaging |
Het |
| Mmp16 |
G |
A |
4: 18,011,501 (GRCm39) |
V110I |
possibly damaging |
Het |
| Or2m13 |
T |
C |
16: 19,226,068 (GRCm39) |
S233G |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,824,906 (GRCm39) |
A863V |
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,108,028 (GRCm39) |
S219N |
probably benign |
Het |
| Serpine3 |
T |
A |
14: 62,911,770 (GRCm39) |
L244Q |
probably damaging |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,883 (GRCm39) |
V205A |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,895,927 (GRCm39) |
V481A |
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 |
|
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'- CAGCAGGCTTCAGCACTAAG -3'
(R):5'- TCTAAGAACAAACCGGGGTGTTG -3'
Sequencing Primer
(F):5'- ATGTGCCCAGAAGCCTGTG -3'
(R):5'- AAACCGGGGTGTTGGGAGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation