Incidental Mutation 'IGL01718:Dnase1l2'
| ID |
104996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnase1l2
|
| Ensembl Gene |
ENSMUSG00000024136 |
| Gene Name |
deoxyribonuclease 1-like 2 |
| Synonyms |
4733401H14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24659061-24662075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24660690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 188
(D188G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024946]
[ENSMUST00000056032]
[ENSMUST00000088506]
[ENSMUST00000119932]
[ENSMUST00000148820]
[ENSMUST00000154675]
[ENSMUST00000226941]
[ENSMUST00000226654]
[ENSMUST00000226754]
|
| AlphaFold |
Q9D1G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024946
|
| SMART Domains |
Protein: ENSMUSP00000024946
Gene: ENSMUSG00000024132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Pfam:ECH_1
|
39 |
288 |
3.2e-96 |
PFAM |
|
Pfam:ECH_2
|
44 |
289 |
5.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056032
|
| SMART Domains |
Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
35 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
57 |
82 |
3.95e1 |
SMART |
|
low complexity region
|
84 |
99 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
193 |
215 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
249 |
269 |
5.62e0 |
SMART |
|
low complexity region
|
295 |
311 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
433 |
455 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
517 |
539 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
573 |
593 |
2.06e1 |
SMART |
|
low complexity region
|
599 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088506
AA Change: D188G
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085862
Gene: ENSMUSG00000024136
AA Change: D188G
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
5 |
276 |
4.18e-185 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119932
AA Change: D188G
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136
AA Change: D188G
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
5 |
276 |
4.18e-185 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148820
|
| SMART Domains |
Protein: ENSMUSP00000119453
Gene: ENSMUSG00000024136
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DNaseIc
|
5 |
60 |
2e-33 |
BLAST |
|
PDB:4AWN|A
|
22 |
60 |
5e-8 |
PDB |
|
SCOP:d2dnja_
|
22 |
60 |
3e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153858
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154675
AA Change: D116G
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116743
Gene: ENSMUSG00000024136
AA Change: D116G
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
1 |
180 |
4.58e-86 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227293
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruption in this gene retain DNA in corneocytes of the hair and some other structures. Mice homozygous for a different knock-out allele exhibit decreased grip strength, decreased body weight, abnormal homeostasis and abnormal skeleton. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
A |
G |
7: 66,049,953 (GRCm39) |
F422L |
possibly damaging |
Het |
| Ap2m1 |
T |
C |
16: 20,360,944 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,883 (GRCm39) |
Y68C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,704 (GRCm39) |
I434F |
possibly damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,774 (GRCm39) |
R78S |
unknown |
Het |
| Exosc9 |
T |
C |
3: 36,608,078 (GRCm39) |
|
probably benign |
Het |
| Fgf23 |
G |
A |
6: 127,057,436 (GRCm39) |
V251I |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,489,534 (GRCm39) |
T296A |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,617 (GRCm39) |
E633G |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,212,576 (GRCm39) |
M16V |
probably benign |
Het |
| Jakmip3 |
T |
G |
7: 138,591,121 (GRCm39) |
S2A |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,258,555 (GRCm39) |
N1347K |
probably damaging |
Het |
| Mars1 |
T |
C |
10: 127,141,707 (GRCm39) |
R266G |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,199 (GRCm39) |
S79P |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,675 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
T |
A |
9: 18,946,584 (GRCm39) |
L55* |
probably null |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,111 (GRCm39) |
|
probably benign |
Het |
| Ppid |
G |
T |
3: 79,500,986 (GRCm39) |
C52F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,152,512 (GRCm39) |
I2318T |
possibly damaging |
Het |
| Rhpn2 |
G |
A |
7: 35,070,179 (GRCm39) |
D146N |
probably benign |
Het |
| Tspoap1 |
G |
T |
11: 87,671,081 (GRCm39) |
R1670L |
possibly damaging |
Het |
| Ttc22 |
G |
A |
4: 106,495,773 (GRCm39) |
V376M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,609,682 (GRCm39) |
Q1094* |
probably null |
Het |
| Zfp831 |
C |
T |
2: 174,485,631 (GRCm39) |
T102I |
possibly damaging |
Het |
| Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
probably benign |
Het |
|
| Other mutations in Dnase1l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03123:Dnase1l2
|
APN |
17 |
24,661,226 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03052:Dnase1l2
|
UTSW |
17 |
24,659,968 (GRCm39) |
unclassified |
probably benign |
|
|
R0035:Dnase1l2
|
UTSW |
17 |
24,660,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0035:Dnase1l2
|
UTSW |
17 |
24,660,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0646:Dnase1l2
|
UTSW |
17 |
24,660,056 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0743:Dnase1l2
|
UTSW |
17 |
24,660,854 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0884:Dnase1l2
|
UTSW |
17 |
24,660,854 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1017:Dnase1l2
|
UTSW |
17 |
24,661,446 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1988:Dnase1l2
|
UTSW |
17 |
24,660,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Dnase1l2
|
UTSW |
17 |
24,661,699 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5943:Dnase1l2
|
UTSW |
17 |
24,661,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6228:Dnase1l2
|
UTSW |
17 |
24,661,492 (GRCm39) |
unclassified |
probably benign |
|
|
R6353:Dnase1l2
|
UTSW |
17 |
24,661,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Dnase1l2
|
UTSW |
17 |
24,661,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Dnase1l2
|
UTSW |
17 |
24,661,266 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8959:Dnase1l2
|
UTSW |
17 |
24,661,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Dnase1l2
|
UTSW |
17 |
24,660,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation