Incidental Mutation 'IGL03123:Dnase1l2'
ID |
410039 |
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 # |
IGL03123
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24659061-24662075 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24661226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 28
(M28V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024946]
[ENSMUST00000056032]
[ENSMUST00000088506]
[ENSMUST00000119932]
[ENSMUST00000148820]
[ENSMUST00000154675]
[ENSMUST00000226754]
[ENSMUST00000226941]
[ENSMUST00000226654]
|
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 |
probably benign
Transcript: ENSMUST00000088506
AA Change: M100V
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000085862 Gene: ENSMUSG00000024136 AA Change: M100V
Domain | Start | End | E-Value | Type |
DNaseIc
|
5 |
276 |
4.18e-185 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119932
AA Change: M100V
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113508 Gene: ENSMUSG00000024136 AA Change: M100V
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: M28V
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000116743 Gene: ENSMUSG00000024136 AA Change: M28V
Domain | Start | End | E-Value | Type |
DNaseIc
|
1 |
180 |
4.58e-86 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226754
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226941
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228882
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226654
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,044,110 (GRCm39) |
V112A |
probably benign |
Het |
Caprin2 |
G |
T |
6: 148,796,505 (GRCm39) |
A36E |
probably damaging |
Het |
Castor1 |
A |
T |
11: 4,170,278 (GRCm39) |
T119S |
probably damaging |
Het |
Eci1 |
T |
A |
17: 24,655,300 (GRCm39) |
|
probably null |
Het |
Edil3 |
T |
A |
13: 89,279,855 (GRCm39) |
S178T |
probably damaging |
Het |
Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
Exoc3l4 |
A |
G |
12: 111,388,547 (GRCm39) |
E12G |
probably damaging |
Het |
Frmd7 |
G |
A |
X: 49,984,835 (GRCm39) |
T445I |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,365,953 (GRCm39) |
E344G |
probably damaging |
Het |
H2-M10.4 |
A |
G |
17: 36,772,812 (GRCm39) |
Y57H |
probably damaging |
Het |
Hnmt |
T |
C |
2: 23,909,171 (GRCm39) |
I81V |
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Htra3 |
C |
T |
5: 35,823,477 (GRCm39) |
V280I |
probably damaging |
Het |
Impg2 |
G |
T |
16: 56,087,485 (GRCm39) |
E992D |
probably damaging |
Het |
Kctd4 |
T |
C |
14: 76,200,418 (GRCm39) |
W130R |
possibly damaging |
Het |
Kdm3b |
T |
A |
18: 34,942,544 (GRCm39) |
|
probably null |
Het |
Kmt2d |
G |
A |
15: 98,759,652 (GRCm39) |
T1202M |
unknown |
Het |
Lrp11 |
A |
T |
10: 7,478,689 (GRCm39) |
D326V |
probably damaging |
Het |
Lrrcc1 |
A |
T |
3: 14,601,144 (GRCm39) |
I59F |
probably damaging |
Het |
Lyg2 |
G |
A |
1: 37,954,845 (GRCm39) |
|
probably benign |
Het |
Med16 |
A |
G |
10: 79,732,667 (GRCm39) |
V699A |
probably damaging |
Het |
Myo18b |
G |
T |
5: 113,022,804 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,531,767 (GRCm39) |
T744A |
probably damaging |
Het |
Or1e1f |
T |
A |
11: 73,855,812 (GRCm39) |
I126N |
probably damaging |
Het |
Oser1 |
A |
T |
2: 163,253,309 (GRCm39) |
|
probably benign |
Het |
Pcdhgc5 |
T |
C |
18: 37,952,966 (GRCm39) |
V80A |
probably benign |
Het |
Pi4ka |
C |
T |
16: 17,100,539 (GRCm39) |
G1857D |
possibly damaging |
Het |
Pitpnc1 |
C |
T |
11: 107,228,237 (GRCm39) |
|
probably null |
Het |
Pofut2 |
A |
G |
10: 77,102,844 (GRCm39) |
E137G |
probably benign |
Het |
Rgsl1 |
A |
T |
1: 153,701,687 (GRCm39) |
W291R |
probably damaging |
Het |
Rnf113a2 |
T |
C |
12: 84,465,050 (GRCm39) |
I314T |
probably benign |
Het |
Rps2 |
C |
T |
17: 24,939,263 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,224 (GRCm39) |
K1148E |
probably damaging |
Het |
Slc45a2 |
A |
G |
15: 11,012,741 (GRCm39) |
D248G |
probably benign |
Het |
Slit2 |
G |
T |
5: 48,368,681 (GRCm39) |
R352L |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,756,404 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,994,272 (GRCm39) |
C1217* |
probably null |
Het |
Tbcb |
A |
G |
7: 29,926,261 (GRCm39) |
|
probably benign |
Het |
Tinf2 |
T |
C |
14: 55,918,346 (GRCm39) |
D128G |
probably damaging |
Het |
Traf3ip2 |
A |
G |
10: 39,515,218 (GRCm39) |
D332G |
possibly damaging |
Het |
Tram1 |
A |
G |
1: 13,659,829 (GRCm39) |
F40L |
probably benign |
Het |
Trank1 |
A |
T |
9: 111,196,475 (GRCm39) |
I1500L |
probably damaging |
Het |
Wdfy4 |
G |
A |
14: 32,884,827 (GRCm39) |
P25L |
probably benign |
Het |
Wnt5a |
G |
T |
14: 28,244,882 (GRCm39) |
Q376H |
probably damaging |
Het |
Zfp526 |
A |
C |
7: 24,924,049 (GRCm39) |
T103P |
probably benign |
Het |
|
Other mutations in Dnase1l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01718:Dnase1l2
|
APN |
17 |
24,660,690 (GRCm39) |
missense |
possibly damaging |
0.52 |
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 |
2016-08-02 |