Incidental Mutation 'R1017:Dnase1l2'
| ID |
96506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l2
|
| Ensembl Gene |
ENSMUSG00000024136 |
| Gene Name |
deoxyribonuclease 1-like 2 |
| Synonyms |
4733401H14Rik |
| MMRRC Submission |
039121-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1017 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24659061-24662075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24661446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 56
(A56T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024946]
[ENSMUST00000056032]
[ENSMUST00000088506]
[ENSMUST00000119932]
[ENSMUST00000148820]
[ENSMUST00000226754]
[ENSMUST00000226654]
[ENSMUST00000154675]
[ENSMUST00000226941]
|
| 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: A56T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000085862
Gene: ENSMUSG00000024136
AA Change: A56T
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
5 |
276 |
4.18e-185 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119932
AA Change: A56T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136
AA Change: A56T
| 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
AA Change: A56T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000119453
Gene: ENSMUSG00000024136
AA Change: A56T
| 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 |
noncoding transcript
Transcript: ENSMUST00000227241
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154675
|
| SMART Domains |
Protein: ENSMUSP00000116743
Gene: ENSMUSG00000024136
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
1 |
180 |
4.58e-86 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227293
|
| Meta Mutation Damage Score |
0.0967 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
C |
T |
6: 125,038,223 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,907 (GRCm39) |
I3064F |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,242,617 (GRCm39) |
R884L |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,145,443 (GRCm39) |
F317L |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,077,021 (GRCm39) |
I358N |
probably damaging |
Het |
| Ccin |
A |
G |
4: 43,985,222 (GRCm39) |
D543G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,167,572 (GRCm39) |
D1806V |
probably damaging |
Het |
| Cdh6 |
C |
T |
15: 13,051,562 (GRCm39) |
R357Q |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,293,797 (GRCm39) |
M64V |
possibly damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,779,794 (GRCm39) |
F74I |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,307 (GRCm39) |
I302N |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,634,633 (GRCm39) |
D190V |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,398 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
| Gm10306 |
A |
G |
4: 94,444,957 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,237,923 (GRCm39) |
S292P |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,718,097 (GRCm39) |
|
probably null |
Het |
| Hoxa3 |
G |
T |
6: 52,149,386 (GRCm39) |
|
probably null |
Het |
| Irak3 |
T |
C |
10: 119,978,789 (GRCm39) |
E554G |
possibly damaging |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,832,413 (GRCm39) |
D379N |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,213 (GRCm39) |
V1032A |
probably damaging |
Het |
| Lmln |
T |
G |
16: 32,908,546 (GRCm39) |
I324R |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,005,501 (GRCm39) |
S1547P |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,069,522 (GRCm39) |
T175S |
probably damaging |
Het |
| Mrps6 |
T |
A |
16: 91,855,346 (GRCm39) |
L8* |
probably null |
Het |
| Mtmr11 |
A |
C |
3: 96,071,794 (GRCm39) |
T203P |
probably damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,552 (GRCm39) |
D96G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,889,179 (GRCm39) |
E7531G |
unknown |
Het |
| Or2k2 |
A |
T |
4: 58,785,115 (GRCm39) |
S202R |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,855 (GRCm39) |
D180E |
probably damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,772 (GRCm39) |
L185I |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,380,063 (GRCm39) |
Y69C |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,579,343 (GRCm39) |
W136* |
probably null |
Het |
| Raver1 |
T |
C |
9: 20,990,886 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,021,116 (GRCm39) |
K2E |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,107,107 (GRCm39) |
T417I |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,710,117 (GRCm39) |
K388R |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,583,277 (GRCm39) |
R88G |
probably damaging |
Het |
| Vldlr |
A |
C |
19: 27,218,733 (GRCm39) |
Y528S |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,543,924 (GRCm39) |
L68H |
probably damaging |
Het |
| Zfp605 |
C |
T |
5: 110,275,860 (GRCm39) |
T326I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAAAGGCTCCCGGCTGAAAG -3'
(R):5'- TGTCATAGCACAGGTGAGGCCAAG -3'
Sequencing Primer
(F):5'- TGGCTTGCTGCTCACAAAG -3'
(R):5'- TGAGGCCAAGTGGGGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation