Incidental Mutation 'R6329:Dnase1l1'
| ID |
509441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l1
|
| Ensembl Gene |
ENSMUSG00000019088 |
| Gene Name |
deoxyribonuclease 1-like 1 |
| Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
| MMRRC Submission |
044483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6329 (G1)
|
| Quality Score |
221.999 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
73316823-73325939 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 73320644 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008826]
[ENSMUST00000019232]
[ENSMUST00000074085]
[ENSMUST00000075821]
[ENSMUST00000114189]
[ENSMUST00000119361]
[ENSMUST00000151702]
[ENSMUST00000135690]
|
| AlphaFold |
Q9D7J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008826
|
| SMART Domains |
Protein: ENSMUSP00000008826
Gene: ENSMUSG00000008682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L16
|
5 |
167 |
1.1e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000019232
|
| SMART Domains |
Protein: ENSMUSP00000019232
Gene: ENSMUSG00000019088
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
21 |
289 |
3.93e-149 |
SMART |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074085
|
| SMART Domains |
Protein: ENSMUSP00000082055
Gene: ENSMUSG00000008682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L16
|
5 |
167 |
1.1e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000075821
|
| SMART Domains |
Protein: ENSMUSP00000075218
Gene: ENSMUSG00000019088
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
21 |
289 |
3.93e-149 |
SMART |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083047
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114189
|
| SMART Domains |
Protein: ENSMUSP00000109827
Gene: ENSMUSG00000019088
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DNaseIc
|
21 |
70 |
5e-22 |
BLAST |
|
SCOP:d2dnja_
|
39 |
79 |
2e-4 |
SMART |
|
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119361
|
| SMART Domains |
Protein: ENSMUSP00000113515
Gene: ENSMUSG00000019088
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DNaseIc
|
21 |
64 |
2e-22 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142142
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151702
|
| SMART Domains |
Protein: ENSMUSP00000115919
Gene: ENSMUSG00000008682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L16
|
5 |
167 |
1.5e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135690
|
| SMART Domains |
Protein: ENSMUSP00000119500
Gene: ENSMUSG00000008682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L16
|
5 |
150 |
1.2e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184075
|
| Meta Mutation Damage Score |
0.9711 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]
PHENOTYPE: Female mice homozygous for an inactivating mutation of this gene exhibit poor motor coordination on the rotarod even on days 4 and 5 of a 5-day test. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,879,457 (GRCm39) |
H72R |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,227,937 (GRCm39) |
N660I |
probably damaging |
Het |
| Actr8 |
C |
T |
14: 29,715,041 (GRCm39) |
R619* |
probably null |
Het |
| Adam18 |
C |
A |
8: 25,104,843 (GRCm39) |
G657V |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,510,227 (GRCm39) |
E85G |
probably benign |
Het |
| Akr1c14 |
A |
G |
13: 4,137,302 (GRCm39) |
Y305C |
probably damaging |
Het |
| Ankdd1b |
T |
A |
13: 96,591,388 (GRCm39) |
H37L |
possibly damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,903,636 (GRCm39) |
L846P |
probably benign |
Het |
| Aqp9 |
A |
T |
9: 71,039,966 (GRCm39) |
Y105* |
probably null |
Het |
| Arid1b |
C |
T |
17: 5,387,538 (GRCm39) |
Q1664* |
probably null |
Het |
| Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
| Bnip1 |
C |
A |
17: 27,005,684 (GRCm39) |
S64* |
probably null |
Het |
| Calcr |
T |
A |
6: 3,687,621 (GRCm39) |
Q422L |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,539,147 (GRCm39) |
D407V |
possibly damaging |
Het |
| Ccdc66 |
G |
T |
14: 27,208,441 (GRCm39) |
S760R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,193 (GRCm39) |
E38V |
probably damaging |
Het |
| Cggbp1 |
T |
C |
16: 64,676,383 (GRCm39) |
Y150H |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,252,510 (GRCm39) |
K263R |
possibly damaging |
Het |
| Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,435,662 (GRCm39) |
T858A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,580,273 (GRCm39) |
D1554V |
probably damaging |
Het |
| Dnajc25 |
A |
T |
4: 59,013,678 (GRCm39) |
Q132L |
probably benign |
Het |
| Ehbp1l1 |
A |
C |
19: 5,768,795 (GRCm39) |
I836S |
possibly damaging |
Het |
| Elf1 |
A |
G |
14: 79,810,779 (GRCm39) |
Q288R |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,150,393 (GRCm39) |
V2608L |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,268,551 (GRCm39) |
I232T |
possibly damaging |
Het |
| Fuca1 |
T |
A |
4: 135,662,137 (GRCm39) |
I355N |
probably damaging |
Het |
| Gcnt4 |
A |
G |
13: 97,083,781 (GRCm39) |
D359G |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,790,494 (GRCm39) |
M30T |
possibly damaging |
Het |
| Grk1 |
T |
G |
8: 13,455,704 (GRCm39) |
L196R |
probably damaging |
Het |
| Igkv14-126 |
A |
C |
6: 67,873,548 (GRCm39) |
D92A |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,520,600 (GRCm39) |
S1837P |
probably benign |
Het |
| Lhx4 |
T |
A |
1: 155,578,300 (GRCm39) |
T281S |
probably benign |
Het |
| Lrrc55 |
G |
T |
2: 85,026,653 (GRCm39) |
H124N |
probably benign |
Het |
| Marchf8 |
T |
A |
6: 116,383,277 (GRCm39) |
I566N |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,288 (GRCm39) |
A3091V |
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,458,847 (GRCm39) |
N355S |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,920,411 (GRCm39) |
V278A |
probably benign |
Het |
| Nod1 |
T |
C |
6: 54,921,689 (GRCm39) |
M210V |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,422,138 (GRCm39) |
C63* |
probably null |
Het |
| Or1e1f |
A |
G |
11: 73,855,568 (GRCm39) |
I45V |
possibly damaging |
Het |
| Or1j17 |
A |
T |
2: 36,578,694 (GRCm39) |
K227* |
probably null |
Het |
| Or4g7 |
C |
T |
2: 111,309,573 (GRCm39) |
A148V |
possibly damaging |
Het |
| Or5d37 |
G |
A |
2: 87,924,008 (GRCm39) |
P91S |
probably damaging |
Het |
| Or7g21 |
A |
C |
9: 19,032,253 (GRCm39) |
M1L |
probably benign |
Het |
| Or8b37 |
T |
C |
9: 37,959,121 (GRCm39) |
V201A |
probably benign |
Het |
| Or8g24 |
C |
T |
9: 38,989,199 (GRCm39) |
V281I |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,665,153 (GRCm39) |
S517C |
probably damaging |
Het |
| Pcdha1 |
C |
T |
18: 37,065,301 (GRCm39) |
P655L |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
| Perp |
G |
A |
10: 18,731,502 (GRCm39) |
G154S |
probably damaging |
Het |
| Perp |
G |
T |
10: 18,731,503 (GRCm39) |
G154V |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,850 (GRCm39) |
T340A |
probably damaging |
Het |
| Prokr1 |
T |
G |
6: 87,558,774 (GRCm39) |
T204P |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,739,890 (GRCm39) |
C630S |
probably damaging |
Het |
| Pter |
C |
A |
2: 12,985,359 (GRCm39) |
H230N |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,724,427 (GRCm39) |
Y1167* |
probably null |
Het |
| Rad54l2 |
T |
C |
9: 106,595,121 (GRCm39) |
I279V |
possibly damaging |
Het |
| Rora |
T |
A |
9: 69,280,468 (GRCm39) |
L347Q |
probably damaging |
Het |
| Runx1t1 |
T |
G |
4: 13,785,136 (GRCm39) |
M1R |
probably null |
Het |
| Sdcbp |
A |
G |
4: 6,381,064 (GRCm39) |
S70G |
probably benign |
Het |
| Serpinb12 |
A |
G |
1: 106,881,493 (GRCm39) |
Y210C |
probably damaging |
Het |
| Sipa1 |
T |
C |
19: 5,701,517 (GRCm39) |
E1015G |
probably damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,572,144 (GRCm39) |
L740R |
possibly damaging |
Het |
| Specc1 |
A |
G |
11: 62,047,379 (GRCm39) |
E916G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,041,743 (GRCm39) |
I1371T |
possibly damaging |
Het |
| Tagln3 |
T |
C |
16: 45,533,365 (GRCm39) |
M130V |
probably benign |
Het |
| Tchh |
A |
T |
3: 93,353,752 (GRCm39) |
E1064V |
unknown |
Het |
| Tdp1 |
A |
T |
12: 99,880,330 (GRCm39) |
S464C |
probably damaging |
Het |
| Tdp1 |
G |
C |
12: 99,880,331 (GRCm39) |
S464T |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,884 (GRCm39) |
Y1374C |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,402,833 (GRCm39) |
Y455* |
probably null |
Het |
| Ttc5 |
A |
G |
14: 51,003,385 (GRCm39) |
V433A |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,240,449 (GRCm39) |
R180* |
probably null |
Het |
| Zfp53 |
A |
G |
17: 21,728,372 (GRCm39) |
D135G |
probably benign |
Het |
| Zfp619 |
T |
A |
7: 39,186,969 (GRCm39) |
C1000S |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Dnase1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4691:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4752:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4753:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4814:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4815:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4846:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4861:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4862:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4872:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4873:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4875:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4978:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4979:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4980:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4981:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4982:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4983:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5039:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5084:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5085:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5086:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5087:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5106:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5107:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5108:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5109:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5137:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5171:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5266:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5296:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5330:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5417:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5418:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5419:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5448:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5450:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5466:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5467:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6126:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6128:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6129:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6130:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6232:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6233:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6234:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6242:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6305:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6306:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6343:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6344:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6396:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6397:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6449:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6450:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6585:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6586:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6646:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6679:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6681:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6845:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6847:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8526:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGGTACCAGAGTGGCTGC -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- CAACATCATTCCATTATACCTTACCC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation