Incidental Mutation 'R5108:Dnase1l1'
ID |
393705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnase1l1
|
Ensembl Gene |
ENSMUSG00000019088 |
Gene Name |
deoxyribonuclease 1-like 1 |
Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
MMRRC Submission |
042696-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R5108 (G1)
|
Quality Score |
222 |
Status
|
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 |
Heterozygous |
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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
99% (79/80) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,094,207 (GRCm39) |
N94Y |
probably damaging |
Het |
Ak2 |
A |
G |
4: 128,896,034 (GRCm39) |
T104A |
probably damaging |
Het |
Alox12b |
G |
T |
11: 69,048,208 (GRCm39) |
A46S |
probably benign |
Het |
Ank1 |
G |
T |
8: 23,622,571 (GRCm39) |
V1662F |
probably benign |
Het |
Anxa3 |
T |
C |
5: 96,978,273 (GRCm39) |
I219T |
possibly damaging |
Het |
Aoc1l3 |
C |
T |
6: 48,965,504 (GRCm39) |
T504I |
probably damaging |
Het |
Arhgap40 |
G |
A |
2: 158,389,599 (GRCm39) |
V588M |
probably damaging |
Het |
Arhgef38 |
T |
C |
3: 132,843,029 (GRCm39) |
T514A |
probably benign |
Het |
Ascl4 |
C |
A |
10: 85,764,422 (GRCm39) |
A23E |
probably benign |
Het |
Bcl11b |
T |
C |
12: 107,931,985 (GRCm39) |
T196A |
probably benign |
Het |
C1ra |
A |
T |
6: 124,499,881 (GRCm39) |
Y689F |
probably damaging |
Het |
Ccr3 |
A |
G |
9: 123,828,968 (GRCm39) |
N101S |
probably benign |
Het |
Cep70 |
A |
T |
9: 99,145,865 (GRCm39) |
|
probably null |
Het |
Ces1b |
A |
G |
8: 93,798,541 (GRCm39) |
V215A |
probably damaging |
Het |
Cndp1 |
A |
T |
18: 84,650,186 (GRCm39) |
I169N |
probably damaging |
Het |
Fbxo2 |
A |
G |
4: 148,250,486 (GRCm39) |
Q275R |
probably damaging |
Het |
Fbxo44 |
T |
C |
4: 148,243,020 (GRCm39) |
N133S |
probably damaging |
Het |
Fzr1 |
C |
T |
10: 81,205,284 (GRCm39) |
|
probably benign |
Het |
Grn |
T |
C |
11: 102,325,228 (GRCm39) |
S213P |
probably benign |
Het |
Ifi203 |
A |
T |
1: 173,751,580 (GRCm39) |
C414S |
probably damaging |
Het |
Igfn1 |
C |
T |
1: 135,910,179 (GRCm39) |
R135H |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,401,560 (GRCm39) |
M358V |
probably benign |
Het |
Kcnn2 |
A |
T |
18: 45,725,122 (GRCm39) |
Y471F |
probably damaging |
Het |
Klhl20 |
A |
T |
1: 160,926,820 (GRCm39) |
V391E |
probably damaging |
Het |
Krt1c |
C |
T |
15: 101,721,721 (GRCm39) |
G440D |
possibly damaging |
Het |
Lpin1 |
A |
T |
12: 16,623,716 (GRCm39) |
Y223N |
probably benign |
Het |
Luzp2 |
G |
A |
7: 54,915,038 (GRCm39) |
C321Y |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,338,536 (GRCm39) |
V1388A |
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,533,515 (GRCm39) |
H223Q |
probably benign |
Het |
Mgat4e |
G |
T |
1: 134,468,961 (GRCm39) |
P361Q |
probably benign |
Het |
Mylk3 |
A |
T |
8: 86,085,721 (GRCm39) |
I208N |
possibly damaging |
Het |
Myom2 |
T |
A |
8: 15,182,667 (GRCm39) |
V1368E |
probably damaging |
Het |
Mypn |
C |
T |
10: 62,972,073 (GRCm39) |
D656N |
probably damaging |
Het |
Nat10 |
C |
A |
2: 103,562,548 (GRCm39) |
R596L |
probably damaging |
Het |
Nek8 |
T |
C |
11: 78,063,353 (GRCm39) |
D137G |
probably damaging |
Het |
Neurl1a |
A |
G |
19: 47,246,074 (GRCm39) |
K552E |
probably damaging |
Het |
Npdc1 |
C |
T |
2: 25,298,667 (GRCm39) |
H260Y |
probably damaging |
Het |
Nuggc |
A |
T |
14: 65,876,129 (GRCm39) |
I581F |
probably damaging |
Het |
Or8d23 |
T |
A |
9: 38,842,151 (GRCm39) |
I228N |
probably damaging |
Het |
P2rx6 |
T |
C |
16: 17,380,037 (GRCm39) |
Y54H |
probably damaging |
Het |
Pcmtd2 |
A |
G |
2: 181,486,216 (GRCm39) |
E112G |
probably damaging |
Het |
Pcnx4 |
G |
A |
12: 72,620,855 (GRCm39) |
V892I |
probably benign |
Het |
Pdss1 |
T |
A |
2: 22,796,895 (GRCm39) |
V136E |
possibly damaging |
Het |
Pias3 |
T |
C |
3: 96,612,253 (GRCm39) |
L561P |
possibly damaging |
Het |
Pomgnt1 |
G |
A |
4: 116,013,453 (GRCm39) |
|
probably benign |
Het |
Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
Sec24d |
T |
A |
3: 123,099,434 (GRCm39) |
|
probably null |
Het |
Sftpb |
T |
G |
6: 72,281,640 (GRCm39) |
L11R |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,536 (GRCm39) |
I8T |
probably benign |
Het |
Slc22a30 |
A |
G |
19: 8,363,790 (GRCm39) |
S266P |
probably damaging |
Het |
Slc36a2 |
C |
A |
11: 55,050,214 (GRCm39) |
G465W |
probably damaging |
Het |
Slc4a2 |
G |
A |
5: 24,644,331 (GRCm39) |
M976I |
probably damaging |
Het |
Smcr8 |
C |
T |
11: 60,670,696 (GRCm39) |
Q615* |
probably null |
Het |
Sobp |
T |
C |
10: 43,036,815 (GRCm39) |
E41G |
probably damaging |
Het |
Spopfm1 |
C |
T |
3: 94,173,142 (GRCm39) |
S50L |
probably damaging |
Het |
Spz1 |
A |
T |
13: 92,711,554 (GRCm39) |
C307* |
probably null |
Het |
Sult1d1 |
C |
T |
5: 87,711,728 (GRCm39) |
|
probably null |
Het |
Tas2r110 |
T |
C |
6: 132,845,668 (GRCm39) |
M233T |
probably damaging |
Het |
Tmc3 |
C |
A |
7: 83,269,156 (GRCm39) |
S781R |
probably damaging |
Het |
Tmem234 |
G |
T |
4: 129,495,730 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,882,078 (GRCm39) |
Q645L |
probably benign |
Het |
Ttn |
C |
A |
2: 76,565,055 (GRCm39) |
V28391F |
probably damaging |
Het |
Txnrd3 |
G |
T |
6: 89,650,016 (GRCm39) |
A425S |
probably benign |
Het |
Ubr1 |
C |
T |
2: 120,793,903 (GRCm39) |
G94R |
probably benign |
Het |
Ufl1 |
A |
G |
4: 25,269,026 (GRCm39) |
|
probably null |
Het |
Utp20 |
T |
C |
10: 88,604,735 (GRCm39) |
D1720G |
probably benign |
Het |
Vmn1r13 |
T |
A |
6: 57,186,901 (GRCm39) |
M20K |
probably benign |
Het |
Vmn1r61 |
A |
G |
7: 5,613,519 (GRCm39) |
I265T |
probably benign |
Het |
Zfp120 |
T |
C |
2: 149,961,862 (GRCm39) |
T29A |
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 |
|
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 |
|
R6329: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 |
2016-06-15 |