Incidental Mutation 'R4873:Dnase1l1'
ID |
376839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnase1l1
|
Ensembl Gene |
ENSMUSG00000019088 |
Gene Name |
deoxyribonuclease 1-like 1 |
Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
MMRRC Submission |
042483-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4873 (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]
[ENSMUST00000135690]
[ENSMUST00000151702]
|
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: ENSMUST00000125775
|
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: 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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149171
|
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 |
|
Meta Mutation Damage Score |
0.9711 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
98% (40/41) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak1 |
A |
T |
2: 32,521,189 (GRCm39) |
E119D |
probably benign |
Het |
Alox5 |
A |
T |
6: 116,390,811 (GRCm39) |
|
probably null |
Het |
Atad5 |
T |
C |
11: 80,011,515 (GRCm39) |
V1294A |
probably damaging |
Het |
BB019430 |
A |
G |
10: 58,539,865 (GRCm39) |
|
noncoding transcript |
Het |
Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
Catsperb |
A |
T |
12: 101,554,244 (GRCm39) |
N646I |
possibly damaging |
Het |
Ccdc112 |
A |
G |
18: 46,429,356 (GRCm39) |
I114T |
probably damaging |
Het |
Cecr2 |
T |
C |
6: 120,727,877 (GRCm39) |
L340P |
probably damaging |
Het |
Ces2e |
T |
A |
8: 105,653,817 (GRCm39) |
V85E |
probably damaging |
Het |
Cnpy2 |
C |
A |
10: 128,161,964 (GRCm39) |
T79K |
probably damaging |
Het |
Cntn4 |
G |
A |
6: 106,414,874 (GRCm39) |
R135H |
possibly damaging |
Het |
Cyp3a16 |
C |
A |
5: 145,389,659 (GRCm39) |
M235I |
probably benign |
Het |
Dll3 |
A |
G |
7: 27,995,860 (GRCm39) |
C314R |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,728,085 (GRCm39) |
N2928D |
probably benign |
Het |
Dqx1 |
C |
A |
6: 83,037,993 (GRCm39) |
D460E |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Ehbp1 |
A |
G |
11: 22,051,164 (GRCm39) |
C438R |
probably damaging |
Het |
Ehd3 |
T |
G |
17: 74,112,299 (GRCm39) |
V21G |
probably damaging |
Het |
Ero1b |
G |
A |
13: 12,619,325 (GRCm39) |
V440I |
probably damaging |
Het |
Fpgt |
G |
A |
3: 154,793,550 (GRCm39) |
A159V |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,714,229 (GRCm39) |
L123P |
possibly damaging |
Het |
Gm14496 |
A |
T |
2: 181,639,226 (GRCm39) |
R439W |
probably damaging |
Het |
Gm4353 |
G |
C |
7: 115,683,648 (GRCm39) |
P49R |
probably damaging |
Het |
Gsdmc2 |
C |
T |
15: 63,700,101 (GRCm39) |
A224T |
probably benign |
Het |
Hnf1a |
T |
C |
5: 115,108,732 (GRCm39) |
T58A |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kcns1 |
T |
C |
2: 164,010,021 (GRCm39) |
Y246C |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,742,892 (GRCm39) |
E549G |
probably benign |
Het |
Krt9 |
T |
C |
11: 100,080,863 (GRCm39) |
I330V |
probably benign |
Het |
Lair1 |
A |
T |
7: 4,032,033 (GRCm39) |
S25T |
probably benign |
Het |
Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
Luzp2 |
A |
G |
7: 54,816,996 (GRCm39) |
I149V |
possibly damaging |
Het |
Mcoln1 |
T |
A |
8: 3,557,422 (GRCm39) |
S143T |
probably benign |
Het |
Mcph1 |
A |
G |
8: 18,675,574 (GRCm39) |
|
probably null |
Het |
Mgat5 |
G |
A |
1: 127,396,986 (GRCm39) |
V578M |
probably damaging |
Het |
Mis18bp1 |
G |
A |
12: 65,208,209 (GRCm39) |
T168M |
probably benign |
Het |
Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
Myom1 |
T |
C |
17: 71,379,114 (GRCm39) |
V626A |
probably damaging |
Het |
Naa80 |
C |
T |
9: 107,460,818 (GRCm39) |
R238C |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,418,921 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
A |
T |
7: 5,301,858 (GRCm39) |
F211L |
probably benign |
Het |
Or10a49 |
A |
T |
7: 108,467,993 (GRCm39) |
F123I |
probably damaging |
Het |
Or10q12 |
T |
A |
19: 13,746,126 (GRCm39) |
M140K |
probably damaging |
Het |
Or2ad1 |
T |
A |
13: 21,326,450 (GRCm39) |
Y259F |
probably damaging |
Het |
Osbpl11 |
G |
A |
16: 33,054,863 (GRCm39) |
V649I |
probably benign |
Het |
Oscar |
A |
T |
7: 3,619,016 (GRCm39) |
|
probably null |
Het |
Pax8 |
T |
A |
2: 24,331,652 (GRCm39) |
M144L |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,205,688 (GRCm39) |
T2555A |
probably benign |
Het |
Plat |
T |
A |
8: 23,258,466 (GRCm39) |
I23K |
probably benign |
Het |
Plpp2 |
G |
A |
10: 79,366,763 (GRCm39) |
T51M |
probably damaging |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Prl7c1 |
T |
C |
13: 27,957,742 (GRCm39) |
M233V |
probably benign |
Het |
Prox1 |
A |
C |
1: 189,894,319 (GRCm39) |
F42C |
probably damaging |
Het |
Pwwp2b |
A |
T |
7: 138,835,978 (GRCm39) |
Q473L |
possibly damaging |
Het |
Rims4 |
A |
T |
2: 163,707,443 (GRCm39) |
N127K |
probably null |
Het |
Scn1a |
T |
C |
2: 66,158,820 (GRCm39) |
T367A |
possibly damaging |
Het |
Slc23a2 |
A |
G |
2: 131,898,800 (GRCm39) |
I579T |
possibly damaging |
Het |
Sp9 |
T |
C |
2: 73,103,962 (GRCm39) |
V172A |
possibly damaging |
Het |
Spta1 |
T |
A |
1: 174,003,396 (GRCm39) |
L109Q |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,038,343 (GRCm39) |
|
probably benign |
Het |
Tcstv2c |
T |
C |
13: 120,616,206 (GRCm39) |
V15A |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,750,932 (GRCm39) |
M1216K |
unknown |
Het |
Tpst2 |
T |
A |
5: 112,457,687 (GRCm39) |
Y69* |
probably null |
Het |
Tpx2 |
C |
A |
2: 152,735,535 (GRCm39) |
A721E |
probably benign |
Het |
Trmt1l |
A |
G |
1: 151,330,755 (GRCm39) |
T591A |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,015,330 (GRCm39) |
|
probably benign |
Het |
Ubiad1 |
T |
C |
4: 148,528,556 (GRCm39) |
T118A |
possibly damaging |
Het |
Unc13c |
T |
C |
9: 73,424,566 (GRCm39) |
T2017A |
probably damaging |
Het |
Vmn1r59 |
G |
T |
7: 5,457,108 (GRCm39) |
N217K |
probably benign |
Het |
Vmn2r87 |
T |
C |
10: 130,308,367 (GRCm39) |
I624V |
probably damaging |
Het |
Wdr4 |
A |
G |
17: 31,718,129 (GRCm39) |
V315A |
probably benign |
Het |
Xpo7 |
T |
C |
14: 70,914,256 (GRCm39) |
|
probably null |
Het |
Zfp827 |
T |
A |
8: 79,787,403 (GRCm39) |
W190R |
probably damaging |
Het |
Zfp971 |
A |
G |
2: 177,674,940 (GRCm39) |
T180A |
probably benign |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
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 |
|
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 |
|
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'- AGATTGGTACCAGAGTGGCTG -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- TACCAGAGTGGCTGCAGAC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
Posted On |
2016-03-17 |