Incidental Mutation 'R4979:Dnase1l1'
ID |
384715 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnase1l1
|
Ensembl Gene |
ENSMUSG00000019088 |
Gene Name |
deoxyribonuclease 1-like 1 |
Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
MMRRC Submission |
042574-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4979 (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 |
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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
A |
17: 9,220,643 (GRCm39) |
E381K |
probably damaging |
Het |
Abca1 |
T |
C |
4: 53,085,092 (GRCm39) |
|
probably null |
Het |
Abca7 |
C |
T |
10: 79,840,617 (GRCm39) |
Q870* |
probably null |
Het |
Ambp |
C |
T |
4: 63,070,888 (GRCm39) |
V64M |
probably benign |
Het |
Ank1 |
T |
C |
8: 23,622,212 (GRCm39) |
V1542A |
probably damaging |
Het |
Anln |
T |
C |
9: 22,287,797 (GRCm39) |
Y168C |
probably benign |
Het |
Apoa4 |
T |
A |
9: 46,152,803 (GRCm39) |
N29K |
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,283,334 (GRCm39) |
T192A |
probably damaging |
Het |
Atad2b |
G |
T |
12: 5,084,513 (GRCm39) |
D1420Y |
probably damaging |
Het |
Baiap3 |
A |
G |
17: 25,465,336 (GRCm39) |
W648R |
possibly damaging |
Het |
Bank1 |
A |
G |
3: 135,960,662 (GRCm39) |
L198P |
probably damaging |
Het |
Bicd2 |
A |
G |
13: 49,532,940 (GRCm39) |
K509E |
possibly damaging |
Het |
Cacna1e |
T |
C |
1: 154,289,739 (GRCm39) |
D1821G |
probably damaging |
Het |
Ccdc80 |
G |
A |
16: 44,936,650 (GRCm39) |
V692M |
possibly damaging |
Het |
Ccdc88a |
C |
T |
11: 29,432,133 (GRCm39) |
Q308* |
probably null |
Het |
Ccl8 |
T |
C |
11: 82,006,973 (GRCm39) |
V62A |
probably damaging |
Het |
Clspn |
C |
A |
4: 126,472,179 (GRCm39) |
P951Q |
probably damaging |
Het |
Cngb1 |
T |
A |
8: 95,985,785 (GRCm39) |
I858F |
probably damaging |
Het |
Cspp1 |
T |
A |
1: 10,196,688 (GRCm39) |
N900K |
probably damaging |
Het |
Ctc1 |
C |
T |
11: 68,924,328 (GRCm39) |
A960V |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 31,009,221 (GRCm39) |
E1106G |
probably damaging |
Het |
Dido1 |
C |
T |
2: 180,302,606 (GRCm39) |
R1766H |
probably damaging |
Het |
Dipk1a |
A |
T |
5: 108,057,400 (GRCm39) |
L386* |
probably null |
Het |
Dnajc13 |
G |
T |
9: 104,063,922 (GRCm39) |
N1341K |
probably damaging |
Het |
E2f8 |
G |
A |
7: 48,524,918 (GRCm39) |
|
probably benign |
Het |
Entpd8 |
A |
G |
2: 24,972,967 (GRCm39) |
D91G |
possibly damaging |
Het |
Fars2 |
A |
G |
13: 36,388,564 (GRCm39) |
R18G |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,816,995 (GRCm39) |
S2486G |
probably benign |
Het |
Fibin |
C |
T |
2: 110,192,963 (GRCm39) |
D60N |
possibly damaging |
Het |
Fpgs |
A |
G |
2: 32,577,379 (GRCm39) |
|
probably benign |
Het |
Galnt15 |
A |
G |
14: 31,765,247 (GRCm39) |
D303G |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,899,049 (GRCm39) |
T812K |
possibly damaging |
Het |
Gpbar1 |
G |
C |
1: 74,318,404 (GRCm39) |
A216P |
probably benign |
Het |
Grin2d |
A |
G |
7: 45,507,357 (GRCm39) |
I448T |
probably benign |
Het |
Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
Iqce |
G |
T |
5: 140,677,376 (GRCm39) |
D148E |
probably damaging |
Het |
Iqcg |
T |
A |
16: 32,839,884 (GRCm39) |
E354V |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,226,320 (GRCm39) |
|
probably benign |
Het |
Ly75 |
C |
T |
2: 60,206,238 (GRCm39) |
G144S |
probably damaging |
Het |
Marco |
C |
A |
1: 120,421,954 (GRCm39) |
M83I |
probably benign |
Het |
Mettl6 |
A |
T |
14: 31,201,752 (GRCm39) |
L185H |
probably damaging |
Het |
Mppe1 |
C |
T |
18: 67,362,773 (GRCm39) |
G154D |
probably damaging |
Het |
Mrpl42 |
T |
C |
10: 95,326,237 (GRCm39) |
E85G |
probably benign |
Het |
Neb |
A |
G |
2: 52,079,921 (GRCm39) |
V5518A |
probably damaging |
Het |
Or12d13 |
A |
T |
17: 37,647,759 (GRCm39) |
F121L |
probably benign |
Het |
Or52p1 |
T |
A |
7: 104,267,812 (GRCm39) |
F317I |
probably null |
Het |
Or5b105 |
A |
T |
19: 13,080,053 (GRCm39) |
I199N |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,766 (GRCm39) |
C242* |
probably null |
Het |
Or7d10 |
G |
T |
9: 19,831,655 (GRCm39) |
S50I |
probably benign |
Het |
Perm1 |
A |
G |
4: 156,302,034 (GRCm39) |
T193A |
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,582,652 (GRCm39) |
C172S |
probably damaging |
Het |
Prr23a3 |
T |
A |
9: 98,747,431 (GRCm39) |
D128E |
possibly damaging |
Het |
Prss28 |
A |
G |
17: 25,528,711 (GRCm39) |
Y51C |
probably damaging |
Het |
Psmb1 |
A |
T |
17: 15,696,451 (GRCm39) |
M85K |
probably benign |
Het |
Rae1 |
T |
A |
2: 172,854,401 (GRCm39) |
|
probably benign |
Het |
Rasal1 |
A |
G |
5: 120,816,741 (GRCm39) |
D759G |
probably benign |
Het |
Rcvrn |
G |
A |
11: 67,586,246 (GRCm39) |
G2R |
probably damaging |
Het |
Robo3 |
C |
T |
9: 37,334,640 (GRCm39) |
A597T |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
Sdcbp |
T |
A |
4: 6,378,980 (GRCm39) |
Y22* |
probably null |
Het |
Sin3a |
T |
C |
9: 57,025,360 (GRCm39) |
F1069L |
probably damaging |
Het |
Slitrk3 |
C |
T |
3: 72,957,129 (GRCm39) |
V548I |
possibly damaging |
Het |
Tbc1d22a |
A |
G |
15: 86,275,287 (GRCm39) |
H403R |
probably damaging |
Het |
Tbr1 |
G |
T |
2: 61,635,593 (GRCm39) |
|
probably null |
Het |
Tiam2 |
T |
A |
17: 3,555,985 (GRCm39) |
D65E |
probably damaging |
Het |
Tpcn2 |
A |
G |
7: 144,813,833 (GRCm39) |
S488P |
probably benign |
Het |
Trav9-2 |
T |
C |
14: 53,828,695 (GRCm39) |
S22P |
probably damaging |
Het |
Trim34a |
T |
A |
7: 103,897,069 (GRCm39) |
N44K |
probably benign |
Het |
Unc79 |
C |
G |
12: 103,078,691 (GRCm39) |
P1619A |
probably benign |
Het |
Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
Vhl |
A |
T |
6: 113,601,159 (GRCm39) |
M20L |
unknown |
Het |
Vmn1r215 |
G |
A |
13: 23,260,064 (GRCm39) |
A35T |
probably benign |
Het |
Vmn1r222 |
G |
A |
13: 23,416,602 (GRCm39) |
L204F |
possibly damaging |
Het |
Zfp871 |
A |
T |
17: 32,994,829 (GRCm39) |
H115Q |
probably damaging |
Het |
Zpr1 |
T |
A |
9: 46,189,640 (GRCm39) |
F340L |
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 |
|
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 |
|
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'- GATTGGTACCAGAGTGGCTG -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- TACCAGAGTGGCTGCAGAC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
Posted On |
2016-05-10 |