Incidental Mutation 'R6128:Dnase1l1'
| ID |
487551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l1
|
| Ensembl Gene |
ENSMUSG00000019088 |
| Gene Name |
deoxyribonuclease 1-like 1 |
| Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
| MMRRC Submission |
044275-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6128 (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 |
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| A430033K04Rik |
A |
G |
5: 138,646,038 (GRCm39) |
H641R |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Asah1 |
C |
T |
8: 41,807,092 (GRCm39) |
V111M |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,526,734 (GRCm39) |
L611P |
probably damaging |
Het |
| Atl2 |
C |
A |
17: 80,172,470 (GRCm39) |
|
probably null |
Het |
| Bhlhe22 |
A |
T |
3: 18,109,987 (GRCm39) |
S346C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,313 (GRCm39) |
|
probably null |
Het |
| Bptf |
G |
T |
11: 106,965,516 (GRCm39) |
A1163D |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,448,293 (GRCm39) |
C382S |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,197,177 (GRCm39) |
Y158* |
probably null |
Het |
| Ccdc175 |
A |
T |
12: 72,175,933 (GRCm39) |
I473K |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,311,625 (GRCm39) |
I444V |
possibly damaging |
Het |
| Cep131 |
T |
A |
11: 119,956,801 (GRCm39) |
I880F |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,655,428 (GRCm39) |
I117N |
probably benign |
Het |
| Clk2 |
C |
T |
3: 89,081,531 (GRCm39) |
T289M |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,122,123 (GRCm39) |
D672V |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,962,588 (GRCm39) |
I73N |
probably damaging |
Het |
| Cyp2d12 |
C |
A |
15: 82,443,166 (GRCm39) |
D358E |
probably benign |
Het |
| Cyp7a1 |
A |
G |
4: 6,272,788 (GRCm39) |
S142P |
possibly damaging |
Het |
| Daw1 |
T |
A |
1: 83,183,647 (GRCm39) |
C232* |
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,353,835 (GRCm39) |
K195R |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,972,420 (GRCm39) |
V168A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,243,493 (GRCm39) |
N38K |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,069,821 (GRCm39) |
|
probably null |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,006,740 (GRCm39) |
E117G |
possibly damaging |
Het |
| Gbp4 |
A |
C |
5: 105,283,030 (GRCm39) |
V80G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,754,335 (GRCm39) |
D179V |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,002,086 (GRCm39) |
V314E |
probably null |
Het |
| Gzmf |
G |
T |
14: 56,443,443 (GRCm39) |
Y178* |
probably null |
Het |
| Hira |
C |
T |
16: 18,751,727 (GRCm39) |
P509S |
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,454,823 (GRCm39) |
N134S |
probably benign |
Het |
| Igfbp2 |
T |
A |
1: 72,863,958 (GRCm39) |
C74S |
probably damaging |
Het |
| Il24 |
A |
G |
1: 130,813,435 (GRCm39) |
L54P |
probably damaging |
Het |
| Ints10 |
T |
C |
8: 69,274,904 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
A |
G |
1: 135,318,311 (GRCm39) |
C700R |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 34,033,255 (GRCm39) |
Q469L |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 40,750,667 (GRCm39) |
I2966L |
probably benign |
Het |
| Lta |
C |
A |
17: 35,422,817 (GRCm39) |
V169L |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,933,964 (GRCm39) |
V3554A |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,392 (GRCm39) |
|
probably benign |
Het |
| Myorg |
T |
A |
4: 41,498,445 (GRCm39) |
N395I |
probably damaging |
Het |
| Or10d1 |
C |
G |
9: 39,484,549 (GRCm39) |
R2T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,968,954 (GRCm39) |
C176* |
probably null |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,299 (GRCm39) |
S93P |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,202,400 (GRCm39) |
|
probably null |
Het |
| Phf21a |
G |
T |
2: 92,181,953 (GRCm39) |
|
probably null |
Het |
| Pick1 |
T |
A |
15: 79,123,896 (GRCm39) |
M89K |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,946,152 (GRCm39) |
D558G |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,661 (GRCm39) |
D172G |
probably benign |
Het |
| Polr2a |
A |
C |
11: 69,627,803 (GRCm39) |
V1368G |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,109 (GRCm39) |
|
probably null |
Het |
| Pou2f1 |
T |
C |
1: 165,703,056 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,446,018 (GRCm39) |
V284A |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,784,639 (GRCm39) |
|
probably null |
Het |
| Scamp1 |
A |
C |
13: 94,344,735 (GRCm39) |
L202R |
possibly damaging |
Het |
| Snx25 |
C |
T |
8: 46,558,240 (GRCm39) |
V110I |
probably benign |
Het |
| Spata31e2 |
G |
A |
1: 26,724,506 (GRCm39) |
P225S |
probably benign |
Het |
| Susd6 |
T |
A |
12: 80,915,388 (GRCm39) |
H124Q |
possibly damaging |
Het |
| Tarm1 |
T |
C |
7: 3,537,720 (GRCm39) |
T248A |
probably benign |
Het |
| Tc2n |
A |
G |
12: 101,675,748 (GRCm39) |
M1T |
probably null |
Het |
| Tcerg1 |
C |
A |
18: 42,644,563 (GRCm39) |
|
probably null |
Het |
| Ticrr |
C |
A |
7: 79,343,716 (GRCm39) |
P1194T |
probably damaging |
Het |
| Trim31 |
T |
G |
17: 37,220,491 (GRCm39) |
V469G |
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,941 (GRCm39) |
E723G |
probably benign |
Het |
| Vmn1r177 |
C |
A |
7: 23,565,267 (GRCm39) |
S203I |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,268 (GRCm39) |
S203C |
probably damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,012,277 (GRCm39) |
L3* |
probably null |
Het |
| Wdr27 |
T |
A |
17: 15,152,796 (GRCm39) |
R104* |
probably null |
Het |
| Wnk1 |
A |
C |
6: 119,940,747 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
A |
G |
5: 138,453,281 (GRCm39) |
E88G |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,222,965 (GRCm39) |
L22Q |
probably damaging |
Het |
| Zfp788 |
T |
C |
7: 41,299,785 (GRCm39) |
F787S |
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 |
|
|
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'- TGTAAAGATTGGTACCAGAGTGGC -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- TACCAGAGTGGCTGCAGAC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation