Incidental Mutation 'R4814:Dnase1l1'
| ID |
369685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l1
|
| Ensembl Gene |
ENSMUSG00000019088 |
| Gene Name |
deoxyribonuclease 1-like 1 |
| Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
| MMRRC Submission |
042432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4814 (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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
G |
16: 56,471,116 (GRCm39) |
V587G |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,547,632 (GRCm39) |
D1002G |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,254,687 (GRCm39) |
I385L |
probably benign |
Het |
| Adra1a |
C |
G |
14: 66,875,481 (GRCm39) |
A152G |
probably benign |
Het |
| Agbl4 |
A |
T |
4: 111,513,565 (GRCm39) |
Y437F |
possibly damaging |
Het |
| Amt |
A |
G |
9: 108,176,979 (GRCm39) |
T196A |
probably benign |
Het |
| Apobr |
G |
A |
7: 126,185,859 (GRCm39) |
V457M |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,956,667 (GRCm39) |
K3563E |
probably damaging |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Chrna9 |
T |
C |
5: 66,134,492 (GRCm39) |
W448R |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,427,466 (GRCm39) |
D224V |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,405 (GRCm39) |
R643L |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,586,896 (GRCm39) |
H200R |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,986,898 (GRCm39) |
R3182S |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,819,354 (GRCm39) |
C295R |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,281,173 (GRCm39) |
N394K |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,915,322 (GRCm39) |
|
probably null |
Het |
| Gckr |
C |
T |
5: 31,455,644 (GRCm39) |
Q66* |
probably null |
Het |
| Gm26996 |
A |
T |
6: 130,556,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9386 |
C |
A |
17: 81,246,141 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr6 |
A |
T |
10: 40,947,258 (GRCm39) |
M108K |
possibly damaging |
Het |
| H2-Q10 |
A |
C |
17: 35,784,481 (GRCm39) |
|
probably benign |
Het |
| Hpf1 |
A |
G |
8: 61,346,841 (GRCm39) |
D52G |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,279,377 (GRCm39) |
R989G |
probably damaging |
Het |
| Kat7 |
A |
G |
11: 95,193,949 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
G |
T |
3: 89,570,031 (GRCm39) |
V615F |
probably damaging |
Het |
| Lgi1 |
G |
T |
19: 38,289,326 (GRCm39) |
|
probably null |
Het |
| Lrrtm4 |
A |
T |
6: 80,000,117 (GRCm39) |
T510S |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,128,114 (GRCm39) |
|
probably null |
Het |
| Mapt |
T |
C |
11: 104,189,786 (GRCm39) |
V252A |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,826,260 (GRCm39) |
S223T |
possibly damaging |
Het |
| Meig1 |
T |
A |
2: 3,412,959 (GRCm39) |
I21L |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,113,684 (GRCm39) |
Y447H |
probably damaging |
Het |
| Mrpl46 |
A |
C |
7: 78,430,343 (GRCm39) |
N142K |
probably benign |
Het |
| Myo18a |
C |
A |
11: 77,750,062 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
| Oas1h |
C |
A |
5: 121,000,728 (GRCm39) |
H113N |
probably damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,245 (GRCm39) |
T203S |
possibly damaging |
Het |
| Or7g18 |
A |
G |
9: 18,787,213 (GRCm39) |
I197V |
probably benign |
Het |
| Or7g27 |
C |
T |
9: 19,250,476 (GRCm39) |
T240M |
probably damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,817 (GRCm39) |
L144F |
possibly damaging |
Het |
| Orc3 |
T |
A |
4: 34,572,450 (GRCm39) |
|
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,329,980 (GRCm39) |
L65F |
probably damaging |
Het |
| Papola |
C |
A |
12: 105,765,912 (GRCm39) |
P4Q |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,645,022 (GRCm39) |
N151S |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,080,032 (GRCm39) |
H82Q |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,768,923 (GRCm39) |
T496M |
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,372,863 (GRCm39) |
Q1466P |
probably damaging |
Het |
| Serpina1a |
T |
C |
12: 103,821,022 (GRCm39) |
T342A |
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,231,470 (GRCm39) |
T36A |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Slc35g1 |
A |
G |
19: 38,391,275 (GRCm39) |
S186G |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,350,899 (GRCm39) |
D126E |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,718,763 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
C |
A |
10: 57,687,337 (GRCm39) |
T355K |
probably damaging |
Het |
| Sntg2 |
A |
G |
12: 30,423,267 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,284 (GRCm39) |
M152L |
probably benign |
Het |
| Spats2l |
G |
T |
1: 57,977,085 (GRCm39) |
A308S |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,777,323 (GRCm39) |
|
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,912,504 (GRCm39) |
C478* |
probably null |
Het |
| Tekt5 |
A |
G |
16: 10,200,771 (GRCm39) |
L250P |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 128,061,328 (GRCm39) |
I425L |
probably benign |
Het |
| Tmem174 |
T |
A |
13: 98,773,456 (GRCm39) |
I125F |
probably damaging |
Het |
| Trafd1 |
T |
G |
5: 121,512,079 (GRCm39) |
I404L |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,636,373 (GRCm39) |
P500S |
possibly damaging |
Het |
| Trpm6 |
T |
A |
19: 18,839,576 (GRCm39) |
N1616K |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,715 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,567 (GRCm39) |
I706F |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,090 (GRCm39) |
Q149R |
possibly 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 |
|
|
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 |
|
|
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'- AAGATTGGTACCAGAGTGGCTG -3'
(R):5'- CTTTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- TACCAGAGTGGCTGCAGAC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation