Incidental Mutation 'R4862:Dnase1l1'
| ID |
374613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l1
|
| Ensembl Gene |
ENSMUSG00000019088 |
| Gene Name |
deoxyribonuclease 1-like 1 |
| Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
| MMRRC Submission |
043260-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4862 (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: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,747,083 (GRCm39) |
T167A |
probably benign |
Het |
| Aox1 |
T |
G |
1: 58,134,316 (GRCm39) |
D1096E |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,122,721 (GRCm39) |
D1034V |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,097,178 (GRCm39) |
P1307S |
possibly damaging |
Het |
| Chaf1b |
T |
A |
16: 93,684,022 (GRCm39) |
L91Q |
probably damaging |
Het |
| Copb2 |
G |
T |
9: 98,463,320 (GRCm39) |
D512Y |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,988,981 (GRCm39) |
E127G |
unknown |
Het |
| Dhx16 |
A |
G |
17: 36,194,154 (GRCm39) |
I422V |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,098,771 (GRCm39) |
V2043I |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,147,717 (GRCm39) |
V971A |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,149 (GRCm39) |
S573P |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,633,682 (GRCm39) |
H448R |
probably benign |
Het |
| Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
| Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
| Igkv6-13 |
C |
A |
6: 70,434,765 (GRCm39) |
V27L |
probably benign |
Het |
| Krt28 |
A |
T |
11: 99,255,936 (GRCm39) |
I441N |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,298,669 (GRCm39) |
D286E |
probably damaging |
Het |
| Mapkap1 |
A |
G |
2: 34,513,442 (GRCm39) |
Y448C |
probably damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,489 (GRCm39) |
Y173H |
possibly damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,876 (GRCm39) |
V260E |
probably damaging |
Het |
| Ppt1 |
A |
C |
4: 122,738,242 (GRCm39) |
N89T |
probably damaging |
Het |
| Prss3b |
T |
G |
6: 41,009,345 (GRCm39) |
D163A |
possibly damaging |
Het |
| Ptgs1 |
G |
T |
2: 36,127,267 (GRCm39) |
R51L |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,204,520 (GRCm39) |
F277S |
possibly damaging |
Het |
| Smcr8 |
A |
G |
11: 60,668,897 (GRCm39) |
E15G |
probably benign |
Het |
| Tbce |
A |
G |
13: 14,173,004 (GRCm39) |
S476P |
possibly damaging |
Het |
| Tmem131l |
A |
T |
3: 83,805,517 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,495,534 (GRCm39) |
Y468H |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,878,664 (GRCm39) |
L117H |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,822,860 (GRCm39) |
|
probably null |
Het |
| Zfa-ps |
G |
T |
10: 52,419,192 (GRCm39) |
|
noncoding transcript |
Het |
| Zfat |
C |
A |
15: 68,051,959 (GRCm39) |
A605S |
probably benign |
Het |
| Zfp853 |
T |
A |
5: 143,275,416 (GRCm39) |
Q68L |
unknown |
Het |
| Zfyve16 |
G |
A |
13: 92,644,764 (GRCm39) |
T1146I |
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 |
|
|
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'- GATTGGTACCAGAGTGGCTG -3'
(R):5'- AACCTGGATTCCTTTGGAGGG -3'
Sequencing Primer
(F):5'- TACCAGAGTGGCTGCAGAC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation