Incidental Mutation 'R6646:Dnase1l1'
ID |
527997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnase1l1
|
Ensembl Gene |
ENSMUSG00000019088 |
Gene Name |
deoxyribonuclease 1-like 1 |
Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
MMRRC Submission |
044767-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6646 (G1)
|
Quality Score |
221.999 |
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]
[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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (41/41) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
G |
T |
2: 163,577,343 (GRCm39) |
N48K |
probably benign |
Het |
Aldh1a7 |
C |
T |
19: 20,677,275 (GRCm39) |
A449T |
possibly damaging |
Het |
Arhgef28 |
A |
G |
13: 98,076,002 (GRCm39) |
V1344A |
probably benign |
Het |
Carmil3 |
A |
T |
14: 55,745,387 (GRCm39) |
E1371D |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,038 (GRCm39) |
D307G |
probably damaging |
Het |
Dennd6b |
G |
T |
15: 89,070,387 (GRCm39) |
F427L |
probably damaging |
Het |
Doc2a |
G |
A |
7: 126,450,791 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,307,888 (GRCm39) |
T6503A |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,696,322 (GRCm39) |
I922K |
probably damaging |
Het |
Gbp9 |
A |
G |
5: 105,230,769 (GRCm39) |
I385T |
probably benign |
Het |
Gipc2 |
A |
T |
3: 151,799,838 (GRCm39) |
D297E |
possibly damaging |
Het |
Krt6b |
T |
A |
15: 101,585,649 (GRCm39) |
Q428L |
probably damaging |
Het |
Loxl4 |
T |
C |
19: 42,587,220 (GRCm39) |
D625G |
probably damaging |
Het |
Lrrn2 |
C |
T |
1: 132,866,794 (GRCm39) |
P620S |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,293,870 (GRCm39) |
V875A |
possibly damaging |
Het |
Nebl |
T |
C |
2: 17,381,496 (GRCm39) |
T727A |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,973,544 (GRCm39) |
D1929G |
possibly damaging |
Het |
Pard3b |
T |
C |
1: 62,200,280 (GRCm39) |
V273A |
probably benign |
Het |
Pcdhb7 |
T |
A |
18: 37,477,027 (GRCm39) |
V721E |
possibly damaging |
Het |
Plaa |
A |
T |
4: 94,478,215 (GRCm39) |
H82Q |
probably benign |
Het |
Plcd1 |
T |
A |
9: 118,904,100 (GRCm39) |
Y278F |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,937,895 (GRCm39) |
H1214N |
probably benign |
Het |
Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
Rela |
T |
G |
19: 5,697,132 (GRCm39) |
D446E |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,610,612 (GRCm39) |
I156V |
probably benign |
Het |
Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
Scx |
C |
A |
15: 76,342,121 (GRCm39) |
T107N |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,797,974 (GRCm39) |
K203I |
possibly damaging |
Het |
Slc16a6 |
C |
T |
11: 109,343,988 (GRCm39) |
M518I |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,313,993 (GRCm39) |
G940R |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,132,664 (GRCm39) |
E115D |
unknown |
Het |
Synm |
A |
T |
7: 67,384,875 (GRCm39) |
I487K |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,996,912 (GRCm39) |
|
probably null |
Het |
Vmn2r99 |
T |
G |
17: 19,600,293 (GRCm39) |
L439R |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,838,247 (GRCm39) |
L52Q |
probably damaging |
Het |
Zswim2 |
T |
A |
2: 83,746,128 (GRCm39) |
R437* |
probably null |
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 |
|
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 |
|
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'- ATTGGTACCAGAGTGGCTGC -3'
(R):5'- CTTTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- CAACATCATTCCATTATACCTTACCC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
Posted On |
2018-07-24 |