Incidental Mutation 'R5137:Dnase1l1'
ID |
396252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnase1l1
|
Ensembl Gene |
ENSMUSG00000019088 |
Gene Name |
deoxyribonuclease 1-like 1 |
Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
MMRRC Submission |
042723-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R5137 (G1)
|
Quality Score |
222 |
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
C |
3: 36,123,920 (GRCm39) |
V75A |
probably benign |
Het |
Ace |
G |
C |
11: 105,865,652 (GRCm39) |
W628C |
probably damaging |
Het |
Adh4 |
T |
C |
3: 138,127,996 (GRCm39) |
S141P |
probably benign |
Het |
Apob |
T |
C |
12: 8,061,384 (GRCm39) |
Y3256H |
possibly damaging |
Het |
B3galnt1 |
G |
T |
3: 69,482,282 (GRCm39) |
N326K |
probably benign |
Het |
Bltp3a |
T |
G |
17: 28,095,964 (GRCm39) |
|
probably null |
Het |
Catsperb |
T |
C |
12: 101,516,070 (GRCm39) |
F569L |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,732,478 (GRCm39) |
I225V |
probably benign |
Het |
Cox5b |
A |
G |
1: 36,731,510 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
C |
10: 43,834,332 (GRCm39) |
D1953G |
probably damaging |
Het |
Dnaaf5 |
C |
T |
5: 139,167,215 (GRCm39) |
T707M |
probably damaging |
Het |
Ebf1 |
G |
A |
11: 44,882,295 (GRCm39) |
R409Q |
probably damaging |
Het |
Eef2k |
G |
A |
7: 120,484,645 (GRCm39) |
A256T |
probably damaging |
Het |
Eef2k |
C |
A |
7: 120,484,646 (GRCm39) |
A256D |
probably damaging |
Het |
Evl |
C |
G |
12: 108,647,781 (GRCm39) |
T294S |
probably benign |
Het |
Eya2 |
T |
C |
2: 165,573,548 (GRCm39) |
Y288H |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,509,014 (GRCm39) |
|
probably null |
Het |
Fam171a1 |
T |
C |
2: 3,226,426 (GRCm39) |
Y395H |
probably benign |
Het |
Gas2l3 |
C |
A |
10: 89,249,837 (GRCm39) |
R427L |
probably damaging |
Het |
Gli2 |
T |
A |
1: 118,783,233 (GRCm39) |
I91F |
probably damaging |
Het |
Gm4884 |
T |
C |
7: 40,692,318 (GRCm39) |
S96P |
probably damaging |
Het |
Gprc5d |
T |
A |
6: 135,093,031 (GRCm39) |
D292V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,355,505 (GRCm39) |
K2252R |
probably benign |
Het |
Il1rl1 |
A |
T |
1: 40,489,285 (GRCm39) |
M346L |
probably benign |
Het |
Kcna5 |
A |
T |
6: 126,510,946 (GRCm39) |
V394D |
probably damaging |
Het |
Kcng4 |
A |
T |
8: 120,352,617 (GRCm39) |
M431K |
possibly damaging |
Het |
Kifbp |
A |
T |
10: 62,414,020 (GRCm39) |
V46E |
probably damaging |
Het |
Large1 |
A |
G |
8: 73,774,937 (GRCm39) |
F258L |
possibly damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,852,662 (GRCm39) |
C1001S |
probably damaging |
Het |
Micu1 |
A |
G |
10: 59,663,054 (GRCm39) |
Q328R |
probably benign |
Het |
Mmp11 |
G |
A |
10: 75,761,290 (GRCm39) |
P437S |
probably damaging |
Het |
Msh6 |
T |
A |
17: 88,287,716 (GRCm39) |
F119I |
possibly damaging |
Het |
Myo6 |
A |
G |
9: 80,149,531 (GRCm39) |
E159G |
probably damaging |
Het |
Negr1 |
T |
A |
3: 156,721,833 (GRCm39) |
Y136N |
probably damaging |
Het |
Nol9 |
T |
A |
4: 152,130,428 (GRCm39) |
C321S |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,043,378 (GRCm39) |
F551S |
probably benign |
Het |
Nup153 |
C |
A |
13: 46,837,629 (GRCm39) |
G1198C |
probably damaging |
Het |
Omd |
T |
C |
13: 49,743,552 (GRCm39) |
S201P |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
Or4c120 |
C |
A |
2: 89,000,744 (GRCm39) |
V271F |
probably benign |
Het |
Or51l14 |
A |
G |
7: 103,100,919 (GRCm39) |
Y125C |
probably damaging |
Het |
Or51l14 |
C |
A |
7: 103,100,920 (GRCm39) |
Y125* |
probably null |
Het |
Oxct1 |
G |
T |
15: 4,064,832 (GRCm39) |
A57S |
probably benign |
Het |
Pcdhga7 |
T |
G |
18: 37,850,433 (GRCm39) |
S813R |
probably damaging |
Het |
Pcmtd2 |
A |
T |
2: 181,496,787 (GRCm39) |
I255F |
possibly damaging |
Het |
Pdk1 |
T |
G |
2: 71,713,913 (GRCm39) |
M186R |
possibly damaging |
Het |
Pelp1 |
T |
C |
11: 70,285,925 (GRCm39) |
T648A |
probably damaging |
Het |
Phldb2 |
A |
T |
16: 45,628,621 (GRCm39) |
S570R |
possibly damaging |
Het |
Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,299,992 (GRCm39) |
T270A |
possibly damaging |
Het |
Reln |
C |
T |
5: 22,160,179 (GRCm39) |
G2130D |
probably damaging |
Het |
Rims1 |
A |
T |
1: 22,358,844 (GRCm39) |
Y663* |
probably null |
Het |
Rit2 |
T |
C |
18: 31,286,817 (GRCm39) |
T123A |
probably benign |
Het |
Rmdn2 |
A |
T |
17: 79,975,418 (GRCm39) |
E302D |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,801,283 (GRCm39) |
E827G |
possibly damaging |
Het |
Siglec1 |
C |
T |
2: 130,923,264 (GRCm39) |
G494R |
probably damaging |
Het |
Slc16a14 |
T |
A |
1: 84,890,318 (GRCm39) |
Y329F |
probably damaging |
Het |
Slc35d1 |
A |
T |
4: 103,071,978 (GRCm39) |
L8Q |
possibly damaging |
Het |
Smpdl3a |
C |
T |
10: 57,677,163 (GRCm39) |
S57L |
possibly damaging |
Het |
Snx9 |
T |
C |
17: 5,978,528 (GRCm39) |
V566A |
probably damaging |
Het |
Spaca1 |
A |
T |
4: 34,029,095 (GRCm39) |
I126N |
probably damaging |
Het |
Spred1 |
T |
G |
2: 116,994,052 (GRCm39) |
I94S |
probably damaging |
Het |
Tardbp |
T |
C |
4: 148,706,494 (GRCm39) |
D105G |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,182,326 (GRCm39) |
S1213G |
probably benign |
Het |
Trak1 |
A |
T |
9: 121,196,121 (GRCm39) |
|
probably benign |
Het |
Trem3 |
G |
A |
17: 48,556,756 (GRCm39) |
V76M |
possibly damaging |
Het |
Ttc13 |
G |
T |
8: 125,421,674 (GRCm39) |
Y250* |
probably null |
Het |
Ttll5 |
T |
G |
12: 85,969,819 (GRCm39) |
S714R |
possibly damaging |
Het |
Ube2l6 |
T |
G |
2: 84,633,220 (GRCm39) |
|
probably null |
Het |
Ubr3 |
T |
C |
2: 69,803,679 (GRCm39) |
S1090P |
probably damaging |
Het |
Vezt |
T |
C |
10: 93,806,372 (GRCm39) |
T680A |
probably benign |
Het |
Virma |
A |
G |
4: 11,546,297 (GRCm39) |
K1762E |
probably damaging |
Het |
Vps53 |
A |
G |
11: 76,057,074 (GRCm39) |
S57P |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,236,822 (GRCm39) |
D130Y |
probably damaging |
Het |
Vwa8 |
T |
G |
14: 79,302,342 (GRCm39) |
F1004V |
probably damaging |
Het |
Zfp35 |
A |
T |
18: 24,137,194 (GRCm39) |
K513* |
probably null |
Het |
Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
C |
A |
18: 13,978,505 (GRCm39) |
C636F |
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 |
|
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'- ATTGGTACCAGAGTGGCTGC -3'
(R):5'- AACCTGGATTCCTTTGGAGG -3'
Sequencing Primer
(F):5'- CAACATCATTCCATTATACCTTACCC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
Posted On |
2016-06-21 |