Incidental Mutation 'R4691:Dnase1l1'
| ID |
354955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l1
|
| Ensembl Gene |
ENSMUSG00000019088 |
| Gene Name |
deoxyribonuclease 1-like 1 |
| Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
| MMRRC Submission |
041942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4691 (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: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (70/72) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,384,195 (GRCm39) |
R3882S |
probably damaging |
Het |
| Adamts2 |
G |
T |
11: 50,647,523 (GRCm39) |
V299F |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,159 (GRCm39) |
S65P |
probably benign |
Het |
| Ap4e1 |
T |
C |
2: 126,903,791 (GRCm39) |
C898R |
probably benign |
Het |
| Arel1 |
A |
T |
12: 84,977,023 (GRCm39) |
|
probably null |
Het |
| Bag6 |
T |
A |
17: 35,358,224 (GRCm39) |
V164D |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,975,874 (GRCm39) |
S769P |
possibly damaging |
Het |
| Cables1 |
C |
T |
18: 11,973,580 (GRCm39) |
Q240* |
probably null |
Het |
| Ccnb1-ps |
T |
A |
7: 41,755,516 (GRCm39) |
|
noncoding transcript |
Het |
| Ccz1 |
A |
T |
5: 143,928,380 (GRCm39) |
I390N |
possibly damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,642,891 (GRCm39) |
S434T |
possibly damaging |
Het |
| Ces1a |
T |
C |
8: 93,759,287 (GRCm39) |
H283R |
probably benign |
Het |
| Clca3b |
G |
A |
3: 144,544,853 (GRCm39) |
T378I |
probably benign |
Het |
| Cpne2 |
A |
T |
8: 95,284,849 (GRCm39) |
I342F |
probably damaging |
Het |
| Cyp2d9 |
A |
G |
15: 82,340,033 (GRCm39) |
D141G |
probably damaging |
Het |
| Ddias |
T |
A |
7: 92,508,024 (GRCm39) |
K630N |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,179,619 (GRCm39) |
T626A |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,875,186 (GRCm39) |
V554A |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,852,581 (GRCm39) |
T1880A |
probably damaging |
Het |
| Epop |
C |
T |
11: 97,519,719 (GRCm39) |
G130D |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,821,811 (GRCm39) |
L722P |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,015,966 (GRCm39) |
T334S |
probably benign |
Het |
| Ezr |
T |
C |
17: 7,026,961 (GRCm39) |
I5V |
probably benign |
Het |
| Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,143 (GRCm39) |
S134P |
probably damaging |
Het |
| Gcfc2 |
T |
A |
6: 81,918,408 (GRCm39) |
L366* |
probably null |
Het |
| Gins4 |
T |
A |
8: 23,727,075 (GRCm39) |
D6V |
probably benign |
Het |
| Grid1 |
A |
G |
14: 35,291,514 (GRCm39) |
H807R |
probably benign |
Het |
| H2-T22 |
GTTTT |
GTTT |
17: 36,352,462 (GRCm39) |
|
probably null |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,929 (GRCm39) |
Y51C |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,849,282 (GRCm39) |
Y901F |
probably damaging |
Het |
| Irf2 |
T |
A |
8: 47,299,222 (GRCm39) |
S339T |
probably damaging |
Het |
| Itgae |
G |
T |
11: 73,010,345 (GRCm39) |
G612* |
probably null |
Het |
| Kdr |
T |
C |
5: 76,105,259 (GRCm39) |
K1037R |
possibly damaging |
Het |
| Mro |
A |
T |
18: 74,006,397 (GRCm39) |
M115L |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,087,438 (GRCm39) |
E1098G |
probably damaging |
Het |
| Nkx2-1 |
T |
A |
12: 56,580,350 (GRCm39) |
M197L |
probably benign |
Het |
| Or7e165 |
T |
C |
9: 19,694,678 (GRCm39) |
I83T |
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,138,201 (GRCm39) |
F430L |
possibly damaging |
Het |
| Pcx |
T |
A |
19: 4,669,505 (GRCm39) |
V794E |
probably damaging |
Het |
| Pdgfd |
C |
T |
9: 6,288,556 (GRCm39) |
P70L |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,004,781 (GRCm39) |
Y521C |
probably damaging |
Het |
| Pou5f1 |
T |
A |
17: 35,817,028 (GRCm39) |
F11Y |
probably damaging |
Het |
| Prdm9 |
A |
G |
17: 15,773,640 (GRCm39) |
M252T |
probably benign |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Rad51ap1 |
A |
G |
6: 126,904,516 (GRCm39) |
S123P |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,336,514 (GRCm39) |
E418G |
probably damaging |
Het |
| Sos2 |
C |
T |
12: 69,663,102 (GRCm39) |
R631H |
probably damaging |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| St3gal2 |
C |
T |
8: 111,684,417 (GRCm39) |
T25I |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,882,851 (GRCm39) |
A521T |
probably benign |
Het |
| Syt7 |
T |
A |
19: 10,403,845 (GRCm39) |
L177Q |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,191,844 (GRCm39) |
Q863H |
possibly damaging |
Het |
| Tmem232 |
T |
C |
17: 65,572,237 (GRCm39) |
K585E |
possibly damaging |
Het |
| Trpc6 |
A |
C |
9: 8,652,979 (GRCm39) |
E595A |
probably damaging |
Het |
| Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,119 (GRCm39) |
L815* |
probably null |
Het |
| Vmn2r81 |
C |
T |
10: 79,129,211 (GRCm39) |
Q701* |
probably null |
Het |
| Vps13c |
T |
C |
9: 67,860,217 (GRCm39) |
V2811A |
possibly damaging |
Het |
| Vsig10l2 |
T |
C |
9: 35,428,158 (GRCm39) |
S106G |
possibly damaging |
Het |
| Zfp354a |
A |
G |
11: 50,961,064 (GRCm39) |
E425G |
probably damaging |
Het |
| Zfp617 |
A |
T |
8: 72,686,659 (GRCm39) |
T330S |
probably benign |
Het |
| Zfp663 |
G |
T |
2: 165,201,050 (GRCm39) |
|
probably benign |
Het |
| Zfp84 |
T |
C |
7: 29,476,505 (GRCm39) |
L399P |
probably damaging |
Het |
| Zfp869 |
A |
T |
8: 70,159,513 (GRCm39) |
C353* |
probably null |
Het |
| Zscan22 |
C |
T |
7: 12,640,488 (GRCm39) |
A85V |
probably benign |
Het |
|
| Other mutations in Dnase1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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'- TAAAGATTGGTACCAGAGTGGC -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- TACCAGAGTGGCTGCAGAC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation