Incidental Mutation 'R4872:Dnase1l1'
| ID |
376704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l1
|
| Ensembl Gene |
ENSMUSG00000019088 |
| Gene Name |
deoxyribonuclease 1-like 1 |
| Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
| MMRRC Submission |
042482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4872 (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: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (81/83) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
C |
A |
15: 91,075,514 (GRCm39) |
V100L |
probably benign |
Het |
| Acad11 |
G |
A |
9: 103,963,465 (GRCm39) |
|
probably benign |
Het |
| Actb |
C |
T |
5: 142,891,307 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
G |
A |
7: 140,687,117 (GRCm39) |
A374V |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,773,103 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
G |
T |
17: 28,109,110 (GRCm39) |
D1110Y |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,155,551 (GRCm39) |
L350Q |
probably damaging |
Het |
| Cd27 |
T |
A |
6: 125,211,281 (GRCm39) |
|
probably null |
Het |
| Cd72 |
A |
G |
4: 43,449,563 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
A |
T |
14: 59,801,973 (GRCm39) |
S516T |
probably benign |
Het |
| Chst5 |
T |
A |
8: 112,617,192 (GRCm39) |
I143F |
possibly damaging |
Het |
| Col20a1 |
T |
C |
2: 180,639,156 (GRCm39) |
V452A |
possibly damaging |
Het |
| Cox11 |
C |
A |
11: 90,535,229 (GRCm39) |
Q227K |
probably benign |
Het |
| Cpa6 |
A |
G |
1: 10,665,843 (GRCm39) |
|
probably null |
Het |
| Dpm2 |
T |
C |
2: 32,461,203 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Frem1 |
A |
C |
4: 82,881,387 (GRCm39) |
N1273K |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,317,704 (GRCm39) |
|
probably null |
Het |
| Gm10306 |
G |
T |
4: 94,445,069 (GRCm39) |
|
probably benign |
Het |
| Gm5565 |
T |
C |
5: 146,094,913 (GRCm39) |
T278A |
probably benign |
Het |
| Gm8180 |
A |
G |
14: 44,019,802 (GRCm39) |
I40T |
probably benign |
Het |
| Iah1 |
T |
C |
12: 21,367,426 (GRCm39) |
V44A |
probably benign |
Het |
| Iqgap3 |
C |
T |
3: 88,020,435 (GRCm39) |
P360S |
probably damaging |
Het |
| Klhl28 |
T |
A |
12: 65,003,896 (GRCm39) |
I206F |
possibly damaging |
Het |
| Krt13 |
A |
G |
11: 100,012,332 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,726,914 (GRCm39) |
D41V |
probably benign |
Het |
| Lrig2 |
C |
G |
3: 104,398,842 (GRCm39) |
V229L |
possibly damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,147,727 (GRCm39) |
T169I |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,014,649 (GRCm39) |
N1053S |
possibly damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mgat4c |
G |
C |
10: 102,224,599 (GRCm39) |
R271P |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,735,360 (GRCm39) |
N780S |
possibly damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,676 (GRCm39) |
T421A |
probably benign |
Het |
| Nat8f1 |
T |
C |
6: 85,887,295 (GRCm39) |
T222A |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,992 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
A |
5: 120,876,599 (GRCm39) |
D448V |
probably damaging |
Het |
| Or10al7 |
C |
A |
17: 38,366,467 (GRCm39) |
V6F |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,383 (GRCm39) |
C96S |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,772 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pgm2l1 |
T |
A |
7: 99,877,204 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pigp |
A |
T |
16: 94,166,309 (GRCm39) |
V133D |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,156,881 (GRCm39) |
D752N |
possibly damaging |
Het |
| Ppat |
T |
C |
5: 77,074,640 (GRCm39) |
K65E |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,125,314 (GRCm39) |
L616P |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,595,091 (GRCm39) |
S289P |
probably damaging |
Het |
| Rbm39 |
G |
A |
2: 156,019,266 (GRCm39) |
R31C |
possibly damaging |
Het |
| Rhbdf2 |
C |
A |
11: 116,492,771 (GRCm39) |
V417L |
probably benign |
Het |
| Rnf157 |
T |
A |
11: 116,246,298 (GRCm39) |
E255D |
possibly damaging |
Het |
| Rpl6l |
A |
T |
10: 110,962,304 (GRCm39) |
|
noncoding transcript |
Het |
| Sec24c |
A |
G |
14: 20,743,813 (GRCm39) |
D1006G |
probably damaging |
Het |
| Sh3bp1 |
G |
T |
15: 78,792,237 (GRCm39) |
A401S |
probably benign |
Het |
| Slc17a8 |
A |
T |
10: 89,412,367 (GRCm39) |
D539E |
probably benign |
Het |
| Slc38a9 |
T |
A |
13: 112,826,098 (GRCm39) |
S136R |
probably damaging |
Het |
| Smoc2 |
A |
C |
17: 14,589,295 (GRCm39) |
T255P |
probably benign |
Het |
| Smyd2 |
T |
C |
1: 189,628,847 (GRCm39) |
D152G |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,862,350 (GRCm39) |
V2328A |
probably damaging |
Het |
| Taar2 |
A |
G |
10: 23,816,591 (GRCm39) |
I44V |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,682,144 (GRCm39) |
K1251E |
probably benign |
Het |
| Thada |
G |
A |
17: 84,754,027 (GRCm39) |
L315F |
probably damaging |
Het |
| Trbv14 |
T |
C |
6: 41,112,259 (GRCm39) |
S19P |
probably benign |
Het |
| Ttc39c |
T |
C |
18: 12,820,173 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,524,527 (GRCm39) |
I395M |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,548,728 (GRCm39) |
E31891G |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,800,527 (GRCm39) |
V950A |
probably damaging |
Het |
| Usp9y |
T |
A |
Y: 1,307,920 (GRCm39) |
K2305N |
probably damaging |
Het |
| Vmn1r158 |
G |
A |
7: 22,490,179 (GRCm39) |
T10I |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r78 |
T |
A |
7: 86,603,916 (GRCm39) |
I698K |
possibly damaging |
Het |
| Vmn2r86 |
G |
T |
10: 130,289,460 (GRCm39) |
T145K |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,684,933 (GRCm39) |
V516A |
probably benign |
Het |
| Zfp654 |
A |
T |
16: 64,606,145 (GRCm39) |
S686T |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,502,111 (GRCm39) |
C55S |
probably benign |
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 |
|
|
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'- ATTGGTACCAGAGTGGCTGC -3'
(R):5'- CTTTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- CAACATCATTCCATTATACCTTACCC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation