Incidental Mutation 'R4982:Dnase1l1'
| ID |
384962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l1
|
| Ensembl Gene |
ENSMUSG00000019088 |
| Gene Name |
deoxyribonuclease 1-like 1 |
| Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4982 (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 |
Homozygous |
| 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: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,242,348 (GRCm39) |
I1404L |
possibly damaging |
Het |
| Adra1b |
A |
G |
11: 43,726,057 (GRCm39) |
S287P |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,952,406 (GRCm39) |
A1280S |
possibly damaging |
Het |
| Bbip1 |
T |
C |
19: 53,920,639 (GRCm39) |
|
probably null |
Het |
| Bbs2 |
A |
G |
8: 94,808,982 (GRCm39) |
|
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,932,031 (GRCm39) |
C180* |
probably null |
Het |
| Bltp3a |
T |
C |
17: 28,105,580 (GRCm39) |
F702S |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,977,816 (GRCm39) |
V1166A |
probably benign |
Het |
| Bora |
C |
T |
14: 99,284,788 (GRCm39) |
P13S |
probably damaging |
Het |
| C2cd4c |
T |
C |
10: 79,449,075 (GRCm39) |
E24G |
probably benign |
Het |
| Ccne1 |
A |
T |
7: 37,799,996 (GRCm39) |
I196N |
probably damaging |
Het |
| Chsy3 |
C |
T |
18: 59,542,647 (GRCm39) |
S595L |
probably benign |
Het |
| Chsy3 |
T |
A |
18: 59,542,839 (GRCm39) |
I659N |
possibly damaging |
Het |
| Cntrob |
T |
A |
11: 69,202,188 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
G |
A |
1: 45,428,618 (GRCm39) |
P983S |
possibly damaging |
Het |
| Crat |
T |
A |
2: 30,297,148 (GRCm39) |
|
probably null |
Het |
| Ctnnbl1 |
C |
T |
2: 157,678,473 (GRCm39) |
H359Y |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,732 (GRCm39) |
V83A |
possibly damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,593,902 (GRCm39) |
S488P |
possibly damaging |
Het |
| Dmrta1 |
T |
C |
4: 89,576,801 (GRCm39) |
C86R |
probably damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,179,505 (GRCm39) |
|
probably null |
Het |
| Fam222b |
T |
C |
11: 78,045,569 (GRCm39) |
C249R |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,531,719 (GRCm39) |
|
probably benign |
Het |
| Fes |
T |
C |
7: 80,036,952 (GRCm39) |
Y44C |
probably damaging |
Het |
| Gimap6 |
A |
G |
6: 48,684,933 (GRCm39) |
V51A |
probably benign |
Het |
| Gpr75 |
C |
T |
11: 30,841,463 (GRCm39) |
L123F |
possibly damaging |
Het |
| Gpr75 |
C |
A |
11: 30,841,462 (GRCm39) |
H122Q |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,774,762 (GRCm39) |
S212P |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,665,512 (GRCm39) |
H1041R |
probably benign |
Het |
| Ifna5 |
A |
G |
4: 88,753,861 (GRCm39) |
N34D |
probably damaging |
Het |
| Ift140 |
A |
T |
17: 25,255,968 (GRCm39) |
H221L |
probably damaging |
Het |
| Igsf3 |
T |
C |
3: 101,342,983 (GRCm39) |
V540A |
probably benign |
Het |
| Il10ra |
A |
G |
9: 45,180,357 (GRCm39) |
L5S |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,197,152 (GRCm39) |
D282E |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,900,539 (GRCm39) |
H3138Q |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 16,046,940 (GRCm39) |
T1689A |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,831,694 (GRCm39) |
L1671M |
probably damaging |
Het |
| Mpped1 |
T |
C |
15: 83,720,528 (GRCm39) |
F71S |
probably damaging |
Het |
| Mtpap |
C |
A |
18: 4,396,332 (GRCm39) |
H541Q |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,363,193 (GRCm39) |
|
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,040 (GRCm39) |
I451T |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,210,224 (GRCm39) |
E1827V |
probably damaging |
Het |
| Or1j14 |
A |
T |
2: 36,417,409 (GRCm39) |
|
probably null |
Het |
| Or2h15 |
A |
T |
17: 38,441,468 (GRCm39) |
I205N |
probably damaging |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,107,855 (GRCm39) |
Y197* |
probably null |
Het |
| Or8b8 |
C |
A |
9: 37,808,811 (GRCm39) |
T37N |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,956,920 (GRCm39) |
R23H |
possibly damaging |
Het |
| Otud6b |
A |
G |
4: 14,815,607 (GRCm39) |
L261P |
probably damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,476 (GRCm39) |
N107D |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,729,308 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phtf1 |
T |
A |
3: 103,906,024 (GRCm39) |
S524T |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,703,197 (GRCm39) |
L913R |
probably damaging |
Het |
| Pld1 |
C |
A |
3: 28,085,447 (GRCm39) |
A201D |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,052 (GRCm39) |
Q103L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,093,255 (GRCm39) |
T284M |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,085,484 (GRCm39) |
I86V |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,102,857 (GRCm39) |
M201K |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,337,989 (GRCm39) |
S219P |
probably benign |
Het |
| Sp8 |
C |
T |
12: 118,812,160 (GRCm39) |
T5I |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,630,287 (GRCm39) |
N749D |
probably damaging |
Het |
| Tarm1 |
G |
C |
7: 3,537,612 (GRCm39) |
P284A |
probably damaging |
Het |
| Tbx15 |
A |
T |
3: 99,161,390 (GRCm39) |
E65V |
probably benign |
Het |
| Ticam1 |
T |
A |
17: 56,579,020 (GRCm39) |
H25L |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,640,674 (GRCm39) |
L170F |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,414,504 (GRCm39) |
*310W |
probably null |
Het |
| Tsks |
C |
T |
7: 44,593,418 (GRCm39) |
T128I |
possibly damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,494 (GRCm39) |
N44K |
possibly damaging |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,847 (GRCm39) |
I41T |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 45,004,532 (GRCm39) |
N1102S |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
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 |
|
|
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 |
2016-05-10 |
Incidental Mutation