Incidental Mutation 'R5418:Dnase1l1'
| ID |
427894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1l1
|
| Ensembl Gene |
ENSMUSG00000019088 |
| Gene Name |
deoxyribonuclease 1-like 1 |
| Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
| MMRRC Submission |
042986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5418 (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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (81/82) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,244,738 (GRCm39) |
S205P |
probably damaging |
Het |
| Abcc1 |
T |
C |
16: 14,278,996 (GRCm39) |
V1102A |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
| Acoxl |
T |
A |
2: 127,719,722 (GRCm39) |
M161K |
probably benign |
Het |
| Adamts4 |
T |
A |
1: 171,080,143 (GRCm39) |
V35E |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,894 (GRCm39) |
S614G |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,567,427 (GRCm39) |
I5249L |
probably benign |
Het |
| Agps |
A |
G |
2: 75,689,248 (GRCm39) |
T252A |
probably damaging |
Het |
| Alms1-ps1 |
G |
A |
6: 85,732,584 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd24 |
T |
A |
10: 81,480,776 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,733 (GRCm39) |
Q218R |
possibly damaging |
Het |
| Bin2 |
T |
C |
15: 100,547,027 (GRCm39) |
Y232C |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,002,120 (GRCm39) |
Y331H |
probably damaging |
Het |
| Ccr10 |
C |
T |
11: 101,064,904 (GRCm39) |
V209M |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,791,810 (GRCm39) |
D371V |
possibly damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,931 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
A |
G |
5: 109,704,899 (GRCm39) |
V104A |
probably benign |
Het |
| Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,281,935 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,985,810 (GRCm39) |
E1422D |
probably benign |
Het |
| Efcab11 |
A |
G |
12: 99,821,877 (GRCm39) |
L80S |
possibly damaging |
Het |
| Emc8 |
G |
A |
8: 121,385,342 (GRCm39) |
T130M |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 27,688,467 (GRCm39) |
M196V |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,622,061 (GRCm39) |
T13M |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,203,966 (GRCm39) |
K423E |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,784,738 (GRCm39) |
G266D |
probably damaging |
Het |
| Fndc4 |
A |
T |
5: 31,451,978 (GRCm39) |
S146R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,079,935 (GRCm39) |
|
probably null |
Het |
| Glrx2 |
C |
A |
1: 143,615,446 (GRCm39) |
S16R |
possibly damaging |
Het |
| Gm26526 |
T |
G |
7: 39,238,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
C |
T |
2: 34,898,195 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,787,313 (GRCm39) |
C1695R |
probably damaging |
Het |
| Hic1 |
A |
G |
11: 75,057,425 (GRCm39) |
|
probably null |
Het |
| Igkv4-92 |
A |
T |
6: 68,732,564 (GRCm39) |
V5E |
possibly damaging |
Het |
| Irs1 |
G |
A |
1: 82,266,491 (GRCm39) |
T575I |
probably damaging |
Het |
| Kcp |
A |
T |
6: 29,504,283 (GRCm39) |
Y143* |
probably null |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klra6 |
T |
A |
6: 129,990,393 (GRCm39) |
L239F |
probably damaging |
Het |
| Lhx6 |
A |
G |
2: 35,977,378 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
G |
A |
3: 30,696,923 (GRCm39) |
P116S |
possibly damaging |
Het |
| Map3k9 |
T |
A |
12: 81,790,591 (GRCm39) |
K321* |
probably null |
Het |
| Mapk14 |
T |
C |
17: 28,960,817 (GRCm39) |
V196A |
possibly damaging |
Het |
| Matcap2 |
G |
T |
9: 22,343,066 (GRCm39) |
R187L |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,732,600 (GRCm39) |
S627P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,553,410 (GRCm39) |
Y2631N |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,524,035 (GRCm39) |
V153A |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,552,343 (GRCm39) |
I37M |
probably benign |
Het |
| Pax6 |
A |
T |
2: 105,521,910 (GRCm39) |
D175V |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,213,519 (GRCm39) |
L1793P |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,140,506 (GRCm39) |
V404A |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,050,694 (GRCm39) |
Y421H |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,612,961 (GRCm39) |
V3173G |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,599,840 (GRCm39) |
I49N |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,699 (GRCm39) |
V400E |
probably damaging |
Het |
| Rbm11 |
A |
C |
16: 75,393,423 (GRCm39) |
T40P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,227,634 (GRCm39) |
Y227H |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Sema3f |
A |
G |
9: 107,569,820 (GRCm39) |
Y70H |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,029,151 (GRCm39) |
E505K |
possibly damaging |
Het |
| Slc25a3 |
T |
C |
10: 90,955,398 (GRCm39) |
I147M |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,760,280 (GRCm38) |
S572T |
probably benign |
Het |
| Smarcal1 |
C |
T |
1: 72,638,068 (GRCm39) |
P501S |
probably benign |
Het |
| Sox7 |
C |
T |
14: 64,185,396 (GRCm39) |
T144M |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,797,214 (GRCm39) |
F304S |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,263,517 (GRCm39) |
F46L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,832,518 (GRCm39) |
E113K |
probably damaging |
Het |
| Vmn1r232 |
T |
A |
17: 21,134,378 (GRCm39) |
Y74F |
possibly damaging |
Het |
| Vmn2r102 |
C |
T |
17: 19,914,415 (GRCm39) |
T660I |
probably damaging |
Het |
| Zdhhc3 |
A |
G |
9: 122,909,456 (GRCm39) |
M234T |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,307,805 (GRCm39) |
L173H |
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 |
|
|
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 |
|
|
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'- AAGATTGGTACCAGAGTGGCTG -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- TACCAGAGTGGCTGCAGAC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation