Incidental Mutation 'IGL01585:Dbf4'
| ID |
93357 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dbf4
|
| Ensembl Gene |
ENSMUSG00000002297 |
| Gene Name |
DBF4 zinc finger |
| Synonyms |
Ask |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
8446973-8472716 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 8458492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002368]
[ENSMUST00000168500]
[ENSMUST00000171808]
[ENSMUST00000171808]
|
| AlphaFold |
Q9QZ41 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002368
|
| SMART Domains |
Protein: ENSMUSP00000002368
Gene: ENSMUSG00000002297
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
44 |
181 |
9e-85 |
BLAST |
|
low complexity region
|
182 |
204 |
N/A |
INTRINSIC |
|
ZnF_DBF
|
287 |
334 |
7.09e-28 |
SMART |
|
low complexity region
|
643 |
657 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166364
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168500
|
| SMART Domains |
Protein: ENSMUSP00000132985
Gene: ENSMUSG00000002297
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRCT
|
41 |
179 |
2e-7 |
PFAM |
|
low complexity region
|
182 |
204 |
N/A |
INTRINSIC |
|
PDB:4F9C|B
|
210 |
308 |
2e-42 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171808
|
| SMART Domains |
Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
44 |
181 |
9e-85 |
BLAST |
|
low complexity region
|
182 |
204 |
N/A |
INTRINSIC |
|
ZnF_DBF
|
288 |
335 |
7.09e-28 |
SMART |
|
low complexity region
|
644 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171808
|
| SMART Domains |
Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
44 |
181 |
9e-85 |
BLAST |
|
low complexity region
|
182 |
204 |
N/A |
INTRINSIC |
|
ZnF_DBF
|
288 |
335 |
7.09e-28 |
SMART |
|
low complexity region
|
644 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197442
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,359,045 (GRCm39) |
D587G |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,117,143 (GRCm39) |
N1003K |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,462 (GRCm39) |
D847G |
probably benign |
Het |
| Atp5f1a |
T |
C |
18: 77,868,758 (GRCm39) |
V417A |
possibly damaging |
Het |
| Avp |
A |
C |
2: 130,422,629 (GRCm39) |
S159A |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,462,981 (GRCm39) |
A915D |
possibly damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,370,462 (GRCm39) |
R1185H |
possibly damaging |
Het |
| Cdcp3 |
T |
G |
7: 130,846,487 (GRCm39) |
V637G |
probably damaging |
Het |
| Clrn2 |
A |
G |
5: 45,617,500 (GRCm39) |
I124V |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,595,289 (GRCm39) |
K469* |
probably null |
Het |
| Cxcl1 |
T |
A |
5: 91,039,583 (GRCm39) |
N70K |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,202,030 (GRCm39) |
V1281E |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,891,305 (GRCm39) |
Q523L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,445,954 (GRCm39) |
K403R |
probably benign |
Het |
| Gpr22 |
A |
G |
12: 31,759,336 (GRCm39) |
I262T |
probably benign |
Het |
| Gstm3 |
G |
T |
3: 107,873,474 (GRCm39) |
Q166K |
probably benign |
Het |
| Ilf2 |
T |
A |
3: 90,391,849 (GRCm39) |
N183K |
probably damaging |
Het |
| Ip6k2 |
T |
A |
9: 108,673,512 (GRCm39) |
L40Q |
probably damaging |
Het |
| Itga8 |
A |
T |
2: 12,165,123 (GRCm39) |
|
probably benign |
Het |
| Lbr |
T |
A |
1: 181,653,208 (GRCm39) |
R70* |
probably null |
Het |
| Lilra6 |
T |
C |
7: 3,917,498 (GRCm39) |
T166A |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,467,846 (GRCm39) |
K1063E |
probably damaging |
Het |
| Msi1 |
T |
C |
5: 115,568,949 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,792,197 (GRCm39) |
V408A |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,306,538 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,891 (GRCm39) |
|
probably null |
Het |
| Prrt4 |
A |
G |
6: 29,177,689 (GRCm39) |
S27P |
probably benign |
Het |
| Psmg1 |
G |
A |
16: 95,789,221 (GRCm39) |
T112I |
possibly damaging |
Het |
| Rfx7 |
T |
G |
9: 72,524,343 (GRCm39) |
I511S |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,031,198 (GRCm39) |
T481M |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,462,336 (GRCm39) |
D397G |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,311,578 (GRCm39) |
Y636H |
probably damaging |
Het |
| Sgms1 |
T |
G |
19: 32,120,245 (GRCm39) |
R220S |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,314,196 (GRCm39) |
I472N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,995,834 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,782,463 (GRCm39) |
V579A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,162,924 (GRCm39) |
H1002L |
probably damaging |
Het |
|
| Other mutations in Dbf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02086:Dbf4
|
APN |
5 |
8,453,189 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02582:Dbf4
|
APN |
5 |
8,453,172 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02711:Dbf4
|
APN |
5 |
8,458,235 (GRCm39) |
missense |
probably benign |
0.08 |
|
PIT4362001:Dbf4
|
UTSW |
5 |
8,453,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1201:Dbf4
|
UTSW |
5 |
8,447,498 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1823:Dbf4
|
UTSW |
5 |
8,447,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1863:Dbf4
|
UTSW |
5 |
8,447,375 (GRCm39) |
nonsense |
probably null |
|
|
R2237:Dbf4
|
UTSW |
5 |
8,458,542 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2276:Dbf4
|
UTSW |
5 |
8,471,333 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2279:Dbf4
|
UTSW |
5 |
8,471,333 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4774:Dbf4
|
UTSW |
5 |
8,453,062 (GRCm39) |
intron |
probably benign |
|
|
R4839:Dbf4
|
UTSW |
5 |
8,458,263 (GRCm39) |
nonsense |
probably null |
|
|
R4932:Dbf4
|
UTSW |
5 |
8,448,039 (GRCm39) |
missense |
probably benign |
|
|
R6009:Dbf4
|
UTSW |
5 |
8,453,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6141:Dbf4
|
UTSW |
5 |
8,458,545 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6236:Dbf4
|
UTSW |
5 |
8,448,579 (GRCm39) |
intron |
probably benign |
|
|
R6583:Dbf4
|
UTSW |
5 |
8,448,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6663:Dbf4
|
UTSW |
5 |
8,453,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7665:Dbf4
|
UTSW |
5 |
8,447,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7864:Dbf4
|
UTSW |
5 |
8,460,010 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7898:Dbf4
|
UTSW |
5 |
8,458,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8192:Dbf4
|
UTSW |
5 |
8,448,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8298:Dbf4
|
UTSW |
5 |
8,462,115 (GRCm39) |
splice site |
probably benign |
|
|
R8475:Dbf4
|
UTSW |
5 |
8,448,664 (GRCm39) |
intron |
probably benign |
|
|
R8854:Dbf4
|
UTSW |
5 |
8,458,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8869:Dbf4
|
UTSW |
5 |
8,448,656 (GRCm39) |
missense |
|
|
|
R9181:Dbf4
|
UTSW |
5 |
8,462,206 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9303:Dbf4
|
UTSW |
5 |
8,448,102 (GRCm39) |
missense |
unknown |
|
|
R9408:Dbf4
|
UTSW |
5 |
8,447,764 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
RF013:Dbf4
|
UTSW |
5 |
8,447,985 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Posted On |
2013-12-09 |
Incidental Mutation