Incidental Mutation 'IGL02711:Dbf4'
| ID |
304552 |
| 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 # |
IGL02711
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
8446973-8472716 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 8458235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 199
(A199E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002368]
[ENSMUST00000168500]
[ENSMUST00000171808]
|
| AlphaFold |
Q9QZ41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002368
AA Change: A199E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002368
Gene: ENSMUSG00000002297
AA Change: A199E
| 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 benign
Transcript: ENSMUST00000168500
AA Change: A199E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132985
Gene: ENSMUSG00000002297
AA Change: A199E
| 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 benign
Transcript: ENSMUST00000171808
AA Change: A199E
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297
AA Change: A199E
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,773,245 (GRCm39) |
|
probably null |
Het |
| Adamts10 |
T |
A |
17: 33,757,246 (GRCm39) |
M400K |
probably damaging |
Het |
| Adamts17 |
G |
A |
7: 66,701,788 (GRCm39) |
|
probably benign |
Het |
| Adh5 |
A |
G |
3: 138,160,434 (GRCm39) |
K323E |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,118,255 (GRCm39) |
W10R |
probably benign |
Het |
| Arhgap15 |
T |
C |
2: 44,006,674 (GRCm39) |
F264L |
possibly damaging |
Het |
| Atp6v1g3 |
T |
A |
1: 138,211,419 (GRCm39) |
L33Q |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,747,849 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,943,341 (GRCm39) |
F611S |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,405,862 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Cep76 |
A |
T |
18: 67,771,406 (GRCm39) |
S75R |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,251,676 (GRCm39) |
|
probably benign |
Het |
| Gldc |
C |
T |
19: 30,122,546 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
G |
A |
2: 3,503,557 (GRCm39) |
A117V |
probably benign |
Het |
| Igkv4-80 |
G |
A |
6: 68,993,801 (GRCm39) |
P30L |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,551 (GRCm39) |
W292R |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,226,401 (GRCm39) |
S982T |
probably damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,272,246 (GRCm39) |
K1043* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,820 (GRCm39) |
|
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,371,543 (GRCm39) |
Y38H |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,310,700 (GRCm39) |
I546T |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,980,515 (GRCm39) |
S222P |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,570,025 (GRCm39) |
V178A |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,531,359 (GRCm39) |
V191A |
probably benign |
Het |
| Msh3 |
T |
C |
13: 92,487,819 (GRCm39) |
T133A |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,390,673 (GRCm39) |
D12G |
probably damaging |
Het |
| Nox4 |
T |
C |
7: 87,046,076 (GRCm39) |
Y572H |
probably damaging |
Het |
| Nqo1 |
A |
T |
8: 108,119,563 (GRCm39) |
L30Q |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,261,083 (GRCm39) |
V30E |
probably damaging |
Het |
| Oxr1 |
A |
G |
15: 41,517,067 (GRCm39) |
|
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,377 (GRCm39) |
D1100G |
probably benign |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,779 (GRCm39) |
D285A |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,572,322 (GRCm39) |
N569S |
unknown |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
| Ripor3 |
T |
G |
2: 167,848,200 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
C |
A |
3: 159,328,514 (GRCm39) |
H441N |
possibly damaging |
Het |
| St14 |
A |
G |
9: 31,001,196 (GRCm39) |
V845A |
probably benign |
Het |
| Tmem116 |
T |
A |
5: 121,625,804 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,119,532 (GRCm39) |
D147E |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,560,466 (GRCm39) |
G27566* |
probably null |
Het |
| Zscan18 |
G |
T |
7: 12,509,044 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dbf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01585:Dbf4
|
APN |
5 |
8,458,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation