Incidental Mutation 'R6583:Dbf4'
| ID |
524223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbf4
|
| Ensembl Gene |
ENSMUSG00000002297 |
| Gene Name |
DBF4 zinc finger |
| Synonyms |
Ask |
| MMRRC Submission |
044707-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8446973-8472716 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8448143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 355
(S355P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002368]
[ENSMUST00000168500]
[ENSMUST00000171808]
|
| AlphaFold |
Q9QZ41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002368
AA Change: S355P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002368
Gene: ENSMUSG00000002297
AA Change: S355P
| 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 |
probably benign
Transcript: ENSMUST00000163141
|
| SMART Domains |
Protein: ENSMUSP00000129317
Gene: ENSMUSG00000002297
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_DBF
|
19 |
66 |
7.09e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166364
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168500
AA Change: V314A
|
| SMART Domains |
Protein: ENSMUSP00000132985
Gene: ENSMUSG00000002297
AA Change: V314A
| 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 |
noncoding transcript
Transcript: ENSMUST00000168637
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171808
AA Change: S356P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297
AA Change: S356P
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
C |
3: 126,810,613 (GRCm39) |
I491S |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,757,588 (GRCm39) |
Q240L |
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,637,272 (GRCm39) |
P1050S |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,619,197 (GRCm39) |
A42E |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,436 (GRCm39) |
V28A |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,150,516 (GRCm39) |
V749A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,792,688 (GRCm39) |
L606P |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,489,210 (GRCm39) |
S109P |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,351,758 (GRCm39) |
Q59L |
unknown |
Het |
| M6pr |
T |
C |
6: 122,290,349 (GRCm39) |
V104A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,364,739 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,181,127 (GRCm39) |
K169R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,937 (GRCm39) |
D636G |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nfib |
T |
G |
4: 82,416,708 (GRCm39) |
D125A |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,332,117 (GRCm39) |
T393A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,506,260 (GRCm39) |
V248I |
possibly damaging |
Het |
| Paox |
T |
A |
7: 139,706,291 (GRCm39) |
N70K |
probably damaging |
Het |
| Pnma8b |
A |
G |
7: 16,679,844 (GRCm39) |
N276S |
probably damaging |
Het |
| Ralgds |
G |
A |
2: 28,423,656 (GRCm39) |
A32T |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,591 (GRCm39) |
N446I |
possibly damaging |
Het |
| Soat1 |
T |
C |
1: 156,294,062 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,205,958 (GRCm39) |
V339E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,256,603 (GRCm39) |
C516F |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,059,017 (GRCm39) |
T515A |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,351,752 (GRCm39) |
|
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,633 (GRCm39) |
D78Y |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAGGCTCACTTGCATTG -3'
(R):5'- ACCCTAGTTCAGTTTAGGTGGTTTC -3'
Sequencing Primer
(F):5'- CAGGCTCACTTGCATTGAACATG -3'
(R):5'- CAGTTTAGGTGGTTTCTGTGTTTTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation