Incidental Mutation 'R1201:Dbf4'
| ID |
101362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbf4
|
| Ensembl Gene |
ENSMUSG00000002297 |
| Gene Name |
DBF4 zinc finger |
| Synonyms |
Ask |
| MMRRC Submission |
039271-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8446973-8472716 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 8447498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 571
(L571V)
|
| 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: L570V
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000002368
Gene: ENSMUSG00000002297
AA Change: L570V
| 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 |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000168637
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171808
AA Change: L571V
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297
AA Change: L571V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,546,626 (GRCm39) |
T103A |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,384,761 (GRCm39) |
I674T |
probably damaging |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Actc1 |
A |
G |
2: 113,879,994 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arhgap40 |
A |
C |
2: 158,376,689 (GRCm39) |
D275A |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,524 (GRCm39) |
S1490G |
probably benign |
Het |
| Car11 |
A |
G |
7: 45,352,904 (GRCm39) |
D221G |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,095 (GRCm39) |
H596Q |
possibly damaging |
Het |
| Ccm2 |
T |
C |
11: 6,543,682 (GRCm39) |
V231A |
probably benign |
Het |
| Crh |
A |
G |
3: 19,748,090 (GRCm39) |
I184T |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,091,393 (GRCm39) |
S424P |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,153,542 (GRCm39) |
K66E |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,296,487 (GRCm39) |
V3672A |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,883 (GRCm39) |
N230D |
probably benign |
Het |
| Nlrp4b |
G |
T |
7: 10,449,363 (GRCm39) |
R522L |
possibly damaging |
Het |
| Ntn1 |
T |
C |
11: 68,104,052 (GRCm39) |
D532G |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,848,059 (GRCm39) |
V215D |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,917,937 (GRCm39) |
M36K |
probably damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,813 (GRCm39) |
W260R |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,226 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b2b |
T |
G |
1: 92,418,875 (GRCm39) |
I201L |
probably benign |
Het |
| Or7a39 |
A |
T |
10: 78,715,311 (GRCm39) |
M102L |
probably benign |
Het |
| Otulinl |
G |
A |
15: 27,658,259 (GRCm39) |
Q84* |
probably null |
Het |
| Pidd1 |
A |
G |
7: 141,020,187 (GRCm39) |
F580L |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,108,305 (GRCm39) |
D1116G |
probably damaging |
Het |
| Prss33 |
G |
T |
17: 24,054,084 (GRCm39) |
S74* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,081,222 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
C |
15: 39,479,720 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,413,342 (GRCm39) |
S1152P |
unknown |
Het |
| Slc6a17 |
T |
A |
3: 107,400,388 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,037 (GRCm39) |
W310* |
probably null |
Het |
| Tnrc6c |
T |
G |
11: 117,612,500 (GRCm39) |
N379K |
probably damaging |
Het |
| Vmn1r76 |
A |
C |
7: 11,664,252 (GRCm39) |
F286V |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,225,413 (GRCm39) |
D463G |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp263 |
T |
A |
16: 3,567,294 (GRCm39) |
H536Q |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,736 (GRCm39) |
F602Y |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTTTCAGTGTAGCCTGTAAAACCCA -3'
(R):5'- ATGCAAGTGAGCCTGACCCAGA -3'
Sequencing Primer
(F):5'- GTGTAGCCTGTAAAACCCAAAAATTC -3'
(R):5'- GAGTATGCACAGCTACCTCTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation