Incidental Mutation 'R4002:Dbx1'
| ID |
311308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbx1
|
| Ensembl Gene |
ENSMUSG00000030507 |
| Gene Name |
developing brain homeobox 1 |
| Synonyms |
Mmox C, Dbx |
| MMRRC Submission |
041609-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49281247-49286583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49286265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 67
(S67G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032717]
|
| AlphaFold |
P52950 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032717
AA Change: S67G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000032717
Gene: ENSMUSG00000030507
AA Change: S67G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
95 |
N/A |
INTRINSIC |
|
HOX
|
181 |
243 |
1.45e-23 |
SMART |
|
low complexity region
|
299 |
331 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (29/30) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions of this gene die at birth. V0 interneurons develop as V1 or dl6 interneurons. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, other(6) |
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,274,964 (GRCm39) |
N222K |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,535,415 (GRCm39) |
M4680L |
probably benign |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Afdn |
T |
C |
17: 14,104,179 (GRCm39) |
S1157P |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,629,479 (GRCm39) |
T63A |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,801,176 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,383,048 (GRCm39) |
L277I |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,093 (GRCm39) |
D431V |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,381,116 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,670,840 (GRCm39) |
T471S |
probably benign |
Het |
| Efcab8 |
A |
T |
2: 153,623,726 (GRCm39) |
K70N |
probably benign |
Het |
| Grcc10 |
A |
T |
6: 124,717,933 (GRCm39) |
M1K |
probably null |
Het |
| Higd2a |
G |
C |
13: 54,738,540 (GRCm39) |
C53S |
probably damaging |
Het |
| Kcna4 |
C |
T |
2: 107,126,259 (GRCm39) |
P331L |
probably damaging |
Het |
| Keg1 |
T |
A |
19: 12,696,307 (GRCm39) |
S164T |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,617,154 (GRCm39) |
V1031A |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,476,743 (GRCm39) |
T737I |
possibly damaging |
Het |
| Or10al7 |
G |
A |
17: 38,365,879 (GRCm39) |
L193F |
probably damaging |
Het |
| Or7g33 |
C |
T |
9: 19,449,202 (GRCm39) |
R8K |
probably benign |
Het |
| Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,854,630 (GRCm39) |
M202V |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,826,822 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
C |
14: 50,599,984 (GRCm39) |
F657L |
probably benign |
Het |
| Ttf2 |
G |
A |
3: 100,855,541 (GRCm39) |
Q96* |
probably null |
Het |
| Ube2frt |
G |
A |
12: 36,140,635 (GRCm39) |
|
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp810 |
C |
T |
9: 22,190,188 (GRCm39) |
C240Y |
probably damaging |
Het |
|
| Other mutations in Dbx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Dbx1
|
APN |
7 |
49,286,222 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02795:Dbx1
|
APN |
7 |
49,286,325 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0630:Dbx1
|
UTSW |
7 |
49,282,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Dbx1
|
UTSW |
7 |
49,286,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3147:Dbx1
|
UTSW |
7 |
49,286,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5035:Dbx1
|
UTSW |
7 |
49,282,284 (GRCm39) |
missense |
unknown |
|
|
R5077:Dbx1
|
UTSW |
7 |
49,283,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Dbx1
|
UTSW |
7 |
49,282,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Dbx1
|
UTSW |
7 |
49,282,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Dbx1
|
UTSW |
7 |
49,282,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Dbx1
|
UTSW |
7 |
49,282,239 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCACGGCTGTATCTTAC -3'
(R):5'- ACCCGCTCTAACCATGATGTTC -3'
Sequencing Primer
(F):5'- GCACGGCTGTATCTTACCTCTTCTAG -3'
(R):5'- AACCATGATGTTCCCCGGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation