Incidental Mutation 'IGL02747:Dbx2'
| ID |
306088 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dbx2
|
| Ensembl Gene |
ENSMUSG00000045608 |
| Gene Name |
developing brain homeobox 2 |
| Synonyms |
LOC383001, 9430056A22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL02747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
95521444-95552838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95530320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 216
(T216A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054244]
|
| AlphaFold |
F8VQH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054244
AA Change: T216A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000060424
Gene: ENSMUSG00000045608
AA Change: T216A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
125 |
N/A |
INTRINSIC |
|
HOX
|
226 |
288 |
3.11e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229611
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,282 (GRCm39) |
L3373* |
probably null |
Het |
| Ap1s3 |
T |
C |
1: 79,601,409 (GRCm39) |
Y94C |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,579,995 (GRCm39) |
R67G |
probably damaging |
Het |
| Eng |
G |
A |
2: 32,562,970 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,861,875 (GRCm39) |
I206N |
probably damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,765,720 (GRCm39) |
M276I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,102,756 (GRCm39) |
S793P |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,317,087 (GRCm39) |
N9D |
probably benign |
Het |
| Kics2 |
A |
C |
10: 121,581,455 (GRCm39) |
Q152P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,819 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,423,565 (GRCm39) |
K985E |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,552,668 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,380 (GRCm39) |
Y133C |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,361,583 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,312,136 (GRCm39) |
K301E |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,438,122 (GRCm39) |
|
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,970,238 (GRCm39) |
D126E |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,999,348 (GRCm39) |
S712P |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,161 (GRCm39) |
I264N |
probably damaging |
Het |
| Rpap1 |
A |
G |
2: 119,604,609 (GRCm39) |
I433T |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,670,563 (GRCm39) |
N3478H |
probably damaging |
Het |
| Sox30 |
A |
G |
11: 45,871,772 (GRCm39) |
D209G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,088,981 (GRCm39) |
F628S |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,944,917 (GRCm39) |
G768D |
possibly damaging |
Het |
| Tesk2 |
T |
C |
4: 116,660,076 (GRCm39) |
V398A |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,272,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,719 (GRCm39) |
H357Y |
probably benign |
Het |
|
| Other mutations in Dbx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02245:Dbx2
|
APN |
15 |
95,522,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Dbx2
|
UTSW |
15 |
95,522,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0646:Dbx2
|
UTSW |
15 |
95,552,493 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1411:Dbx2
|
UTSW |
15 |
95,530,262 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1770:Dbx2
|
UTSW |
15 |
95,522,615 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1978:Dbx2
|
UTSW |
15 |
95,530,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2118:Dbx2
|
UTSW |
15 |
95,522,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2349:Dbx2
|
UTSW |
15 |
95,522,840 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3899:Dbx2
|
UTSW |
15 |
95,530,313 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5368:Dbx2
|
UTSW |
15 |
95,538,522 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5734:Dbx2
|
UTSW |
15 |
95,552,604 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6726:Dbx2
|
UTSW |
15 |
95,522,741 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6843:Dbx2
|
UTSW |
15 |
95,552,340 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7962:Dbx2
|
UTSW |
15 |
95,552,199 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8490:Dbx2
|
UTSW |
15 |
95,552,454 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8845:Dbx2
|
UTSW |
15 |
95,552,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8865:Dbx2
|
UTSW |
15 |
95,530,281 (GRCm39) |
nonsense |
probably null |
|
|
R9069:Dbx2
|
UTSW |
15 |
95,530,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Dbx2
|
UTSW |
15 |
95,552,304 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Posted On |
2015-04-16 |
Incidental Mutation