Incidental Mutation 'IGL02345:Gbx2'
| ID |
289245 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbx2
|
| Ensembl Gene |
ENSMUSG00000034486 |
| Gene Name |
gastrulation brain homeobox 2 |
| Synonyms |
MMoxA, Stra7, Gbx-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
89855684-89858898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89856698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 231
(T231A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036954]
|
| AlphaFold |
P48031 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036954
AA Change: T231A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486
AA Change: T231A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
HOX
|
247 |
309 |
7.58e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189763
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with vascular, neurological, skeletal, and craniofacial defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,214,215 (GRCm39) |
D177Y |
possibly damaging |
Het |
| Casc3 |
T |
C |
11: 98,718,390 (GRCm39) |
|
probably benign |
Het |
| Catspere2 |
G |
A |
1: 177,842,754 (GRCm39) |
V60I |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,495 (GRCm39) |
D41G |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,147,758 (GRCm39) |
S181G |
possibly damaging |
Het |
| Dyrk1a |
T |
G |
16: 94,472,221 (GRCm39) |
S242A |
possibly damaging |
Het |
| Fcgbp |
T |
A |
7: 27,771,068 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,706,604 (GRCm39) |
Y409C |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,143,770 (GRCm39) |
W230R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,519,436 (GRCm39) |
S960G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,649,143 (GRCm39) |
S390G |
possibly damaging |
Het |
| Gm5852 |
T |
A |
3: 93,635,055 (GRCm39) |
|
noncoding transcript |
Het |
| Lmo7 |
T |
C |
14: 102,124,909 (GRCm39) |
V456A |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,593,541 (GRCm39) |
N191S |
probably damaging |
Het |
| Or7h8 |
C |
A |
9: 20,124,314 (GRCm39) |
S223Y |
possibly damaging |
Het |
| Pik3c2a |
C |
T |
7: 116,005,126 (GRCm39) |
E381K |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,552 (GRCm39) |
D457G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,311,919 (GRCm39) |
S404P |
probably damaging |
Het |
| Prr16 |
T |
C |
18: 51,436,301 (GRCm39) |
F260S |
probably damaging |
Het |
| Psd4 |
T |
C |
2: 24,291,835 (GRCm39) |
|
probably null |
Het |
| Ptgs1 |
A |
G |
2: 36,132,983 (GRCm39) |
D327G |
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,755 (GRCm39) |
|
probably null |
Het |
| Spart |
T |
A |
3: 55,025,147 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,495,734 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
| Usp19 |
A |
G |
9: 108,371,057 (GRCm39) |
T240A |
probably benign |
Het |
| Vash2 |
A |
G |
1: 190,710,412 (GRCm39) |
V81A |
probably benign |
Het |
| Vmn2r41 |
T |
G |
7: 8,141,767 (GRCm39) |
N566H |
probably damaging |
Het |
| Wdr31 |
A |
G |
4: 62,377,083 (GRCm39) |
I42T |
possibly damaging |
Het |
| Zfp292 |
C |
T |
4: 34,809,244 (GRCm39) |
V1272I |
possibly damaging |
Het |
| Zfp638 |
C |
T |
6: 83,961,857 (GRCm39) |
R1899C |
probably damaging |
Het |
|
| Other mutations in Gbx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Gbx2
|
APN |
1 |
89,856,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01804:Gbx2
|
APN |
1 |
89,856,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02370:Gbx2
|
APN |
1 |
89,856,871 (GRCm39) |
splice site |
probably benign |
|
|
IGL02957:Gbx2
|
APN |
1 |
89,858,375 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02959:Gbx2
|
APN |
1 |
89,856,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Gbx2
|
UTSW |
1 |
89,858,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2405:Gbx2
|
UTSW |
1 |
89,858,630 (GRCm39) |
start gained |
probably benign |
|
|
R2860:Gbx2
|
UTSW |
1 |
89,856,853 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2861:Gbx2
|
UTSW |
1 |
89,856,853 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5384:Gbx2
|
UTSW |
1 |
89,856,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Gbx2
|
UTSW |
1 |
89,860,844 (GRCm39) |
unclassified |
probably benign |
|
|
R5747:Gbx2
|
UTSW |
1 |
89,856,437 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5956:Gbx2
|
UTSW |
1 |
89,860,908 (GRCm39) |
unclassified |
probably benign |
|
|
R6053:Gbx2
|
UTSW |
1 |
89,858,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6633:Gbx2
|
UTSW |
1 |
89,856,442 (GRCm39) |
frame shift |
probably null |
|
|
R7479:Gbx2
|
UTSW |
1 |
89,858,373 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7505:Gbx2
|
UTSW |
1 |
89,856,455 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7768:Gbx2
|
UTSW |
1 |
89,856,706 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8184:Gbx2
|
UTSW |
1 |
89,856,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Gbx2
|
UTSW |
1 |
89,856,745 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9599:Gbx2
|
UTSW |
1 |
89,856,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation