Incidental Mutation 'IGL02705:Gata2'
| ID |
304295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gata2
|
| Ensembl Gene |
ENSMUSG00000015053 |
| Gene Name |
GATA binding protein 2 |
| Synonyms |
Gata-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88170873-88184014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88182346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 438
(A438V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015197]
[ENSMUST00000170089]
|
| AlphaFold |
O09100 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015197
AA Change: A438V
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000015197
Gene: ENSMUSG00000015053
AA Change: A438V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
ZnF_GATA
|
289 |
339 |
2.37e-19 |
SMART |
|
ZnF_GATA
|
343 |
393 |
1.26e-23 |
SMART |
|
low complexity region
|
399 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170089
AA Change: A438V
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128198
Gene: ENSMUSG00000015053
AA Change: A438V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
ZnF_GATA
|
289 |
339 |
2.37e-19 |
SMART |
|
ZnF_GATA
|
343 |
393 |
1.26e-23 |
SMART |
|
low complexity region
|
399 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205151
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutant show reduced placental secretion of angiogenic factors, hematopoietic defects, enlarged pericardial sacs, reduced numbers of V2-expressing interneurons of ventral spinal cord, and die by embryonic day 11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
A |
G |
1: 151,791,264 (GRCm39) |
F99S |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,430,974 (GRCm39) |
P937S |
probably benign |
Het |
| Apom |
T |
G |
17: 35,349,471 (GRCm39) |
|
probably null |
Het |
| Baz2b |
A |
G |
2: 59,778,604 (GRCm39) |
I752T |
possibly damaging |
Het |
| Bcat1 |
T |
C |
6: 144,964,914 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,112,181 (GRCm39) |
F1425L |
possibly damaging |
Het |
| Bco1 |
G |
A |
8: 117,844,242 (GRCm39) |
V319M |
possibly damaging |
Het |
| Dmwd |
C |
A |
7: 18,814,769 (GRCm39) |
T473K |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,896,499 (GRCm39) |
Y48C |
probably damaging |
Het |
| Ifnz |
A |
G |
4: 88,701,574 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,257,960 (GRCm39) |
I1859V |
possibly damaging |
Het |
| Ndn |
A |
G |
7: 61,998,856 (GRCm39) |
D234G |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,098 (GRCm39) |
L71P |
probably damaging |
Het |
| Nfia |
T |
G |
4: 97,671,605 (GRCm39) |
L105R |
probably damaging |
Het |
| Npy2r |
T |
A |
3: 82,448,056 (GRCm39) |
T127S |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,550,449 (GRCm39) |
Y292H |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,899,696 (GRCm39) |
N137K |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,686,924 (GRCm39) |
C94S |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,537,372 (GRCm39) |
S320P |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,637,788 (GRCm39) |
V438A |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,142,500 (GRCm39) |
G71R |
probably damaging |
Het |
| Styk1 |
C |
T |
6: 131,289,546 (GRCm39) |
V23I |
probably benign |
Het |
| Tmprss5 |
C |
A |
9: 49,018,447 (GRCm39) |
N92K |
probably benign |
Het |
| Trpm6 |
T |
G |
19: 18,754,097 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,677,114 (GRCm39) |
|
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,017 (GRCm39) |
F808S |
probably damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,774,062 (GRCm39) |
A431V |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,101,250 (GRCm39) |
|
probably null |
Het |
| Zfp407 |
G |
T |
18: 84,577,156 (GRCm39) |
S1319* |
probably null |
Het |
|
| Other mutations in Gata2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02558:Gata2
|
APN |
6 |
88,176,762 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02616:Gata2
|
APN |
6 |
88,182,462 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02637:Gata2
|
APN |
6 |
88,181,558 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03143:Gata2
|
APN |
6 |
88,181,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Gata2
|
UTSW |
6 |
88,177,323 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1769:Gata2
|
UTSW |
6 |
88,182,237 (GRCm39) |
missense |
probably benign |
|
|
R3921:Gata2
|
UTSW |
6 |
88,182,464 (GRCm39) |
makesense |
probably null |
|
|
R4151:Gata2
|
UTSW |
6 |
88,176,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5834:Gata2
|
UTSW |
6 |
88,177,729 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5875:Gata2
|
UTSW |
6 |
88,179,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Gata2
|
UTSW |
6 |
88,177,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6236:Gata2
|
UTSW |
6 |
88,179,548 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7605:Gata2
|
UTSW |
6 |
88,177,390 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8752:Gata2
|
UTSW |
6 |
88,177,513 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9469:Gata2
|
UTSW |
6 |
88,182,301 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9649:Gata2
|
UTSW |
6 |
88,179,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Gata2
|
UTSW |
6 |
88,177,272 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0026:Gata2
|
UTSW |
6 |
88,181,594 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation