Incidental Mutation 'IGL00567:Gata6'
| ID |
13493 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gata6
|
| Ensembl Gene |
ENSMUSG00000005836 |
| Gene Name |
GATA binding protein 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
11052510-11085636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11084330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 540
(M540V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047762]
|
| AlphaFold |
Q61169 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047762
AA Change: M540V
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041774
Gene: ENSMUSG00000005836
AA Change: M540V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
105 |
N/A |
INTRINSIC |
|
Pfam:GATA-N
|
147 |
372 |
2.3e-62 |
PFAM |
|
ZnF_GATA
|
378 |
429 |
4.23e-16 |
SMART |
|
ZnF_GATA
|
432 |
482 |
3.62e-24 |
SMART |
|
| 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 is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mutant E5.5 embryos lack parts of the visceral endoderm, show impaired embryonic ectoderm development, and die soon post-implantation, apparently of extraembryonic tissue defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,990,747 (GRCm39) |
N4010K |
probably benign |
Het |
| Atm |
G |
T |
9: 53,414,416 (GRCm39) |
Y891* |
probably null |
Het |
| Cfap70 |
C |
T |
14: 20,444,748 (GRCm39) |
V1083I |
probably benign |
Het |
| Col5a2 |
T |
A |
1: 45,432,037 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,407,733 (GRCm39) |
S360P |
probably damaging |
Het |
| Fam162b |
C |
T |
10: 51,466,390 (GRCm39) |
G43E |
possibly damaging |
Het |
| Gnl3l |
A |
T |
X: 149,777,242 (GRCm39) |
|
probably null |
Het |
| Mark2 |
T |
C |
19: 7,318,549 (GRCm39) |
E13G |
possibly damaging |
Het |
| Myo16 |
A |
C |
8: 10,512,154 (GRCm39) |
I778L |
probably damaging |
Het |
| Postn |
T |
C |
3: 54,291,944 (GRCm39) |
V715A |
probably benign |
Het |
| Prl3c1 |
A |
G |
13: 27,384,695 (GRCm39) |
E68G |
possibly damaging |
Het |
| Ptch1 |
C |
A |
13: 63,674,989 (GRCm39) |
S741I |
probably benign |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,228 (GRCm39) |
E83G |
possibly damaging |
Het |
| Scyl2 |
C |
T |
10: 89,493,671 (GRCm39) |
|
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,978,415 (GRCm39) |
D83G |
probably benign |
Het |
| Ube2l6 |
C |
T |
2: 84,639,382 (GRCm39) |
P115L |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,401,933 (GRCm39) |
W233R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,697,114 (GRCm39) |
T5191A |
probably damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,059,896 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
C |
5: 137,414,539 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gata6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Gata6
|
APN |
18 |
11,064,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02419:Gata6
|
APN |
18 |
11,054,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lutsen
|
UTSW |
18 |
11,063,059 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0538:Gata6
|
UTSW |
18 |
11,064,771 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1419:Gata6
|
UTSW |
18 |
11,064,706 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2000:Gata6
|
UTSW |
18 |
11,054,113 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3113:Gata6
|
UTSW |
18 |
11,063,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4765:Gata6
|
UTSW |
18 |
11,054,394 (GRCm39) |
missense |
probably benign |
|
|
R4855:Gata6
|
UTSW |
18 |
11,054,497 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5368:Gata6
|
UTSW |
18 |
11,063,059 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6805:Gata6
|
UTSW |
18 |
11,054,460 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7192:Gata6
|
UTSW |
18 |
11,054,475 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7206:Gata6
|
UTSW |
18 |
11,054,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:Gata6
|
UTSW |
18 |
11,054,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7541:Gata6
|
UTSW |
18 |
11,059,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Gata6
|
UTSW |
18 |
11,084,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Gata6
|
UTSW |
18 |
11,054,944 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8251:Gata6
|
UTSW |
18 |
11,054,670 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9339:Gata6
|
UTSW |
18 |
11,054,520 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9712:Gata6
|
UTSW |
18 |
11,059,064 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9753:Gata6
|
UTSW |
18 |
11,064,706 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2012-12-06 |
Incidental Mutation