Incidental Mutation 'IGL01490:Gatad2b'
| ID |
88819 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gatad2b
|
| Ensembl Gene |
ENSMUSG00000042390 |
| Gene Name |
GATA zinc finger domain containing 2B |
| Synonyms |
p66beta, C430014D17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90200488-90270712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90259385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 374
(I374V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049382]
[ENSMUST00000197988]
[ENSMUST00000199607]
[ENSMUST00000199754]
|
| AlphaFold |
Q8VHR5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049382
AA Change: I390V
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390
AA Change: I390V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
Pfam:P66_CC
|
158 |
201 |
1.7e-21 |
PFAM |
|
low complexity region
|
341 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
382 |
N/A |
INTRINSIC |
|
Pfam:GATA
|
421 |
455 |
1e-11 |
PFAM |
|
coiled coil region
|
456 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196212
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197988
AA Change: I374V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390
AA Change: I374V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
coiled coil region
|
158 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
Pfam:GATA
|
405 |
439 |
9.3e-11 |
PFAM |
|
coiled coil region
|
440 |
462 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199607
AA Change: I390V
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390
AA Change: I390V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
coiled coil region
|
158 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
382 |
N/A |
INTRINSIC |
|
Pfam:GATA
|
421 |
455 |
7.8e-11 |
PFAM |
|
coiled coil region
|
456 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199754
AA Change: I390V
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390
AA Change: I390V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
coiled coil region
|
158 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
382 |
N/A |
INTRINSIC |
|
Pfam:GATA
|
421 |
455 |
7.8e-11 |
PFAM |
|
coiled coil region
|
456 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200373
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206907
AA Change: I140V
|
| 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 zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with mental retardation. [provided by RefSeq, Jun 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,023 (GRCm39) |
Y2131C |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,846,291 (GRCm39) |
S510T |
probably benign |
Het |
| Asb16 |
A |
T |
11: 102,167,575 (GRCm39) |
N314Y |
probably damaging |
Het |
| Atp6v0b |
G |
A |
4: 117,742,303 (GRCm39) |
Q150* |
probably null |
Het |
| Chct1 |
A |
G |
11: 85,069,138 (GRCm39) |
D52G |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,455 (GRCm39) |
Y260C |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,642,725 (GRCm39) |
D481G |
possibly damaging |
Het |
| Dnajb2 |
T |
C |
1: 75,213,534 (GRCm39) |
S3P |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,869 (GRCm39) |
S179R |
possibly damaging |
Het |
| Dock2 |
A |
T |
11: 34,596,608 (GRCm39) |
I416N |
probably damaging |
Het |
| Dock7 |
G |
T |
4: 98,833,355 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,668,102 (GRCm39) |
I46V |
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,686 (GRCm39) |
D374G |
probably benign |
Het |
| Gfpt2 |
T |
C |
11: 49,717,954 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
G |
T |
17: 36,596,377 (GRCm39) |
T156K |
probably damaging |
Het |
| Il20rb |
T |
A |
9: 100,355,207 (GRCm39) |
I79F |
probably damaging |
Het |
| Kcnip3 |
C |
T |
2: 127,352,799 (GRCm39) |
R44H |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,057,579 (GRCm39) |
D551V |
possibly damaging |
Het |
| Mex3b |
C |
A |
7: 82,519,035 (GRCm39) |
P450Q |
possibly damaging |
Het |
| Mmp20 |
T |
C |
9: 7,628,330 (GRCm39) |
L26P |
probably benign |
Het |
| Msh3 |
G |
A |
13: 92,436,813 (GRCm39) |
T499M |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,566 (GRCm39) |
S1466G |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,538,089 (GRCm39) |
R1324G |
possibly damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
T |
A |
6: 124,705,307 (GRCm39) |
E208V |
probably damaging |
Het |
| Qpct |
T |
C |
17: 79,397,169 (GRCm39) |
V354A |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,715 (GRCm39) |
I108V |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,057,422 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,796,914 (GRCm39) |
I206N |
probably damaging |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,132 (GRCm39) |
K122N |
probably benign |
Het |
| Wdr35 |
G |
T |
12: 9,027,381 (GRCm39) |
G54V |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,291,147 (GRCm39) |
C2153S |
probably damaging |
Het |
|
| Other mutations in Gatad2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02172:Gatad2b
|
APN |
3 |
90,262,978 (GRCm39) |
splice site |
probably benign |
|
|
IGL02672:Gatad2b
|
APN |
3 |
90,249,198 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03030:Gatad2b
|
APN |
3 |
90,249,244 (GRCm39) |
missense |
probably benign |
0.11 |
|
FR4449:Gatad2b
|
UTSW |
3 |
90,249,224 (GRCm39) |
small deletion |
probably benign |
|
|
R0083:Gatad2b
|
UTSW |
3 |
90,265,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0108:Gatad2b
|
UTSW |
3 |
90,265,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Gatad2b
|
UTSW |
3 |
90,263,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0707:Gatad2b
|
UTSW |
3 |
90,263,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1722:Gatad2b
|
UTSW |
3 |
90,262,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Gatad2b
|
UTSW |
3 |
90,249,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2138:Gatad2b
|
UTSW |
3 |
90,259,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Gatad2b
|
UTSW |
3 |
90,258,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Gatad2b
|
UTSW |
3 |
90,255,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7104:Gatad2b
|
UTSW |
3 |
90,258,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7190:Gatad2b
|
UTSW |
3 |
90,257,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7291:Gatad2b
|
UTSW |
3 |
90,258,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7760:Gatad2b
|
UTSW |
3 |
90,261,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7786:Gatad2b
|
UTSW |
3 |
90,262,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8113:Gatad2b
|
UTSW |
3 |
90,249,029 (GRCm39) |
missense |
probably benign |
|
|
R8836:Gatad2b
|
UTSW |
3 |
90,263,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Gatad2b
|
UTSW |
3 |
90,255,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation