Incidental Mutation 'R0108:Gatad2b'
| ID |
17715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gatad2b
|
| Ensembl Gene |
ENSMUSG00000042390 |
| Gene Name |
GATA zinc finger domain containing 2B |
| Synonyms |
p66beta, C430014D17Rik |
| MMRRC Submission |
038394-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0108 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
90200488-90270712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90265250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 576
(Y576N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049382]
[ENSMUST00000197988]
[ENSMUST00000199607]
[ENSMUST00000199754]
|
| AlphaFold |
Q8VHR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049382
AA Change: Y576N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390
AA Change: Y576N
| 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 |
probably damaging
Transcript: ENSMUST00000197988
AA Change: Y560N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390
AA Change: Y560N
| 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 |
probably damaging
Transcript: ENSMUST00000199607
AA Change: Y576N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390
AA Change: Y576N
| 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 |
probably damaging
Transcript: ENSMUST00000199754
AA Change: Y576N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390
AA Change: Y576N
| 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 |
probably benign
Transcript: ENSMUST00000206907
|
| Meta Mutation Damage Score |
0.9305 |
| Coding Region Coverage |
- 1x: 87.1%
- 3x: 81.7%
- 10x: 58.7%
- 20x: 25.7%
|
| Validation Efficiency |
90% (92/102) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,224,692 (GRCm39) |
N910K |
probably benign |
Het |
| Ackr4 |
T |
A |
9: 103,976,387 (GRCm39) |
I187F |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,311,184 (GRCm39) |
V1147A |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,111,702 (GRCm39) |
E1996G |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
| Frem2 |
G |
T |
3: 53,555,382 (GRCm39) |
D1718E |
probably benign |
Het |
| Gm136 |
G |
T |
4: 34,746,593 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
| Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
| Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
| Mpdz |
C |
T |
4: 81,300,042 (GRCm39) |
V319I |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,759,071 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,131,809 (GRCm39) |
W293R |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Plekho2 |
A |
T |
9: 65,466,705 (GRCm39) |
D128E |
probably damaging |
Het |
| Pstpip1 |
A |
G |
9: 56,035,050 (GRCm39) |
E341G |
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
| Scin |
A |
G |
12: 40,177,986 (GRCm39) |
V83A |
possibly damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
|
| Other mutations in Gatad2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Gatad2b
|
APN |
3 |
90,259,385 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
2013-01-31 |
Incidental Mutation