Incidental Mutation 'IGL02672:Gatad2b'
| ID |
302970 |
| 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 # |
IGL02672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90200488-90270712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90249198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 79
(L79F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049382]
[ENSMUST00000197988]
[ENSMUST00000199607]
[ENSMUST00000199754]
|
| AlphaFold |
Q8VHR5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049382
AA Change: L79F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390
AA Change: L79F
| 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: L79F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390
AA Change: L79F
| 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: L79F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390
AA Change: L79F
| 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: L79F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390
AA Change: L79F
| 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: ENSMUST00000199820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205797
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Alpi |
A |
G |
1: 87,028,994 (GRCm39) |
L60P |
probably damaging |
Het |
| Arpc1a |
A |
C |
5: 145,041,697 (GRCm39) |
I327L |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Dcaf7 |
T |
C |
11: 105,945,684 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,818,427 (GRCm39) |
I3304L |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,304,376 (GRCm39) |
H508L |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
| Enpp7 |
T |
C |
11: 118,883,166 (GRCm39) |
|
probably null |
Het |
| Fbxw9 |
C |
A |
8: 85,792,682 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,829,777 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
C |
T |
11: 83,315,957 (GRCm39) |
R254H |
probably damaging |
Het |
| Igf1r |
A |
T |
7: 67,839,781 (GRCm39) |
D696V |
probably benign |
Het |
| Kcnk5 |
A |
G |
14: 20,196,580 (GRCm39) |
I96T |
probably damaging |
Het |
| Lrrc8c |
C |
T |
5: 105,755,224 (GRCm39) |
T333M |
possibly damaging |
Het |
| Mcm10 |
T |
C |
2: 5,006,092 (GRCm39) |
T417A |
probably benign |
Het |
| Mesp2 |
T |
C |
7: 79,461,145 (GRCm39) |
S157P |
probably benign |
Het |
| Naca |
A |
G |
10: 127,876,152 (GRCm39) |
|
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,832,417 (GRCm39) |
M35L |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,359,270 (GRCm39) |
T260A |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,435,170 (GRCm39) |
|
probably null |
Het |
| Pdk1 |
T |
C |
2: 71,726,096 (GRCm39) |
S335P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,668,987 (GRCm39) |
N338S |
probably benign |
Het |
| Pogz |
G |
A |
3: 94,763,410 (GRCm39) |
V61I |
probably benign |
Het |
| Ppp4r1 |
A |
G |
17: 66,147,942 (GRCm39) |
Y928C |
probably damaging |
Het |
| Rab17 |
T |
C |
1: 90,886,940 (GRCm39) |
E160G |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,803,412 (GRCm39) |
F70Y |
probably benign |
Het |
| Rere |
T |
A |
4: 150,594,483 (GRCm39) |
N364K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,703,944 (GRCm39) |
|
probably benign |
Het |
| Sae1 |
A |
G |
7: 16,104,273 (GRCm39) |
V112A |
probably damaging |
Het |
| Serpinb6d |
C |
T |
13: 33,855,372 (GRCm39) |
H349Y |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,012,596 (GRCm39) |
V286A |
probably damaging |
Het |
| Smad3 |
A |
T |
9: 63,575,009 (GRCm39) |
|
probably null |
Het |
| Sox8 |
T |
A |
17: 25,787,963 (GRCm39) |
D162V |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,087,239 (GRCm39) |
F1067L |
probably damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,409,981 (GRCm39) |
Y211C |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,409,166 (GRCm38) |
|
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,168 (GRCm39) |
H510Q |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,218,587 (GRCm39) |
|
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,376 (GRCm39) |
I651N |
probably benign |
Het |
| Wdr25 |
A |
T |
12: 108,864,007 (GRCm39) |
K51* |
probably null |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation