Incidental Mutation 'R7786:Gatad2b'
| ID |
599524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gatad2b
|
| Ensembl Gene |
ENSMUSG00000042390 |
| Gene Name |
GATA zinc finger domain containing 2B |
| Synonyms |
p66beta, C430014D17Rik |
| MMRRC Submission |
045842-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
90200488-90270712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90262986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 476
(I476T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049382]
[ENSMUST00000197988]
[ENSMUST00000199607]
[ENSMUST00000199754]
|
| AlphaFold |
Q8VHR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049382
AA Change: I476T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390
AA Change: I476T
| 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 |
probably damaging
Transcript: ENSMUST00000197988
AA Change: I460T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390
AA Change: I460T
| 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: I476T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390
AA Change: I476T
| 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: I476T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390
AA Change: I476T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (42/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
| Akna |
A |
G |
4: 63,313,199 (GRCm39) |
L308P |
probably benign |
Het |
| Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Fcrla |
G |
T |
1: 170,748,426 (GRCm39) |
P265Q |
possibly damaging |
Het |
| Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
| Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
| Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,050 (GRCm39) |
I71N |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,193,916 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
| Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
| Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
| Tnfaip8 |
G |
C |
18: 50,180,178 (GRCm39) |
A110P |
unknown |
Het |
| Tnfaip8 |
C |
T |
18: 50,180,179 (GRCm39) |
A110V |
unknown |
Het |
| Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
| Vav2 |
C |
A |
2: 27,276,613 (GRCm39) |
L70F |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,242,702 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCATGAGAGCCAGCTTTC -3'
(R):5'- TGACAGTTGATGAAATCTTGCC -3'
Sequencing Primer
(F):5'- CTCATGAGAGCCAGCTTTCTAGAG -3'
(R):5'- CCTGTTTACTGACACTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation