Incidental Mutation 'R6664:Gatad2a'
| ID |
526905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gatad2a
|
| Ensembl Gene |
ENSMUSG00000036180 |
| Gene Name |
GATA zinc finger domain containing 2A |
| Synonyms |
1110066C11Rik |
| MMRRC Submission |
044784-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R6664 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70359726-70449034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70370139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 189
(L189P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065169]
[ENSMUST00000116463]
[ENSMUST00000177851]
[ENSMUST00000211960]
[ENSMUST00000212277]
[ENSMUST00000212478]
|
| AlphaFold |
Q8CHY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065169
AA Change: L189P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070229
Gene: ENSMUSG00000036180
AA Change: L189P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
|
Pfam:P66_CC
|
132 |
175 |
8.1e-24 |
PFAM |
|
low complexity region
|
276 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116463
AA Change: L189P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112164
Gene: ENSMUSG00000036180
AA Change: L189P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
|
coiled coil region
|
135 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177851
AA Change: L189P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137386
Gene: ENSMUSG00000036180
AA Change: L189P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
|
coiled coil region
|
135 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211960
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212277
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212478
AA Change: L189P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die around E9.5 displaying variable developmental defects, including malformed or unfused neural folds, failure of closure of anterior neuropore, missing or excessively large blood vessels in the yolk sac, abnormal embryo turning, and embryonic growth arrest. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
C |
4: 144,503,969 (GRCm39) |
*394W |
probably null |
Het |
| AU040320 |
A |
T |
4: 126,729,443 (GRCm39) |
Y535F |
probably damaging |
Het |
| Auh |
G |
C |
13: 53,052,703 (GRCm39) |
S138W |
probably damaging |
Het |
| Bmp2k |
A |
T |
5: 97,235,989 (GRCm39) |
K1137N |
probably benign |
Het |
| Btn1a1 |
A |
G |
13: 23,643,490 (GRCm39) |
Y320H |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,315,966 (GRCm39) |
Q479* |
probably null |
Het |
| Cyp4f18 |
A |
T |
8: 72,743,759 (GRCm39) |
S399T |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 38,982,283 (GRCm39) |
L83P |
probably damaging |
Het |
| Fbxo45 |
T |
C |
16: 32,057,234 (GRCm39) |
N220S |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,267,326 (GRCm39) |
M302V |
probably benign |
Het |
| Fgb |
A |
T |
3: 82,954,066 (GRCm39) |
S57R |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,289,824 (GRCm39) |
V134A |
probably damaging |
Het |
| Ifitm7 |
T |
C |
16: 13,801,613 (GRCm39) |
T49A |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,655,393 (GRCm39) |
T601A |
probably damaging |
Het |
| Jmjd4 |
T |
C |
11: 59,341,245 (GRCm39) |
F59L |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,907,395 (GRCm39) |
S1323L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,610 (GRCm39) |
E732G |
probably benign |
Het |
| Nr4a3 |
G |
A |
4: 48,056,006 (GRCm39) |
R344Q |
probably damaging |
Het |
| Or1j12 |
A |
G |
2: 36,343,110 (GRCm39) |
N171S |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,395 (GRCm39) |
S240R |
possibly damaging |
Het |
| Pik3cb |
T |
C |
9: 98,976,591 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prl3a1 |
C |
A |
13: 27,454,194 (GRCm39) |
Y57* |
probably null |
Het |
| Ripor2 |
A |
T |
13: 24,859,803 (GRCm39) |
I164F |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,846,757 (GRCm39) |
E146G |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,942 (GRCm39) |
R581C |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,746 (GRCm39) |
D747E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp945 |
A |
G |
17: 23,071,339 (GRCm39) |
S187P |
probably damaging |
Het |
|
| Other mutations in Gatad2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01960:Gatad2a
|
APN |
8 |
70,362,598 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1730:Gatad2a
|
UTSW |
8 |
70,362,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Gatad2a
|
UTSW |
8 |
70,362,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Gatad2a
|
UTSW |
8 |
70,369,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Gatad2a
|
UTSW |
8 |
70,365,782 (GRCm39) |
nonsense |
probably null |
|
|
R3762:Gatad2a
|
UTSW |
8 |
70,368,930 (GRCm39) |
splice site |
probably null |
|
|
R5241:Gatad2a
|
UTSW |
8 |
70,370,667 (GRCm39) |
nonsense |
probably null |
|
|
R5526:Gatad2a
|
UTSW |
8 |
70,388,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5532:Gatad2a
|
UTSW |
8 |
70,369,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Gatad2a
|
UTSW |
8 |
70,370,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Gatad2a
|
UTSW |
8 |
70,362,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Gatad2a
|
UTSW |
8 |
70,388,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Gatad2a
|
UTSW |
8 |
70,370,381 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9752:Gatad2a
|
UTSW |
8 |
70,364,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Gatad2a
|
UTSW |
8 |
70,388,688 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACACTCTGGTCCTTTAGTCTG -3'
(R):5'- AGAAGGTGCCTGTGCTCTAC -3'
Sequencing Primer
(F):5'- CTTTAGTCTGTGGGAGCCCC -3'
(R):5'- GTGCTCTACTGCCCCAGAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation