Incidental Mutation 'R6973:Gatad1'
| ID |
543704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gatad1
|
| Ensembl Gene |
ENSMUSG00000007415 |
| Gene Name |
GATA zinc finger domain containing 1 |
| Synonyms |
2310031E19Rik, 8430439A17Rik, 2810047M21Rik, 9130430G15Rik, B330017N08Rik, Odag |
| MMRRC Submission |
045083-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R6973 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3689961-3697936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3693540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 210
(R210G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007559]
[ENSMUST00000119783]
[ENSMUST00000140871]
[ENSMUST00000196304]
|
| AlphaFold |
Q920S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007559
|
| SMART Domains |
Protein: ENSMUSP00000007559
Gene: ENSMUSG00000007415
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gnf__
|
7 |
33 |
9e-5 |
SMART |
|
low complexity region
|
34 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119783
AA Change: R210G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113271
Gene: ENSMUSG00000007415
AA Change: R210G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATA
|
9 |
36 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140871
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196304
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (37/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,331,866 (GRCm39) |
C1461* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,690,794 (GRCm39) |
N315S |
probably damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| C2cd4d |
G |
T |
3: 94,271,130 (GRCm39) |
R132L |
probably damaging |
Het |
| Cd244a |
A |
G |
1: 171,401,775 (GRCm39) |
Y167C |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,099,825 (GRCm39) |
N1666D |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,386,648 (GRCm39) |
I1539T |
possibly damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Dgka |
C |
T |
10: 128,565,463 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
G |
5: 137,368,066 (GRCm39) |
V737G |
probably damaging |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Exoc4 |
G |
T |
6: 33,556,965 (GRCm39) |
C490F |
probably damaging |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,479 (GRCm39) |
M192V |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,789,671 (GRCm39) |
K115R |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or52h7 |
G |
A |
7: 104,214,183 (GRCm39) |
V252I |
probably benign |
Het |
| Or8u3-ps |
C |
T |
2: 85,953,198 (GRCm39) |
T310I |
probably benign |
Het |
| Pcdhb2 |
G |
C |
18: 37,429,416 (GRCm39) |
R463P |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,875,526 (GRCm39) |
D78V |
possibly damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Prelid3b |
C |
A |
2: 174,311,155 (GRCm39) |
W59L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,182,967 (GRCm39) |
S405R |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,422,217 (GRCm39) |
Q248* |
probably null |
Het |
| Rspo4 |
T |
A |
2: 151,709,735 (GRCm39) |
C47S |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,596,656 (GRCm39) |
M2499I |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,890,521 (GRCm39) |
I433T |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,867,649 (GRCm39) |
*431W |
probably null |
Het |
| Tert |
A |
G |
13: 73,776,107 (GRCm39) |
E286G |
probably benign |
Het |
| Tnni3 |
A |
G |
7: 4,521,416 (GRCm39) |
I196T |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 102,964,699 (GRCm39) |
I49T |
possibly damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
Het |
| Znfx1 |
T |
A |
2: 166,898,681 (GRCm39) |
H81L |
probably benign |
Het |
|
| Other mutations in Gatad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1183:Gatad1
|
UTSW |
5 |
3,693,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1189:Gatad1
|
UTSW |
5 |
3,693,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Gatad1
|
UTSW |
5 |
3,693,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3120:Gatad1
|
UTSW |
5 |
3,691,456 (GRCm39) |
nonsense |
probably null |
|
|
R4463:Gatad1
|
UTSW |
5 |
3,697,404 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6974:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6975:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7068:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7071:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7673:Gatad1
|
UTSW |
5 |
3,696,867 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7948:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8013:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8028:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8033:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8036:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8068:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8069:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8070:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8127:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8963:Gatad1
|
UTSW |
5 |
3,691,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Gatad1
|
UTSW |
5 |
3,691,442 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
RF015:Gatad1
|
UTSW |
5 |
3,697,523 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGGTAATCATGGTCAAA -3'
(R):5'- TGTTTCTGTGATTGATGAGCAAGA -3'
Sequencing Primer
(F):5'- CCCTAAATGGTGAGACTGGTGTCC -3'
(R):5'- ATGGGAAGCCGTACTATGCTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation