Incidental Mutation 'R7071:Gatad1'
| ID |
548900 |
| 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 |
045167-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R7071 (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: 99.1%
|
| Validation Efficiency |
95% (41/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,449,503 (GRCm39) |
Q854* |
probably null |
Het |
| Arl2bp |
G |
T |
8: 95,393,794 (GRCm39) |
|
probably benign |
Het |
| Astl |
T |
C |
2: 127,187,885 (GRCm39) |
M121T |
probably benign |
Het |
| Atrip |
T |
C |
9: 108,896,082 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
T |
1: 193,042,117 (GRCm39) |
V44E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,866,455 (GRCm39) |
H804R |
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,792,099 (GRCm39) |
S314P |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,577 (GRCm39) |
I440L |
possibly damaging |
Het |
| Cfap61 |
T |
G |
2: 145,843,832 (GRCm39) |
I306R |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,446,787 (GRCm39) |
|
probably null |
Het |
| Cntln |
T |
A |
4: 85,018,622 (GRCm39) |
L76Q |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,795 (GRCm39) |
C636R |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 161,847,412 (GRCm39) |
H148Q |
probably damaging |
Het |
| Dot1l |
T |
A |
10: 80,628,079 (GRCm39) |
L1039Q |
probably benign |
Het |
| Faiml |
T |
A |
9: 99,118,400 (GRCm39) |
M1L |
unknown |
Het |
| Fat1 |
T |
G |
8: 45,442,145 (GRCm39) |
I1149S |
possibly damaging |
Het |
| Gm11938 |
A |
T |
11: 99,493,910 (GRCm39) |
C62S |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,292,475 (GRCm39) |
L423S |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,479,853 (GRCm39) |
C4582S |
probably damaging |
Het |
| Ifitm3 |
A |
G |
7: 140,590,437 (GRCm39) |
V41A |
probably benign |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Khsrp |
C |
A |
17: 57,332,386 (GRCm39) |
M268I |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 41,298,276 (GRCm39) |
D1036A |
|
Het |
| Mecom |
T |
G |
3: 30,034,857 (GRCm39) |
H273P |
probably damaging |
Het |
| Mfn1 |
G |
A |
3: 32,622,544 (GRCm39) |
V601I |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,714,653 (GRCm39) |
T811A |
probably damaging |
Het |
| Ndfip2 |
A |
C |
14: 105,539,760 (GRCm39) |
N292H |
possibly damaging |
Het |
| Or2ak5 |
C |
A |
11: 58,610,984 (GRCm39) |
V297F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,916,747 (GRCm39) |
C895S |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,667 (GRCm39) |
S573P |
unknown |
Het |
| Ptprn |
A |
T |
1: 75,237,263 (GRCm39) |
M113K |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,807 (GRCm39) |
H445R |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,328,659 (GRCm39) |
F2853V |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,636,277 (GRCm39) |
F647Y |
unknown |
Het |
| Stt3b |
T |
C |
9: 115,083,085 (GRCm39) |
Y449C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Zfp451 |
A |
C |
1: 33,815,825 (GRCm39) |
D708E |
possibly damaging |
Het |
| Zfp456 |
T |
C |
13: 67,520,896 (GRCm39) |
E33G |
probably damaging |
Het |
| Zfp599 |
T |
C |
9: 22,169,392 (GRCm39) |
T27A |
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 |
|
R6973:Gatad1
|
UTSW |
5 |
3,693,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- GTTTCTGTGATTGATGAGCAAGATG -3'
Sequencing Primer
(F):5'- CCCTAAATGGTGAGACTGGTGTCC -3'
(R):5'- ATGGGAAGCCGTACTATGCTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation