Incidental Mutation 'R3120:Gatad1'
| ID |
263167 |
| 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 |
040593-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R3120 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3689961-3697936 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 3691456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 33
(Y33*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000007559]
[ENSMUST00000119783]
[ENSMUST00000121291]
[ENSMUST00000140871]
[ENSMUST00000196304]
|
| AlphaFold |
Q920S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006061
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX-2N
|
14 |
99 |
2.4e-53 |
PFAM |
|
Pfam:PEX-1N
|
103 |
179 |
8.6e-27 |
PFAM |
|
low complexity region
|
508 |
527 |
N/A |
INTRINSIC |
|
AAA
|
552 |
702 |
1.39e-10 |
SMART |
|
low complexity region
|
754 |
765 |
N/A |
INTRINSIC |
|
AAA
|
834 |
970 |
4.07e-17 |
SMART |
|
low complexity region
|
1024 |
1044 |
N/A |
INTRINSIC |
|
low complexity region
|
1051 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1078 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000007559
AA Change: Y245*
|
| SMART Domains |
Protein: ENSMUSP00000007559
Gene: ENSMUSG00000007415
AA Change: Y245*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113271
Gene: ENSMUSG00000007415
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATA
|
9 |
36 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121291
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX-2N
|
17 |
98 |
8.7e-38 |
PFAM |
|
Pfam:PEX-1N
|
104 |
179 |
1.4e-27 |
PFAM |
|
low complexity region
|
548 |
567 |
N/A |
INTRINSIC |
|
AAA
|
592 |
742 |
1.39e-10 |
SMART |
|
low complexity region
|
794 |
805 |
N/A |
INTRINSIC |
|
AAA
|
874 |
1010 |
4.07e-17 |
SMART |
|
low complexity region
|
1064 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1101 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140871
AA Change: Y28*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196304
AA Change: Y33*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199213
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsx |
A |
G |
9: 40,788,908 (GRCm39) |
K155R |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,891,987 (GRCm39) |
K162E |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,988,779 (GRCm39) |
R3351* |
probably null |
Het |
| Eml1 |
A |
G |
12: 108,479,312 (GRCm39) |
R362G |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,044,742 (GRCm39) |
L101P |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,430,400 (GRCm39) |
E276G |
probably damaging |
Het |
| Gclc |
A |
C |
9: 77,688,552 (GRCm39) |
E219A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,319,117 (GRCm39) |
V207A |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,215 (GRCm39) |
S170R |
probably benign |
Het |
| Hbq1a |
T |
C |
11: 32,250,472 (GRCm39) |
L87P |
probably damaging |
Het |
| Magea6 |
A |
T |
X: 153,707,291 (GRCm39) |
I255N |
probably benign |
Het |
| Mfsd12 |
T |
G |
10: 81,197,049 (GRCm39) |
V206G |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,203,762 (GRCm39) |
|
probably null |
Het |
| Nf1 |
C |
A |
11: 79,455,725 (GRCm39) |
T550K |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,342,530 (GRCm39) |
T372A |
probably benign |
Het |
| Or5p70 |
T |
C |
7: 107,994,930 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,466 (GRCm39) |
Y215H |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,537,367 (GRCm39) |
T253A |
probably benign |
Het |
| Polr2f |
T |
A |
15: 79,028,788 (GRCm39) |
|
probably null |
Het |
| Prph2 |
C |
T |
17: 47,234,298 (GRCm39) |
A289V |
possibly damaging |
Het |
| Ptdss2 |
C |
T |
7: 140,732,132 (GRCm39) |
H140Y |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,006,680 (GRCm39) |
I877L |
probably benign |
Het |
| Scgb2b2 |
T |
C |
7: 31,003,001 (GRCm39) |
L32S |
possibly damaging |
Het |
| Sfpq |
T |
A |
4: 126,915,926 (GRCm39) |
H239Q |
unknown |
Het |
| St6gal2 |
A |
T |
17: 55,789,111 (GRCm39) |
R48S |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,536,355 (GRCm39) |
D657G |
possibly damaging |
Het |
| Syt15 |
A |
G |
14: 33,944,950 (GRCm39) |
I166V |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,478 (GRCm39) |
T24K |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,499,474 (GRCm39) |
S1093P |
probably damaging |
Het |
| Tfap2c |
G |
A |
2: 172,399,015 (GRCm39) |
V396M |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,911,329 (GRCm39) |
T1544I |
possibly damaging |
Het |
| Trim28 |
A |
G |
7: 12,762,341 (GRCm39) |
T322A |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,707,626 (GRCm39) |
A121V |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,372,431 (GRCm39) |
W20R |
probably null |
Het |
| Zfp551 |
A |
G |
7: 12,149,943 (GRCm39) |
F489L |
possibly damaging |
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 |
|
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 |
|
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'- ACCTGGGCTATACATGAGACC -3'
(R):5'- AGAGTGCTGCTGCTGAAGTG -3'
Sequencing Primer
(F):5'- TGGGCTATACATGAGACCCTATC -3'
(R):5'- CTGCTGAAGTGTCTAAGATTGCTAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation