Incidental Mutation 'R5198:Gata4'
| ID |
400514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gata4
|
| Ensembl Gene |
ENSMUSG00000021944 |
| Gene Name |
GATA binding protein 4 |
| Synonyms |
Gata-4 |
| MMRRC Submission |
042774-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5198 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
63436371-63509141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63437900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 417
(S417L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067417]
[ENSMUST00000118022]
[ENSMUST00000121312]
|
| AlphaFold |
Q08369 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067417
AA Change: S418L
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944
AA Change: S418L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATA-N
|
1 |
204 |
2.2e-54 |
PFAM |
|
ZnF_GATA
|
211 |
261 |
4.36e-18 |
SMART |
|
ZnF_GATA
|
265 |
315 |
1.02e-23 |
SMART |
|
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118022
AA Change: S417L
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944
AA Change: S417L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATA-N
|
1 |
207 |
7.8e-54 |
PFAM |
|
ZnF_GATA
|
210 |
260 |
4.36e-18 |
SMART |
|
ZnF_GATA
|
264 |
314 |
1.02e-23 |
SMART |
|
low complexity region
|
341 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121312
AA Change: S212L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113451
Gene: ENSMUSG00000021944
AA Change: S212L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_GATA
|
5 |
55 |
4.36e-18 |
SMART |
|
ZnF_GATA
|
59 |
109 |
1.02e-23 |
SMART |
|
low complexity region
|
136 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
184 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in ventral morphogenesis, lack a primitive heart tube and foregut, develop partially outside the yolk sac, and die by midgestation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,571,726 (GRCm39) |
V1121A |
probably benign |
Het |
| Adamtsl3 |
A |
C |
7: 82,261,006 (GRCm39) |
K1647Q |
possibly damaging |
Het |
| Adgrb1 |
A |
T |
15: 74,415,550 (GRCm39) |
Q710L |
probably null |
Het |
| Alox12 |
T |
C |
11: 70,145,243 (GRCm39) |
E110G |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,429,544 (GRCm39) |
M738L |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,209,532 (GRCm39) |
V38A |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,405,552 (GRCm39) |
G79D |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dus3l |
A |
G |
17: 57,076,574 (GRCm39) |
I585V |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
| Fbxw15 |
C |
A |
9: 109,387,242 (GRCm39) |
S251I |
probably benign |
Het |
| Gdpd5 |
T |
A |
7: 99,087,515 (GRCm39) |
Y60N |
probably damaging |
Het |
| Gm17669 |
T |
C |
18: 67,695,626 (GRCm39) |
M57T |
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,173 (GRCm39) |
I34F |
probably benign |
Het |
| Iffo2 |
T |
A |
4: 139,302,528 (GRCm39) |
D90E |
probably benign |
Het |
| Il17c |
A |
G |
8: 123,149,108 (GRCm39) |
D84G |
possibly damaging |
Het |
| Itih3 |
T |
C |
14: 30,634,606 (GRCm39) |
T134A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,222,999 (GRCm39) |
A429V |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,851,521 (GRCm39) |
R806H |
probably damaging |
Het |
| Naaa |
G |
A |
5: 92,415,904 (GRCm39) |
R65* |
probably null |
Het |
| Nacc2 |
C |
T |
2: 25,950,346 (GRCm39) |
M463I |
probably benign |
Het |
| Nemf |
A |
G |
12: 69,402,821 (GRCm39) |
S72P |
probably damaging |
Het |
| Nudt7 |
G |
A |
8: 114,862,185 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
C |
2: 90,126,737 (GRCm39) |
Q156R |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,331,936 (GRCm39) |
S4P |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,189,325 (GRCm39) |
D757G |
probably benign |
Het |
| Pkd2 |
A |
C |
5: 104,630,958 (GRCm39) |
I461L |
probably benign |
Het |
| Potegl |
G |
A |
2: 23,102,473 (GRCm39) |
C121Y |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,000,064 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
G |
C |
14: 45,096,300 (GRCm39) |
F137L |
probably damaging |
Het |
| Pum1 |
T |
A |
4: 130,507,190 (GRCm39) |
C1085* |
probably null |
Het |
| Rfx3 |
T |
C |
19: 27,808,176 (GRCm39) |
D189G |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,005,750 (GRCm39) |
K1077* |
probably null |
Het |
| Slc25a30 |
C |
A |
14: 76,007,056 (GRCm39) |
D147Y |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,873,984 (GRCm39) |
E22G |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,245,519 (GRCm39) |
T1098A |
probably benign |
Het |
| Tbcc |
T |
C |
17: 47,201,788 (GRCm39) |
F58S |
probably damaging |
Het |
| Tekt3 |
G |
A |
11: 62,961,134 (GRCm39) |
R101H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,838,991 (GRCm39) |
E2184D |
probably damaging |
Het |
| Vkorc1 |
T |
C |
7: 127,493,760 (GRCm39) |
E18G |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,723 (GRCm39) |
H125R |
probably benign |
Het |
| Vmn2r63 |
C |
A |
7: 42,553,169 (GRCm39) |
V696L |
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,208,620 (GRCm39) |
H421Y |
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,896,873 (GRCm39) |
Y576H |
probably damaging |
Het |
| Zfp112 |
T |
C |
7: 23,824,281 (GRCm39) |
V83A |
possibly damaging |
Het |
| Zfp616 |
G |
A |
11: 73,974,336 (GRCm39) |
V293I |
probably benign |
Het |
|
| Other mutations in Gata4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02199:Gata4
|
APN |
14 |
63,437,912 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02481:Gata4
|
APN |
14 |
63,437,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02483:Gata4
|
APN |
14 |
63,437,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02643:Gata4
|
APN |
14 |
63,442,204 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0034:Gata4
|
UTSW |
14 |
63,438,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0043:Gata4
|
UTSW |
14 |
63,440,750 (GRCm39) |
splice site |
probably benign |
|
|
R1131:Gata4
|
UTSW |
14 |
63,442,189 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1880:Gata4
|
UTSW |
14 |
63,442,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3500:Gata4
|
UTSW |
14 |
63,437,982 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3949:Gata4
|
UTSW |
14 |
63,478,146 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4893:Gata4
|
UTSW |
14 |
63,439,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4976:Gata4
|
UTSW |
14 |
63,441,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Gata4
|
UTSW |
14 |
63,478,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5237:Gata4
|
UTSW |
14 |
63,478,075 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5291:Gata4
|
UTSW |
14 |
63,478,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5358:Gata4
|
UTSW |
14 |
63,478,075 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5693:Gata4
|
UTSW |
14 |
63,478,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Gata4
|
UTSW |
14 |
63,442,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Gata4
|
UTSW |
14 |
63,441,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Gata4
|
UTSW |
14 |
63,478,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7849:Gata4
|
UTSW |
14 |
63,442,174 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8186:Gata4
|
UTSW |
14 |
63,438,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8673:Gata4
|
UTSW |
14 |
63,478,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8883:Gata4
|
UTSW |
14 |
63,442,204 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9628:Gata4
|
UTSW |
14 |
63,478,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Gata4
|
UTSW |
14 |
63,478,714 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Gata4
|
UTSW |
14 |
63,437,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTTGTTCTTCAGGAGTTG -3'
(R):5'- AGGGAAGCAGCTAGTCTTACTC -3'
Sequencing Primer
(F):5'- TTGTTCCCAGACAAAGGGGCTG -3'
(R):5'- AAGCAGCTAGTCTTACTCCCTCATTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation