Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:Gata4'

424203

Institutional Source

Beutler Lab

Gene Symbol

Gata4

Ensembl Gene

ENSMUSG00000021944

Gene Name

GATA binding protein 4

Synonyms

Gata-4

MMRRC Submission

042937-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5358 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

63436371-63509141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63478075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 175 (A175T)

Ref Sequence

ENSEMBL: ENSMUSP00000066927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067417] [ENSMUST00000118022] [ENSMUST00000132122] [ENSMUST00000137244] [ENSMUST00000156782]

AlphaFold

Q08369

Predicted Effect

probably benign
Transcript: ENSMUST00000067417
AA Change: A175T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944
AA Change: A175T

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: A175T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944
AA Change: A175T

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: ENSMUST00000132122

Predicted Effect

probably benign
Transcript: ENSMUST00000137244

Predicted Effect

probably benign
Transcript: ENSMUST00000156782

Meta Mutation Damage Score

0.1964

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,849,165 (GRCm39)	V1842A	probably damaging	Het
Abi3	A	T	11: 95,732,934 (GRCm39)	F13L	probably benign	Het
Adgre4	A	G	17: 56,125,758 (GRCm39)	K538R	probably benign	Het
Bcas3	C	T	11: 85,342,581 (GRCm39)	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,886,538 (GRCm39)	T376A	probably benign	Het
Ceacam18	C	A	7: 43,286,497 (GRCm39)	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,709,224 (GRCm39)	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,989,148 (GRCm39)		probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Chrm2	A	G	6: 36,500,290 (GRCm39)	K49R	probably damaging	Het
Ciao2b	T	C	8: 105,368,282 (GRCm39)	N14S	probably damaging	Het
Daam1	T	A	12: 71,999,233 (GRCm39)	L623*	probably null	Het
Ddx31	T	A	2: 28,753,782 (GRCm39)	C448S	probably damaging	Het
Dnah7a	A	G	1: 53,586,331 (GRCm39)	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,965,928 (GRCm39)	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,057,432 (GRCm39)	R247H	probably damaging	Het
Exoc4	A	G	6: 33,242,934 (GRCm39)	E49G	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxj3	A	G	4: 119,476,596 (GRCm39)	E258G	probably damaging	Het
Helz2	C	T	2: 180,877,321 (GRCm39)	E1106K	probably damaging	Het
Hip1	G	T	5: 135,465,252 (GRCm39)	S385R	probably benign	Het
Igsf9	C	T	1: 172,312,078 (GRCm39)	T8I	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Katnal2	A	G	18: 77,105,190 (GRCm39)	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 105,918,417 (GRCm39)	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,535,432 (GRCm39)	R570*	probably null	Het
Kif16b	T	A	2: 142,582,889 (GRCm39)	R545S	probably damaging	Het
Kif21b	T	A	1: 136,100,030 (GRCm39)	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,730,571 (GRCm39)		probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mknk2	T	C	10: 80,507,597 (GRCm39)	T60A	probably benign	Het
Ncoa6	T	C	2: 155,248,907 (GRCm39)	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,704,083 (GRCm39)	T109P	probably damaging	Het
Nup214	C	A	2: 31,907,158 (GRCm39)	S995Y	unknown	Het
Or2a5	A	T	6: 42,873,454 (GRCm39)	Q23L	probably benign	Het
Pclo	T	A	5: 14,762,750 (GRCm39)	L456*	probably null	Het
Pde5a	A	G	3: 122,541,825 (GRCm39)	D105G	probably damaging	Het
Pik3c3	C	A	18: 30,456,597 (GRCm39)	P709H	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rab3c	T	C	13: 110,198,497 (GRCm39)	N179S	possibly damaging	Het
Setdb2	T	A	14: 59,646,885 (GRCm39)	R559S	probably benign	Het
Sf3b1	A	G	1: 55,042,469 (GRCm39)	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,712,155 (GRCm39)	W228L	probably benign	Het
Slc8a2	T	G	7: 15,891,228 (GRCm39)	I750S	probably damaging	Het
Slco2b1	T	A	7: 99,309,251 (GRCm39)	I194L	unknown	Het
Smarcd1	C	T	15: 99,601,128 (GRCm39)	Q45*	probably null	Het
Srcap	T	G	7: 127,139,492 (GRCm39)	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330 (GRCm39)	N9Y	probably damaging	Het
St7	T	C	6: 17,819,317 (GRCm39)	S74P	probably damaging	Het
Stxbp5l	T	A	16: 36,994,688 (GRCm39)	E739V	probably damaging	Het
Sun3	T	A	11: 8,981,496 (GRCm39)	Q36L	possibly damaging	Het
Tbc1d32	T	C	10: 56,047,033 (GRCm39)	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,296,994 (GRCm39)	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,526,939 (GRCm39)	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,376,717 (GRCm39)	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,227,949 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,903,332 (GRCm39)	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,378,292 (GRCm39)	K381E	probably benign	Het
Uaca	T	C	9: 60,778,430 (GRCm39)	V937A	probably benign	Het
Umod	C	T	7: 119,071,577 (GRCm39)	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,924,412 (GRCm39)		probably null	Het
Zbtb47	T	A	9: 121,594,661 (GRCm39)	F540Y	probably damaging	Het
Zfp644	G	A	5: 106,783,541 (GRCm39)	T1002I	probably damaging	Het
Zfp738	A	G	13: 67,819,131 (GRCm39)	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,644,771 (GRCm39)	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,361,352 (GRCm39)		probably null	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
R5198:Gata4	UTSW	14	63,437,900 (GRCm39)	missense	probably benign	0.09
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
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'- AGTCTCTGACTTCTGGGCTG -3'
(R):5'- GCACACCCGCATTCTAGTTC -3'

Sequencing Primer
(F):5'- CTTCCTGGGAGGCTCCTTG -3'
(R):5'- TCTTTCCCGGGGACTACTGG -3'

Posted On

2016-08-04