Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Gata4'

405164

Institutional Source

Beutler Lab

Gene Symbol

Gata4

Ensembl Gene

ENSMUSG00000021944

Gene Name

GATA binding protein 4

Synonyms

Gata-4

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63436371-63509141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 63478048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 184 (F184V)

Ref Sequence

ENSEMBL: ENSMUSP00000113891 (fasta)

Gene Model

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

AlphaFold

Q08369

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067417
AA Change: F184V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944
AA Change: F184V

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 damaging
Transcript: ENSMUST00000118022
AA Change: F184V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944
AA Change: F184V

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,394 (GRCm39)	S328G	probably damaging	Het
Acot5	T	G	12: 84,120,293 (GRCm39)	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446 (GRCm39)	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,795,294 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,540,293 (GRCm39)	Y358H	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Camk2a	A	G	18: 61,090,236 (GRCm39)	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,171,256 (GRCm39)	R223W	probably damaging	Het
Cntn6	T	A	6: 104,703,096 (GRCm39)	F173I	probably damaging	Het
Cntrl	A	C	2: 35,024,072 (GRCm39)	I33L	probably damaging	Het
Crybg2	T	C	4: 133,800,738 (GRCm39)	S633P	probably benign	Het
Cyp2j13	T	C	4: 95,956,566 (GRCm39)	H181R	probably damaging	Het
Dlgap1	A	G	17: 71,025,205 (GRCm39)	S542G	probably benign	Het
Dnm2	T	G	9: 21,390,203 (GRCm39)	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,697,144 (GRCm39)	V23L	probably benign	Het
Gcnt2	A	G	13: 41,072,268 (GRCm39)	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,698,969 (GRCm39)		probably benign	Het
Gm26558	G	A	2: 70,491,873 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,922,874 (GRCm39)	V1107I	probably benign	Het
Herpud2	C	T	9: 25,036,256 (GRCm39)	G135S	probably benign	Het
Lrp1	A	G	10: 127,429,747 (GRCm39)	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,793,015 (GRCm39)	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,467,416 (GRCm39)	N43K	possibly damaging	Het
Or4c12	A	T	2: 89,773,780 (GRCm39)	Y226*	probably null	Het
Or5k17	T	C	16: 58,746,764 (GRCm39)	T57A	possibly damaging	Het
Paxbp1	C	T	16: 90,841,240 (GRCm39)	M1I	probably null	Het
Phip	A	G	9: 82,827,936 (GRCm39)	Y97H	probably damaging	Het
Plec	T	A	15: 76,058,211 (GRCm39)	I3774F	probably damaging	Het
Pramel11	G	T	4: 143,622,237 (GRCm39)	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,533,151 (GRCm39)		probably benign	Het
Prss12	T	C	3: 123,299,112 (GRCm39)	L628P	probably damaging	Het
Ptpre	G	A	7: 135,280,030 (GRCm39)	V578I	probably benign	Het
Qsox2	A	T	2: 26,107,710 (GRCm39)	L261H	probably damaging	Het
Rapgef2	A	T	3: 78,977,366 (GRCm39)	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,075,967 (GRCm39)	S306P	probably benign	Het
Rtel1	A	G	2: 180,993,888 (GRCm39)	Q640R	possibly damaging	Het
Ryr1	T	A	7: 28,815,023 (GRCm39)	D175V	probably benign	Het
Scarf1	T	C	11: 75,414,900 (GRCm39)	S525P	probably damaging	Het
Senp7	T	A	16: 56,006,542 (GRCm39)	Y982*	probably null	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Sned1	A	G	1: 93,223,446 (GRCm39)	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,076,422 (GRCm39)	A167S	probably benign	Het
Spen	C	A	4: 141,215,390 (GRCm39)	A481S	unknown	Het
Spred3	T	A	7: 28,867,255 (GRCm39)	H47L	probably damaging	Het
Srsf4	T	A	4: 131,613,617 (GRCm39)		probably benign	Het
Tdrd3	A	T	14: 87,743,234 (GRCm39)	H394L	probably benign	Het
Terf1	A	G	1: 15,889,310 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,675,144 (GRCm39)	D99V	possibly damaging	Het
Ugt1a7c	A	T	1: 88,023,231 (GRCm39)	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 9,781,752 (GRCm39)	D331V	probably damaging	Het
Vps13d	A	G	4: 144,789,139 (GRCm39)	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,983,547 (GRCm39)	D664G	probably damaging	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
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'- AGTCTCTGACTTCTGGGCTG -3'
(R):5'- TTGGGGCGATGTACCAAAGC -3'

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

Posted On

2016-07-22