Mutagenetix > Incidental Mutation

Incidental Mutation 'R7143:Gata4'

553573

Institutional Source

Beutler Lab

Gene Symbol

Gata4

Ensembl Gene

ENSMUSG00000021944

Gene Name

GATA binding protein 4

Synonyms

Gata-4

MMRRC Submission

045222-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63436371-63509141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63442066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 252 (R252L)

Ref Sequence

ENSEMBL: ENSMUSP00000066927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067417] [ENSMUST00000118022] [ENSMUST00000121312]

AlphaFold

Q08369

Predicted Effect

probably damaging
Transcript: ENSMUST00000067417
AA Change: R252L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944
AA Change: R252L

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: R251L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944
AA Change: R251L

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 damaging
Transcript: ENSMUST00000121312
AA Change: R46L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113451
Gene: ENSMUSG00000021944
AA Change: R46L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	C	T	7: 103,708,422 (GRCm39)	C129Y	probably damaging	Het
Agbl4	A	G	4: 111,474,333 (GRCm39)	N374S	probably damaging	Het
Agl	A	G	3: 116,585,670 (GRCm39)	S153P	probably damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Ankrd17	C	A	5: 90,433,820 (GRCm39)	A650S	possibly damaging	Het
Ankrd53	A	G	6: 83,739,893 (GRCm39)	R16G	possibly damaging	Het
Apba2	T	C	7: 64,394,165 (GRCm39)	L570P	probably damaging	Het
Asap1	A	G	15: 64,063,377 (GRCm39)	F101L	probably damaging	Het
Cadm4	T	A	7: 24,198,992 (GRCm39)	I89N	possibly damaging	Het
Cadps	C	T	14: 12,491,838 (GRCm38)	V771I	probably benign	Het
Cenph	A	G	13: 100,898,285 (GRCm39)	V206A	possibly damaging	Het
Cenpn	A	G	8: 117,663,966 (GRCm39)	T253A	probably benign	Het
Cep120	C	T	18: 53,816,457 (GRCm39)	G939R	probably benign	Het
Cfap57	G	A	4: 118,477,906 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,791,673 (GRCm39)	I166V	probably benign	Het
Cstf3	T	A	2: 104,476,961 (GRCm39)	V144E	probably benign	Het
Cyp21a1	T	A	17: 35,021,300 (GRCm39)	H357L	probably damaging	Het
Cyth3	T	A	5: 143,670,151 (GRCm39)	V12E	unknown	Het
Dgat2	T	C	7: 98,806,331 (GRCm39)	I289V	probably benign	Het
Dip2a	A	G	10: 76,133,625 (GRCm39)	C527R	probably damaging	Het
Dnah17	A	C	11: 117,976,956 (GRCm39)	W1879G	probably damaging	Het
Dnai2	A	G	11: 114,645,076 (GRCm39)	T504A	possibly damaging	Het
Efl1	C	T	7: 82,411,888 (GRCm39)	P759L	probably damaging	Het
Egfr	A	C	11: 16,821,627 (GRCm39)	I351L	probably benign	Het
Ercc6	G	A	14: 32,292,262 (GRCm39)	E1209K	probably damaging	Het
Fam135b	A	T	15: 71,351,000 (GRCm39)	M292K	probably benign	Het
Fbxl7	C	A	15: 26,543,244 (GRCm39)	V468L	probably benign	Het
Fhl2	G	T	1: 43,181,011 (GRCm39)	H60N	probably damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Glt8d1	T	A	14: 30,728,602 (GRCm39)	I10N	probably damaging	Het
Gm10803	T	A	2: 93,394,304 (GRCm39)	Y25*	probably null	Het
Gm19345	T	C	7: 19,591,759 (GRCm39)	F108S	unknown	Het
Gm4952	A	G	19: 12,595,771 (GRCm39)	T54A	possibly damaging	Het
Gprc6a	C	T	10: 51,490,986 (GRCm39)	R921H	probably benign	Het
Hc	A	T	2: 34,940,450 (GRCm39)	H129Q	probably benign	Het
Heatr5a	T	C	12: 52,008,251 (GRCm39)	R31G	probably benign	Het
Hephl1	T	C	9: 14,972,106 (GRCm39)	K945E	possibly damaging	Het
Ik	G	T	18: 36,884,230 (GRCm39)	M237I	probably damaging	Het
Izumo1	T	A	7: 45,276,519 (GRCm39)	S361T	probably benign	Het
Kcnq4	A	G	4: 120,568,436 (GRCm39)	F427L	probably benign	Het
Kifap3	T	A	1: 163,683,609 (GRCm39)	M430K	possibly damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Lamb3	A	G	1: 192,986,873 (GRCm39)	E53G	probably damaging	Het
Lrp1b	A	T	2: 41,202,655 (GRCm39)	I1266K		Het
Nat8	A	T	6: 85,807,485 (GRCm39)	I216K	probably benign	Het
Ncapd2	T	C	6: 125,156,524 (GRCm39)	I454V	probably benign	Het
Nlrp4f	A	T	13: 65,343,120 (GRCm39)	V153E	probably damaging	Het
Nlrp4f	G	C	13: 65,347,166 (GRCm39)	Q9E	possibly damaging	Het
Npy2r	A	T	3: 82,448,250 (GRCm39)	I175N	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or1l4b	A	G	2: 37,036,886 (GRCm39)	T221A	probably benign	Het
Or4a74	T	C	2: 89,440,363 (GRCm39)	M28V	probably benign	Het
Or52n3	C	T	7: 104,530,393 (GRCm39)	P160S	probably damaging	Het
Pcdh9	T	C	14: 94,125,708 (GRCm39)	N154S	probably damaging	Het
Pcdhb2	A	T	18: 37,428,934 (GRCm39)	E302D	probably benign	Het
Pclo	T	A	5: 14,908,836 (GRCm39)	V5048E	unknown	Het
Pcnt	A	G	10: 76,224,894 (GRCm39)	L1870S	possibly damaging	Het
Pigc	T	C	1: 161,798,161 (GRCm39)	Y48H	probably damaging	Het
Pisd	C	T	5: 32,895,846 (GRCm39)	V241I	possibly damaging	Het
Pkhd1l1	A	T	15: 44,437,033 (GRCm39)	M3464L	possibly damaging	Het
Pofut2	T	A	10: 77,095,260 (GRCm39)	I35N	probably benign	Het
Prss27	A	G	17: 24,264,632 (GRCm39)	Y265C	probably damaging	Het
Prss56	T	A	1: 87,115,875 (GRCm39)	I583K	probably benign	Het
Rnpep	T	C	1: 135,211,487 (GRCm39)	E87G	probably benign	Het
Shtn1	T	C	19: 59,007,338 (GRCm39)	H304R	probably damaging	Het
Slc23a4	A	T	6: 34,955,848 (GRCm39)	I62N	probably damaging	Het
Slc35e2	A	T	4: 155,703,051 (GRCm39)	I355F	probably benign	Het
Snx25	T	C	8: 46,488,752 (GRCm39)	I868V	possibly damaging	Het
Spatc1l	T	A	10: 76,405,765 (GRCm39)	L323Q	probably damaging	Het
Speer4a2	T	A	5: 26,290,674 (GRCm39)	I166F	probably benign	Het
Taok1	A	G	11: 77,428,814 (GRCm39)	V962A	probably benign	Het
Tas2r140	A	G	6: 133,032,482 (GRCm39)	I92T	probably benign	Het
Trim17	C	A	11: 58,856,010 (GRCm39)	Y22*	probably null	Het
Tti1	T	A	2: 157,849,596 (GRCm39)	M548L	probably benign	Het
Unc93b1	T	C	19: 3,985,204 (GRCm39)	V4A	unknown	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r225	A	T	17: 20,722,646 (GRCm39)	Y29F	probably benign	Het
Vmn1r34	A	T	6: 66,614,648 (GRCm39)	I30N	probably benign	Het
Vmn2r67	T	A	7: 84,801,846 (GRCm39)	M152L	probably benign	Het
Wdr20rt	T	G	12: 65,272,692 (GRCm39)	F52V	probably benign	Het
Zfp869	G	T	8: 70,159,306 (GRCm39)	H422Q	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
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
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'- TGGAGCGAGTGCAAGTTCAC -3'
(R):5'- TCTAGGTGAAAGGTCTCTGAGC -3'

Sequencing Primer
(F):5'- CTCTAAGAGTGTGAGAGGCTCC -3'
(R):5'- CTAGGTGAAAGGTCTCTGAGCAAAAC -3'

Posted On

2019-05-15