Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Gata4'

64601

Institutional Source

Beutler Lab

Gene Symbol

Gata4

Ensembl Gene

ENSMUSG00000021944

Gene Name

GATA binding protein 4

Synonyms

Gata-4

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0034 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

63436371-63509141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63438933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 381 (M381I)

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: M382I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944
AA Change: M382I

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: M381I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944
AA Change: M381I

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: M176I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113451
Gene: ENSMUSG00000021944
AA Change: M176I

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: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	C	T	7: 136,989,321 (GRCm39)	R60Q	probably benign	Het
Angpt4	C	T	2: 151,771,311 (GRCm39)	T209I	probably benign	Het
Ap3b1	T	C	13: 94,616,393 (GRCm39)		probably benign	Het
Aplp1	A	C	7: 30,143,867 (GRCm39)	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846 (GRCm38)	H844L	probably damaging	Het
Cd14	A	G	18: 36,859,288 (GRCm39)	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,819,225 (GRCm39)	V135I	probably damaging	Het
Cep152	C	T	2: 125,425,813 (GRCm39)	A851T	probably benign	Het
Cfap74	C	T	4: 155,545,344 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,175,708 (GRCm39)	I47L	probably benign	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Eef1d	T	C	15: 75,774,808 (GRCm39)	T200A	probably benign	Het
Exoc1l	A	G	5: 76,664,377 (GRCm39)	I155M	probably damaging	Het
Faap100	A	T	11: 120,262,973 (GRCm39)	M795K	probably benign	Het
Gabpb1	C	T	2: 126,500,454 (GRCm39)	R15Q	possibly damaging	Het
Gm5114	A	G	7: 39,058,282 (GRCm39)	S446P	possibly damaging	Het
Gnb1	T	A	4: 155,636,146 (GRCm39)	N155K	probably benign	Het
Haspin	G	A	11: 73,029,044 (GRCm39)	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,971,955 (GRCm39)	L745P	probably damaging	Het
Kcng3	T	A	17: 83,895,812 (GRCm39)		probably benign	Het
Kif15	A	T	9: 122,828,350 (GRCm39)	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,135,397 (GRCm39)		probably benign	Het
Kif9	G	A	9: 110,348,679 (GRCm39)	C738Y	probably benign	Het
Kifc2	G	T	15: 76,551,300 (GRCm39)	C613F	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,381,520 (GRCm39)	I3826N	probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,093,913 (GRCm39)	S2006P	probably damaging	Het
Or51m1	T	C	7: 103,578,708 (GRCm39)	V226A	probably benign	Het
Pax4	T	C	6: 28,442,448 (GRCm39)	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,455,137 (GRCm39)	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,367,405 (GRCm39)	G768S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Poteg	A	G	8: 27,952,105 (GRCm39)		probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Rhobtb2	T	C	14: 70,026,137 (GRCm39)	T602A	probably benign	Het
Samd3	G	A	10: 26,147,398 (GRCm39)		probably benign	Het
Sbno2	A	C	10: 79,894,174 (GRCm39)		probably benign	Het
Sec1	A	G	7: 45,328,759 (GRCm39)	V96A	probably benign	Het
Senp7	A	C	16: 55,973,933 (GRCm39)	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Sgpl1	A	T	10: 60,938,392 (GRCm39)	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,779,618 (GRCm39)	I66T	probably benign	Het
Stra6	G	A	9: 58,058,752 (GRCm39)		probably null	Het
Tfrc	T	A	16: 32,434,214 (GRCm39)		probably null	Het
Tmem30b	T	C	12: 73,592,779 (GRCm39)	Y112C	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trpc1	A	G	9: 95,631,814 (GRCm39)	S43P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,322,292 (GRCm39)	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,314,738 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,435 (GRCm39)	W364R	probably damaging	Het
Wnk2	G	T	13: 49,221,556 (GRCm39)	T377K	possibly damaging	Het
Zfta	C	A	19: 7,397,724 (GRCm39)	H90Q	probably damaging	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	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
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
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'- GTTGTACTATCTGCCACATGCACCC -3'
(R):5'- GCCCTATTTTGAGAACTGCTCCACC -3'

Sequencing Primer
(F):5'- GAAGGCGCTAAACCTTAAGC -3'
(R):5'- CTGTCCCTGTAGCTGGACTG -3'

Posted On

2013-08-06