Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Gata4'

209065

Institutional Source

Beutler Lab

Gene Symbol

Gata4

Ensembl Gene

ENSMUSG00000021944

Gene Name

GATA binding protein 4

Synonyms

Gata-4

MMRRC Submission

039901-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63436371-63509141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63442144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 20 (P20Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113451 (fasta)

Gene Model

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

AlphaFold

Q08369

Predicted Effect

probably damaging
Transcript: ENSMUST00000067417
AA Change: P226Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944
AA Change: P226Q

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: P225Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944
AA Change: P225Q

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: P20Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113451
Gene: ENSMUSG00000021944
AA Change: P20Q

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: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Btnl2	A	G	17: 34,584,337 (GRCm39)	E420G	possibly damaging	Het
Capn2	A	G	1: 182,316,581 (GRCm39)	W293R	probably damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Ell3	T	C	2: 121,270,792 (GRCm39)	D247G	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Fbxo43	T	C	15: 36,162,661 (GRCm39)	D182G	probably benign	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Patj	C	T	4: 98,385,477 (GRCm39)	P364S	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Usp38	T	C	8: 81,727,695 (GRCm39)	E346G	probably damaging	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zfp759	T	C	13: 67,287,276 (GRCm39)	C276R	probably damaging	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	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
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'- CTCAAAGCCAAGTTCAGGGAGG -3'
(R):5'- TCTTAAACAGCCCTGGATGG -3'

Sequencing Primer
(F):5'- GAGGGGAGAACCTGACTGCTC -3'
(R):5'- TGGAACCCACTGGCCATTC -3'

Posted On

2014-06-30