Mutagenetix > Incidental Mutation

Incidental Mutation 'R1222:Gata2'

152759

Institutional Source

Beutler Lab

Gene Symbol

Gata2

Ensembl Gene

ENSMUSG00000015053

Gene Name

GATA binding protein 2

Synonyms

Gata-2

MMRRC Submission

039291-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1222 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

88170873-88184014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88177323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 118 (V118I)

Ref Sequence

ENSEMBL: ENSMUSP00000128198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015197] [ENSMUST00000170089] [ENSMUST00000203480]

AlphaFold

O09100

Predicted Effect

probably benign
Transcript: ENSMUST00000015197
AA Change: V118I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000015197
Gene: ENSMUSG00000015053
AA Change: V118I

Domain	Start	End	E-Value	Type
low complexity region	103	114	N/A	INTRINSIC
low complexity region	143	158	N/A	INTRINSIC
low complexity region	182	201	N/A	INTRINSIC
ZnF_GATA	289	339	2.37e-19	SMART
ZnF_GATA	343	393	1.26e-23	SMART
low complexity region	399	409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170089
AA Change: V118I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128198
Gene: ENSMUSG00000015053
AA Change: V118I

Domain	Start	End	E-Value	Type
low complexity region	103	114	N/A	INTRINSIC
low complexity region	143	158	N/A	INTRINSIC
low complexity region	182	201	N/A	INTRINSIC
ZnF_GATA	289	339	2.37e-19	SMART
ZnF_GATA	343	393	1.26e-23	SMART
low complexity region	399	409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205151

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

96% (54/56)

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 that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutant show reduced placental secretion of angiogenic factors, hematopoietic defects, enlarged pericardial sacs, reduced numbers of V2-expressing interneurons of ventral spinal cord, and die by embryonic day 11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,784,682 (GRCm39)	L385*	probably null	Het
Abca9	T	C	11: 110,035,890 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,006 (GRCm39)	S842P	probably benign	Het
Agrn	C	A	4: 156,261,842 (GRCm39)	V483L	probably damaging	Het
Ankrd13a	T	A	5: 114,938,824 (GRCm39)	C365*	probably null	Het
Ap2b1	T	C	11: 83,237,564 (GRCm39)	S543P	probably benign	Het
Atic	C	T	1: 71,598,438 (GRCm39)	T67I	probably damaging	Het
Bhmt1b	A	G	18: 87,775,458 (GRCm39)	K327R	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cux1	C	T	5: 136,304,003 (GRCm39)	R1391Q	probably benign	Het
Cyp2a4	T	C	7: 26,008,013 (GRCm39)	V140A	possibly damaging	Het
Dlgap3	A	T	4: 127,088,406 (GRCm39)	M1L	probably null	Het
Dnah3	T	C	7: 119,689,899 (GRCm39)	D2G	probably benign	Het
Erbb3	A	C	10: 128,407,534 (GRCm39)	V938G	probably damaging	Het
Fam13a	C	T	6: 58,912,707 (GRCm39)		probably benign	Het
Gm2663	T	C	6: 40,972,975 (GRCm39)	I211V	probably benign	Het
Izumo3	T	A	4: 92,033,284 (GRCm39)	N104I	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Mctp2	T	A	7: 71,908,887 (GRCm39)	H142L	probably benign	Het
Mmp10	T	C	9: 7,505,682 (GRCm39)		probably benign	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mylk	T	C	16: 34,681,022 (GRCm39)	V94A	probably benign	Het
Nol6	A	T	4: 41,120,760 (GRCm39)	N396K	probably benign	Het
Nr4a2	A	T	2: 56,998,336 (GRCm39)	N543K	probably damaging	Het
Nynrin	T	C	14: 56,100,998 (GRCm39)	S263P	probably benign	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or1e35	A	T	11: 73,798,240 (GRCm39)	L26H	probably damaging	Het
Or5p68	T	A	7: 107,945,313 (GRCm39)	I292F	probably damaging	Het
Or7d10	G	A	9: 19,832,344 (GRCm39)	V280I	possibly damaging	Het
Pkhd1	T	A	1: 20,637,680 (GRCm39)	R368S	probably benign	Het
Plekhg4	G	A	8: 106,105,742 (GRCm39)	A736T	probably benign	Het
Plxna2	A	G	1: 194,482,957 (GRCm39)	D1550G	probably damaging	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Reln	T	A	5: 22,191,953 (GRCm39)	T1496S	probably null	Het
Rrs1	T	C	1: 9,616,080 (GRCm39)	L111P	probably benign	Het
Selplg	C	T	5: 113,957,434 (GRCm39)	V291M	possibly damaging	Het
Serpinb1c	T	A	13: 33,080,934 (GRCm39)	T50S	possibly damaging	Het
Slc4a5	A	G	6: 83,257,114 (GRCm39)	K640E	probably damaging	Het
Szt2	A	T	4: 118,262,656 (GRCm39)	H40Q	possibly damaging	Het
Taar4	C	T	10: 23,837,230 (GRCm39)	T280I	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tpp1	T	C	7: 105,395,948 (GRCm39)	N527S	probably benign	Het
Trim43c	A	T	9: 88,725,131 (GRCm39)	T218S	possibly damaging	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ubr4	T	C	4: 139,115,782 (GRCm39)		probably null	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Xpo7	A	T	14: 70,904,524 (GRCm39)	H1037Q	possibly damaging	Het
Zmiz1	T	C	14: 25,658,520 (GRCm39)		probably benign	Het

Other mutations in Gata2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02558:Gata2	APN	6	88,176,762 (GRCm39)	missense	probably benign	0.04
IGL02616:Gata2	APN	6	88,182,462 (GRCm39)	missense	possibly damaging	0.88
IGL02637:Gata2	APN	6	88,181,558 (GRCm39)	unclassified	probably benign
IGL02705:Gata2	APN	6	88,182,346 (GRCm39)	missense	possibly damaging	0.49
IGL03143:Gata2	APN	6	88,181,677 (GRCm39)	missense	probably damaging	1.00
R1769:Gata2	UTSW	6	88,182,237 (GRCm39)	missense	probably benign
R3921:Gata2	UTSW	6	88,182,464 (GRCm39)	makesense	probably null
R4151:Gata2	UTSW	6	88,176,620 (GRCm39)	missense	probably damaging	1.00
R5834:Gata2	UTSW	6	88,177,729 (GRCm39)	missense	probably benign	0.04
R5875:Gata2	UTSW	6	88,179,473 (GRCm39)	missense	probably damaging	1.00
R5888:Gata2	UTSW	6	88,177,722 (GRCm39)	missense	probably benign	0.00
R6236:Gata2	UTSW	6	88,179,548 (GRCm39)	critical splice donor site	probably null
R7605:Gata2	UTSW	6	88,177,390 (GRCm39)	missense	possibly damaging	0.89
R8752:Gata2	UTSW	6	88,177,513 (GRCm39)	missense	possibly damaging	0.90
R9469:Gata2	UTSW	6	88,182,301 (GRCm39)	missense	possibly damaging	0.68
R9649:Gata2	UTSW	6	88,179,505 (GRCm39)	missense	probably damaging	1.00
R9789:Gata2	UTSW	6	88,177,272 (GRCm39)	missense	probably benign	0.03
X0026:Gata2	UTSW	6	88,181,594 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACATTGCTGATGATTACAGGCTGAGG -3'
(R):5'- ACACTTGGTACTTGACGCCATCC -3'

Sequencing Primer
(F):5'- ATGATTACAGGCTGAGGTGTTAC -3'
(R):5'- AAGCAGCTCCTGTTGTGC -3'

Posted On

2014-01-29