Mutagenetix > Incidental Mutation

Incidental Mutation 'R6236:Gata2'

504943

Institutional Source

Beutler Lab

Gene Symbol

Gata2

Ensembl Gene

ENSMUSG00000015053

Gene Name

GATA binding protein 2

Synonyms

Gata-2

MMRRC Submission

044400-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6236 (G1)

Quality Score

87.0076

Status

Validated

Chromosome

Chromosomal Location

88170873-88184014 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 88179548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128198 (fasta)

Gene Model

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

AlphaFold

O09100

Predicted Effect

probably null
Transcript: ENSMUST00000015197

SMART Domains

Protein: ENSMUSP00000015197
Gene: ENSMUSG00000015053

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 null
Transcript: ENSMUST00000170089

SMART Domains

Protein: ENSMUSP00000128198
Gene: ENSMUSG00000015053

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

0.9493

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,989,664 (GRCm39)	T703A	possibly damaging	Het
Acd	C	T	8: 106,427,127 (GRCm39)	A49T	probably benign	Het
Acer1	T	A	17: 57,262,231 (GRCm39)	I224F	probably benign	Het
Acvr1	T	C	2: 58,367,678 (GRCm39)	D161G	probably benign	Het
Catsper4	T	C	4: 133,948,887 (GRCm39)	I111V	probably benign	Het
Cfap210	A	C	2: 69,588,385 (GRCm39)		probably null	Het
Chst14	T	A	2: 118,757,997 (GRCm39)	C264S	probably damaging	Het
Clnk	T	C	5: 38,870,542 (GRCm39)	T339A	probably benign	Het
Cnot4	T	C	6: 35,045,608 (GRCm39)	K201R	probably benign	Het
Col19a1	A	G	1: 24,319,030 (GRCm39)	V1020A	probably damaging	Het
Cts6	C	A	13: 61,344,192 (GRCm39)	E287*	probably null	Het
Dbf4	T	C	5: 8,448,579 (GRCm39)		probably benign	Het
Diaph3	G	A	14: 87,275,004 (GRCm39)	R140*	probably null	Het
Faah	T	C	4: 115,856,786 (GRCm39)	I459V	probably benign	Het
Fbxw2	A	T	2: 34,712,845 (GRCm39)	L72H	probably damaging	Het
Fstl4	G	A	11: 53,077,162 (GRCm39)	G640S	probably benign	Het
Gabrb1	C	T	5: 72,265,663 (GRCm39)	T186M	probably damaging	Het
Ifi203	A	G	1: 173,761,479 (GRCm39)	V190A	probably benign	Het
Kdm3a	T	C	6: 71,588,641 (GRCm39)	E456G	probably benign	Het
Kl	A	T	5: 150,876,755 (GRCm39)	T192S	probably damaging	Het
Klhl3	G	A	13: 58,232,876 (GRCm39)	A77V	probably damaging	Het
Klri2	A	G	6: 129,715,858 (GRCm39)	F114L	probably benign	Het
Lonp2	A	T	8: 87,363,215 (GRCm39)	R278*	probably null	Het
Lrp5	A	T	19: 3,680,483 (GRCm39)		probably null	Het
Med13	T	A	11: 86,219,357 (GRCm39)	H363L	probably damaging	Het
Metap1d	T	G	2: 71,346,022 (GRCm39)	F194L	probably benign	Het
Misp	A	G	10: 79,662,956 (GRCm39)	K458E	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myh2	A	G	11: 67,081,157 (GRCm39)	T1258A	probably benign	Het
Nipbl	T	A	15: 8,354,064 (GRCm39)	D1691V	possibly damaging	Het
Nr1i2	C	T	16: 38,086,300 (GRCm39)	C55Y	probably damaging	Het
Or11h7	T	C	14: 50,891,257 (GRCm39)	S188P	probably damaging	Het
Or7g21	A	T	9: 19,032,409 (GRCm39)	I50F	possibly damaging	Het
Pcdhgb4	T	C	18: 37,854,345 (GRCm39)	Y247H	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Ric1	T	A	19: 29,572,826 (GRCm39)	D755E	possibly damaging	Het
Sez6l	G	T	5: 112,623,110 (GRCm39)	T147K	possibly damaging	Het
Ski	A	G	4: 155,244,001 (GRCm39)	F451S	probably benign	Het
Slc45a2	C	T	15: 11,022,158 (GRCm39)	T300I	probably benign	Het
Smarca2	T	C	19: 26,673,613 (GRCm39)	V1050A	probably benign	Het
Spag1	T	C	15: 36,211,281 (GRCm39)	S476P	probably damaging	Het
Sptbn2	T	A	19: 4,798,166 (GRCm39)	S1964T	probably benign	Het
Sucla2	T	A	14: 73,831,190 (GRCm39)	D434E	probably benign	Het
Tbl3	G	A	17: 24,919,717 (GRCm39)	T779I	probably benign	Het
Tlr2	T	A	3: 83,745,438 (GRCm39)	E215V	probably benign	Het
Tomm40	G	A	7: 19,437,281 (GRCm39)	P227S	probably benign	Het
Tpp2	T	A	1: 44,016,477 (GRCm39)	S711T	probably benign	Het
Traj32	T	A	14: 54,423,565 (GRCm39)	Y2*	probably null	Het
Trim34b	A	G	7: 103,985,525 (GRCm39)	R387G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp5	T	C	6: 124,795,441 (GRCm39)	T651A	probably benign	Het
Vmn1r188	T	C	13: 22,272,414 (GRCm39)	S123P	probably damaging	Het
Zdhhc14	T	C	17: 5,543,918 (GRCm39)	L66P	probably damaging	Het
Zfp712	C	T	13: 67,188,685 (GRCm39)	C614Y	probably damaging	Het
Zfp827	A	G	8: 79,797,105 (GRCm39)	K397R	probably damaging	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
R1222:Gata2	UTSW	6	88,177,323 (GRCm39)	missense	probably benign	0.31
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
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'- TAAGCAGGCCTTGTGTCTTTC -3'
(R):5'- AGAACGAAGACCGACCTGACTG -3'

Sequencing Primer
(F):5'- GTCTTTCCTTGTTCCCTTACAGAAG -3'
(R):5'- CCCCCAAATGATTTGACTGATAAGAG -3'

Posted On

2018-02-28