Mutagenetix > Incidental Mutation

Incidental Mutation 'R3753:Gata3'

271292

Institutional Source

Beutler Lab

Gene Symbol

Gata3

Ensembl Gene

ENSMUSG00000015619

Gene Name

GATA binding protein 3

Synonyms

jal, Gata-3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9861889-9894845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9873651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 281 (H281L)

Ref Sequence

ENSEMBL: ENSMUSP00000100041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102976]

AlphaFold

P23772

PDB Structure

Adjacent GATA DNA binding [X-RAY DIFFRACTION]
Opposite GATA DNA binding [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000102976
AA Change: H281L

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100041
Gene: ENSMUSG00000015619
AA Change: H281L

Domain	Start	End	E-Value	Type
low complexity region	128	149	N/A	INTRINSIC
low complexity region	153	165	N/A	INTRINSIC
low complexity region	229	247	N/A	INTRINSIC
ZnF_GATA	257	307	3.65e-20	SMART
ZnF_GATA	311	361	2.9e-23	SMART
low complexity region	367	377	N/A	INTRINSIC
low complexity region	399	425	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151456

Meta Mutation Damage Score

0.9430

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous inactivation is embryonic lethal and show a variety of embryonic defects. T cell development is impaired when the locus is conditionally. Mice with a spontaneous mutation exhibit partial hair loss and various defects in hair structure and in hair growth cycle regulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Acp7	T	A	7: 28,316,085 (GRCm39)	Y167F	probably damaging	Het
Acsl1	A	T	8: 46,966,602 (GRCm39)		probably benign	Het
Bcr	T	C	10: 74,971,772 (GRCm39)	V599A	probably benign	Het
Brd1	C	T	15: 88,573,821 (GRCm39)	V1093I	possibly damaging	Het
Cep152	A	G	2: 125,466,972 (GRCm39)		probably benign	Het
Cstf2t	T	G	19: 31,060,695 (GRCm39)	L77R	probably damaging	Het
Drd3	C	T	16: 43,637,466 (GRCm39)	R254W	probably damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fam187a	C	T	11: 102,776,675 (GRCm39)	P160S	probably benign	Het
Fat1	G	A	8: 45,478,516 (GRCm39)	E2521K	probably damaging	Het
Fbln1	T	A	15: 85,111,279 (GRCm39)	C144*	probably null	Het
Flii	T	C	11: 60,606,306 (GRCm39)	D1128G	probably benign	Het
Gask1a	A	T	9: 121,794,899 (GRCm39)	D351V	probably damaging	Het
Iqsec3	C	T	6: 121,353,214 (GRCm39)	A1135T	probably benign	Het
Irak4	T	C	15: 94,459,476 (GRCm39)	I364T	probably damaging	Het
Mib2	A	G	4: 155,739,741 (GRCm39)	F810S	probably damaging	Het
Nbn	G	A	4: 15,964,269 (GRCm39)	V115I	probably damaging	Het
Nfyc	G	T	4: 120,622,527 (GRCm39)		probably benign	Het
Nup210	A	T	6: 90,998,377 (GRCm39)		probably null	Het
Or2g1	T	C	17: 38,107,123 (GRCm39)	S263P	possibly damaging	Het
Or2t48	C	T	11: 58,420,516 (GRCm39)	A99T	probably benign	Het
Or8j3b	C	T	2: 86,205,259 (GRCm39)	V166I	possibly damaging	Het
Paqr8	A	G	1: 21,005,856 (GRCm39)	T337A	probably benign	Het
Plce1	T	C	19: 38,640,278 (GRCm39)	V508A	probably benign	Het
Prmt2	G	T	10: 76,061,137 (GRCm39)	D116E	probably benign	Het
Prss51	T	A	14: 64,333,624 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,102,818 (GRCm39)	V2659D	probably benign	Het
Ptpn3	C	T	4: 57,270,144 (GRCm39)	R6H	probably damaging	Het
Ramac	C	T	7: 81,417,395 (GRCm39)	R32C	probably damaging	Het
Rdh12	C	T	12: 79,260,446 (GRCm39)	R181*	probably null	Het
Rsf1	T	A	7: 97,311,359 (GRCm39)	D696E	probably benign	Het
Sh3rf2	C	T	18: 42,244,373 (GRCm39)	R280C	probably damaging	Het
Slco6d1	T	A	1: 98,427,502 (GRCm39)	I611K	probably damaging	Het
Snph	G	A	2: 151,435,374 (GRCm39)	P449L	probably benign	Het
Spg7	G	C	8: 123,814,112 (GRCm39)	R457P	probably damaging	Het
Swap70	T	A	7: 109,867,088 (GRCm39)	W297R	probably damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tcstv2c	A	T	13: 120,616,167 (GRCm39)	D2V	possibly damaging	Het
Tox2	T	A	2: 163,156,243 (GRCm39)	I138N	probably damaging	Het
Trim54	A	C	5: 31,291,488 (GRCm39)	E203A	probably damaging	Het
Vmn2r19	A	T	6: 123,292,548 (GRCm39)	T197S	possibly damaging	Het
Vmn2r28	T	A	7: 5,491,026 (GRCm39)	H407L	probably damaging	Het
Wdr19	G	A	5: 65,382,069 (GRCm39)	V430M	probably damaging	Het

Other mutations in Gata3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Gata3	APN	2	9,882,276 (GRCm39)	missense	probably damaging	1.00
IGL03168:Gata3	APN	2	9,873,625 (GRCm39)	missense	probably damaging	1.00
R0054:Gata3	UTSW	2	9,863,258 (GRCm39)	missense	probably damaging	1.00
R0123:Gata3	UTSW	2	9,879,620 (GRCm39)	missense	probably benign	0.11
R0225:Gata3	UTSW	2	9,879,620 (GRCm39)	missense	probably benign	0.11
R0724:Gata3	UTSW	2	9,879,386 (GRCm39)	missense	probably benign
R1491:Gata3	UTSW	2	9,882,201 (GRCm39)	missense	probably damaging	0.96
R1576:Gata3	UTSW	2	9,868,007 (GRCm39)	missense	probably damaging	0.98
R1608:Gata3	UTSW	2	9,879,579 (GRCm39)	nonsense	probably null
R1667:Gata3	UTSW	2	9,882,360 (GRCm39)	missense	possibly damaging	0.95
R3119:Gata3	UTSW	2	9,882,396 (GRCm39)	critical splice acceptor site	probably null
R3876:Gata3	UTSW	2	9,867,954 (GRCm39)	missense	probably damaging	1.00
R5040:Gata3	UTSW	2	9,863,326 (GRCm39)	missense	probably damaging	1.00
R5292:Gata3	UTSW	2	9,873,685 (GRCm39)	missense	probably damaging	1.00
R6414:Gata3	UTSW	2	9,863,245 (GRCm39)	missense	possibly damaging	0.95
R6696:Gata3	UTSW	2	9,879,303 (GRCm39)	nonsense	probably null
R6848:Gata3	UTSW	2	9,863,339 (GRCm39)	missense	possibly damaging	0.88
R7580:Gata3	UTSW	2	9,867,943 (GRCm39)	missense	probably damaging	1.00
R7900:Gata3	UTSW	2	9,863,461 (GRCm39)	missense	probably damaging	1.00
R8551:Gata3	UTSW	2	9,867,994 (GRCm39)	missense	probably damaging	1.00
R9602:Gata3	UTSW	2	9,863,297 (GRCm39)	missense	possibly damaging	0.86
R9775:Gata3	UTSW	2	9,863,197 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CCAGTTTCCTGCAGAAAGCC -3'
(R):5'- TGATCTCAATGCATGTCTAGGG -3'

Sequencing Primer
(F):5'- TGCAGAAAGCCATTCTTCTCAGAG -3'
(R):5'- CTCAGGGATGGAATTCAGATTTTCAG -3'

Posted On

2015-03-18