Mutagenetix > Incidental Mutation

Incidental Mutation 'R3876:Gata3'

276828

Institutional Source

Beutler Lab

Gene Symbol

Gata3

Ensembl Gene

ENSMUSG00000015619

Gene Name

GATA binding protein 3

Synonyms

jal, Gata-3

MMRRC Submission

041606-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9861889-9894845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9867954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 333 (N333K)

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 damaging
Transcript: ENSMUST00000102976
AA Change: N333K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100041
Gene: ENSMUSG00000015619
AA Change: N333K

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

0.3745

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,828,857 (GRCm39)	R215*	probably null	Het
Brinp2	C	A	1: 158,074,416 (GRCm39)	L568F	probably damaging	Het
Brip1	T	C	11: 86,043,616 (GRCm39)	Y316C	probably damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cfap69	G	T	5: 5,634,645 (GRCm39)		probably benign	Het
Chrnb4	T	C	9: 54,951,182 (GRCm39)	E27G	probably damaging	Het
Clec14a	A	G	12: 58,315,430 (GRCm39)	V64A	possibly damaging	Het
Crygs	A	G	16: 22,625,262 (GRCm39)	Y60H	probably damaging	Het
Dpp10	T	A	1: 123,281,216 (GRCm39)	Q611L	probably damaging	Het
Entpd1	T	C	19: 40,725,264 (GRCm39)	L450P	probably damaging	Het
Eogt	G	A	6: 97,097,151 (GRCm39)	S317L	probably damaging	Het
Exosc10	T	A	4: 148,657,376 (GRCm39)	S584T	probably benign	Het
Fam184a	C	T	10: 53,575,157 (GRCm39)	V151I	probably damaging	Het
Fbxo43	A	G	15: 36,152,258 (GRCm39)	V517A	probably damaging	Het
Flii	T	C	11: 60,610,698 (GRCm39)	T533A	possibly damaging	Het
Frmpd1	T	G	4: 45,284,093 (GRCm39)	H971Q	probably benign	Het
Hectd1	A	G	12: 51,815,513 (GRCm39)	S1525P	probably damaging	Het
Ibtk	A	G	9: 85,600,479 (GRCm39)	I816T	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt34	T	C	11: 99,931,791 (GRCm39)	T143A	probably benign	Het
Lipn	G	T	19: 34,046,828 (GRCm39)	M43I	probably benign	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Mios	G	A	6: 8,233,189 (GRCm39)	R779Q	probably damaging	Het
Mme	A	T	3: 63,269,480 (GRCm39)		probably benign	Het
Ncstn	A	G	1: 171,897,640 (GRCm39)	S418P	probably benign	Het
Oprk1	T	A	1: 5,672,884 (GRCm39)	C340*	probably null	Het
Or10d1c	T	A	9: 38,894,166 (GRCm39)	Y58F	probably damaging	Het
Or4c29	T	C	2: 88,739,952 (GRCm39)	T262A	possibly damaging	Het
Or4k39	T	C	2: 111,238,967 (GRCm39)	V69A	possibly damaging	Het
Or6c210	C	T	10: 129,496,143 (GRCm39)	P156L	probably benign	Het
Or6z7	G	A	7: 6,484,131 (GRCm39)	A8V	probably benign	Het
Pald1	T	A	10: 61,183,266 (GRCm39)	N323Y	probably damaging	Het
Pcdhac1	C	A	18: 37,224,945 (GRCm39)	A586E	probably damaging	Het
Pcnx2	C	T	8: 126,614,897 (GRCm39)	A185T	probably benign	Het
Pik3r1	G	A	13: 101,821,465 (GRCm39)	H430Y	probably benign	Het
Polr3b	G	A	10: 84,556,382 (GRCm39)		probably null	Het
Prl8a6	A	T	13: 27,617,015 (GRCm39)	L225*	probably null	Het
Psme4	T	C	11: 30,806,068 (GRCm39)	S89P	probably damaging	Het
Pygl	G	A	12: 70,248,113 (GRCm39)	T250I	probably damaging	Het
Rgs13	T	A	1: 144,016,528 (GRCm39)	K72*	probably null	Het
Ryr2	T	A	13: 11,603,045 (GRCm39)	I4514F	probably damaging	Het
Septin3	A	T	15: 82,170,002 (GRCm39)	D32V	probably damaging	Het
Sfrp2	C	T	3: 83,674,335 (GRCm39)	P163S	possibly damaging	Het
Spata31	A	G	13: 65,068,745 (GRCm39)	T298A	probably benign	Het
Stxbp2	T	C	8: 3,683,369 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,002,345 (GRCm39)	M282K	possibly damaging	Het
Timd2	T	C	11: 46,561,847 (GRCm39)		probably null	Het
Tlr11	G	A	14: 50,600,611 (GRCm39)	V866I	probably benign	Het
Trappc10	T	C	10: 78,056,020 (GRCm39)		probably null	Het
Zfp512b	AG	AGG	2: 181,230,556 (GRCm39)		probably null	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
R3753:Gata3	UTSW	2	9,873,651 (GRCm39)	missense	probably benign	0.39
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'- ACAAATTGTTTAGCTCCAAGGAAGG -3'
(R):5'- ATGACTTTCATGTGGCCCAC -3'

Sequencing Primer
(F):5'- TTTAGCTCCAAGGAAGGTGACTG -3'
(R):5'- CATATTTACTGTGTGTTCCAAT -3'

Posted On

2015-04-06