Mutagenetix > Incidental Mutation

Incidental Mutation 'R5292:Gata3'

405178

Institutional Source

Beutler Lab

Gene Symbol

Gata3

Ensembl Gene

ENSMUSG00000015619

Gene Name

GATA binding protein 3

Synonyms

jal, Gata-3

MMRRC Submission

042875-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5292 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9861889-9894845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9873685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 270 (S270P)

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: S270P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100041
Gene: ENSMUSG00000015619
AA Change: S270P

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,354,467 (GRCm39)	V641A	possibly damaging	Het
Apob	A	T	12: 8,055,912 (GRCm39)	M1465L	probably benign	Het
Astn1	T	C	1: 158,407,933 (GRCm39)		probably null	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Col22a1	T	C	15: 71,842,185 (GRCm39)	Y433C	probably damaging	Het
Crtc3	T	C	7: 80,268,358 (GRCm39)	T154A	possibly damaging	Het
Dcc	T	C	18: 71,439,159 (GRCm39)	Y1241C	probably damaging	Het
Depdc1b	T	C	13: 108,510,376 (GRCm39)	V296A	probably damaging	Het
Gcm1	T	C	9: 77,968,708 (GRCm39)	F136S	probably damaging	Het
Gfpt1	A	G	6: 87,053,237 (GRCm39)		probably null	Het
Gm5174	G	T	10: 86,492,562 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,294,037 (GRCm39)	T648A	probably benign	Het
Hr	C	A	14: 70,809,432 (GRCm39)	Q1177K	probably damaging	Het
Hrnr	T	C	3: 93,239,199 (GRCm39)	S3146P	unknown	Het
Igkv10-94	C	T	6: 68,681,582 (GRCm39)	G86E	probably damaging	Het
Krt80	G	A	15: 101,250,066 (GRCm39)	R222W	probably damaging	Het
Lrch3	T	C	16: 32,796,177 (GRCm39)	Y354H	probably damaging	Het
Or10g1	A	T	14: 52,647,902 (GRCm39)	N142K	possibly damaging	Het
Or3a1b	T	A	11: 74,012,877 (GRCm39)	F254Y	probably damaging	Het
Or5w1b	T	A	2: 87,476,339 (GRCm39)	N43Y	probably damaging	Het
Osbpl7	A	G	11: 96,958,779 (GRCm39)	D932G	probably benign	Het
Pakap	T	G	4: 57,855,356 (GRCm39)	S471R	probably damaging	Het
Palmd	T	C	3: 116,717,393 (GRCm39)	E368G	probably benign	Het
Peg3	T	A	7: 6,711,259 (GRCm39)	D1321V	probably damaging	Het
Pkhd1l1	A	T	15: 44,392,962 (GRCm39)	I1766F	probably damaging	Het
Polq	A	G	16: 36,881,745 (GRCm39)	E1303G	probably damaging	Het
Ppie	A	G	4: 123,033,701 (GRCm39)	Y9H	probably damaging	Het
Ptprz1	A	G	6: 23,002,581 (GRCm39)	N1557S	probably benign	Het
Rnf40	T	C	7: 127,195,120 (GRCm39)	V411A	possibly damaging	Het
Rtn4	T	C	11: 29,657,924 (GRCm39)	F577L	probably benign	Het
Sacs	A	G	14: 61,449,432 (GRCm39)	Y3826C	probably damaging	Het
Slc32a1	A	G	2: 158,453,307 (GRCm39)	D49G	probably damaging	Het
Slc37a2	A	T	9: 37,150,453 (GRCm39)	C167*	probably null	Het
Slc5a1	G	T	5: 33,315,585 (GRCm39)	V535F	probably benign	Het
Smoc2	A	G	17: 14,556,835 (GRCm39)	K95E	probably damaging	Het
Smok3c	A	C	5: 138,063,446 (GRCm39)	Q311P	probably damaging	Het
Spink5	C	A	18: 44,139,521 (GRCm39)	P628Q	probably benign	Het
Spint4	T	C	2: 164,542,779 (GRCm39)	L124S	probably benign	Het
Stard9	A	G	2: 120,529,626 (GRCm39)	K1961R	probably benign	Het
Synpo2	C	A	3: 122,907,709 (GRCm39)	V536L	possibly damaging	Het
Trim24	A	G	6: 37,880,539 (GRCm39)	K146E	probably benign	Het
Usp24	A	G	4: 106,275,460 (GRCm39)	D2245G	probably benign	Het
Vars2	A	G	17: 35,971,678 (GRCm39)	S81P	probably damaging	Het
Zfp39	T	C	11: 58,791,415 (GRCm39)	T91A	probably damaging	Het
Zfp764l1	T	C	7: 126,991,659 (GRCm39)	D97G	possibly damaging	Het
Zfp936	T	A	7: 42,838,759 (GRCm39)	Y75*	probably null	Het
Zkscan5	G	T	5: 145,155,451 (GRCm39)	C374F	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
R3753:Gata3	UTSW	2	9,873,651 (GRCm39)	missense	probably benign	0.39
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
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'- TTCTTCTCAGAGACGACACAG -3'
(R):5'- TGATCTCAATGCATGTCTAGGGG -3'

Sequencing Primer
(F):5'- TTCTTCTCAGAGACGACACAGAAAAC -3'
(R):5'- GTCTCAGGGATGGAATTCAGATTTTC -3'

Posted On

2016-07-22