Mutagenetix > Incidental Mutation

Incidental Mutation 'R9775:Gata3'

733618

Institutional Source

Beutler Lab

Gene Symbol

Gata3

Ensembl Gene

ENSMUSG00000015619

Gene Name

GATA binding protein 3

Synonyms

jal, Gata-3

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9861889-9894845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9863197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 439 (V439A)

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

possibly damaging
Transcript: ENSMUST00000102976
AA Change: V439A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100041
Gene: ENSMUSG00000015619
AA Change: V439A

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	G	5: 113,861,765 (GRCm39)	Q35P	unknown	Het
Angptl2	G	A	2: 33,118,230 (GRCm39)	M1I	probably null	Het
Bptf	T	C	11: 106,934,502 (GRCm39)	E223G	probably benign	Het
C2cd3	T	A	7: 100,076,458 (GRCm39)	I805N		Het
Cep152	G	A	2: 125,423,660 (GRCm39)	Q914*	probably null	Het
Clasp2	A	G	9: 113,725,740 (GRCm39)	T794A	probably benign	Het
Cntnap2	A	G	6: 47,026,261 (GRCm39)	Y970C	probably damaging	Het
Ddx11	G	T	17: 66,445,157 (GRCm39)	V360L	probably damaging	Het
Fer1l6	G	A	15: 58,497,098 (GRCm39)	V1223I	probably benign	Het
Fez2	A	T	17: 78,708,183 (GRCm39)	I255N	probably damaging	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnj9	T	A	1: 172,153,741 (GRCm39)	I128F	probably damaging	Het
Klhdc2	A	G	12: 69,350,393 (GRCm39)	D146G	probably damaging	Het
Klra6	T	A	6: 129,999,639 (GRCm39)	R110W	probably damaging	Het
Ldha	A	T	7: 46,491,047 (GRCm39)		probably benign	Het
Lingo2	C	A	4: 35,708,781 (GRCm39)	A400S	probably benign	Het
Lrrd1	A	T	5: 3,899,897 (GRCm39)	R67S	probably benign	Het
Mapk6	C	T	9: 75,295,668 (GRCm39)	C610Y	possibly damaging	Het
Mia3	G	A	1: 183,109,125 (GRCm39)	R656*	probably null	Het
Myoz2	T	C	3: 122,807,399 (GRCm39)	E137G	probably damaging	Het
Nemp2	T	A	1: 52,680,064 (GRCm39)	I96N	probably damaging	Het
Npy1r	A	G	8: 67,157,742 (GRCm39)	M351V	possibly damaging	Het
Nsg2	G	A	11: 32,005,029 (GRCm39)	S77N	possibly damaging	Het
Or10ag53	A	G	2: 87,082,568 (GRCm39)	M96V	probably damaging	Het
Or5ac17	T	A	16: 59,036,069 (GRCm39)	R302S	possibly damaging	Het
Or6c5c	T	C	10: 129,298,677 (GRCm39)	I44T	probably benign	Het
Osbpl9	G	A	4: 109,013,747 (GRCm39)		probably benign	Het
Pcolce2	G	A	9: 95,520,797 (GRCm39)	C58Y	probably damaging	Het
Piezo1	A	G	8: 123,208,927 (GRCm39)	F2480L	probably damaging	Het
Pip5k1c	T	A	10: 81,147,853 (GRCm39)	D419E	probably damaging	Het
Plppr1	A	T	4: 49,323,435 (GRCm39)	T242S	probably benign	Het
Ppp1r13b	A	C	12: 111,803,457 (GRCm39)	S254A	possibly damaging	Het
Pramel17	A	G	4: 101,694,244 (GRCm39)	M213T	probably benign	Het
Ripk3	A	G	14: 56,023,252 (GRCm39)	L151S	unknown	Het
Scmh1	A	T	4: 120,340,820 (GRCm39)	M169L	probably benign	Het
Serpinb9d	A	T	13: 33,382,007 (GRCm39)	R159W	probably damaging	Het
Slc26a9	A	G	1: 131,690,970 (GRCm39)	R583G	possibly damaging	Het
Smim8	T	C	4: 34,769,068 (GRCm39)	E72G	probably damaging	Het
Sned1	A	G	1: 93,199,604 (GRCm39)	N511S	probably damaging	Het
Srprb	A	C	9: 103,078,490 (GRCm39)	V80G	probably benign	Het
Ssx2ip	G	A	3: 146,136,808 (GRCm39)	S352N	probably benign	Het
Tbccd1	A	G	16: 22,652,666 (GRCm39)	S152P	probably damaging	Het
Tenm4	T	C	7: 96,555,761 (GRCm39)	I2822T	possibly damaging	Het
Tff1	A	G	17: 31,383,972 (GRCm39)	V8A	probably benign	Het
Tmem132b	T	A	5: 125,864,566 (GRCm39)	S891T	probably benign	Het
Tmem200c	T	A	17: 69,149,118 (GRCm39)	V567D	probably damaging	Het
Trim3	G	A	7: 105,260,377 (GRCm39)	T708M	probably damaging	Het
Ttn	T	C	2: 76,544,927 (GRCm39)	N32725S	possibly damaging	Het
Ubash3b	T	G	9: 40,926,214 (GRCm39)	E633A	possibly damaging	Het
Usp4	A	G	9: 108,239,780 (GRCm39)	R170G	probably damaging	Het
Wdr33	T	A	18: 32,037,406 (GRCm39)	L1222Q	unknown	Het
Zfhx2	A	G	14: 55,304,562 (GRCm39)	S1141P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGGAATGCAGACACCACCTC -3'
(R):5'- CCGGAAGATGTCTAGCAAATCG -3'

Sequencing Primer
(F):5'- ACACCACCTCGAGCTCCTTTG -3'
(R):5'- TGTCTAGCAAATCGAAAAAGTGC -3'

Posted On

2022-11-14