Mutagenetix > Incidental Mutation

Incidental Mutation 'R3113:Gata6'

263910

Institutional Source

Beutler Lab

Gene Symbol

Gata6

Ensembl Gene

ENSMUSG00000005836

Gene Name

GATA binding protein 6

Synonyms

MMRRC Submission

040586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11052508-11085635 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11063124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 464 (L464P)

Ref Sequence

ENSEMBL: ENSMUSP00000041774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047762]

AlphaFold

Q61169

Predicted Effect

probably damaging
Transcript: ENSMUST00000047762
AA Change: L464P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041774
Gene: ENSMUSG00000005836
AA Change: L464P

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
low complexity region	32	47	N/A	INTRINSIC
low complexity region	84	105	N/A	INTRINSIC
Pfam:GATA-N	147	372	2.3e-62	PFAM
ZnF_GATA	378	429	4.23e-16	SMART
ZnF_GATA	432	482	3.62e-24	SMART

Meta Mutation Damage Score

0.9743

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mutant E5.5 embryos lack parts of the visceral endoderm, show impaired embryonic ectoderm development, and die soon post-implantation, apparently of extraembryonic tissue defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	G	T	7: 139,975,965		probably benign	Het
9330159F19Rik	T	A	10: 29,224,376	Y248*	probably null	Het
Acta2	T	C	19: 34,243,352	I319V	probably benign	Het
Alox15	A	T	11: 70,344,877	N585K	probably benign	Het
Ank	T	A	15: 27,571,614	I324N	probably damaging	Het
Ank1	A	G	8: 23,084,797	N99D	probably damaging	Het
As3mt	T	C	19: 46,715,278		probably benign	Het
Atg4b	C	T	1: 93,775,704		probably benign	Het
Atp2a1	A	T	7: 126,448,369	V705D	probably damaging	Het
Bves	T	C	10: 45,343,052	V82A	probably benign	Het
Cad	C	A	5: 31,074,137	H7Q	possibly damaging	Het
Carmil1	A	G	13: 24,069,757	V387A	probably benign	Het
Csnk2a1	T	A	2: 152,263,214	F181Y	probably damaging	Het
Cwc22	A	T	2: 77,924,479		probably benign	Het
Ddx18	A	G	1: 121,566,148	S36P	possibly damaging	Het
Dnaic2	T	A	11: 114,751,930		probably null	Het
Ehbp1l1	A	T	19: 5,718,980	M765K	probably benign	Het
Fitm2	T	C	2: 163,469,591	Y234C	probably damaging	Het
Flrt3	T	C	2: 140,661,534	E58G	probably benign	Het
Foxs1	A	G	2: 152,932,236	V299A	probably benign	Het
Galnt12	A	G	4: 47,108,415	N184S	probably benign	Het
Gm17332	T	C	11: 31,182,384	T27A	possibly damaging	Het
Ifna11	A	C	4: 88,819,983	M9L	probably benign	Het
Ldb3	T	A	14: 34,529,461	*623L	probably null	Het
Lrrc27	A	G	7: 139,218,307	D106G	probably damaging	Het
Ly6f	A	G	15: 75,271,728	N95D	probably benign	Het
Lyst	A	G	13: 13,669,927	I1901V	probably benign	Het
Mboat2	A	G	12: 24,882,719	Y70C	probably damaging	Het
Mroh1	T	A	15: 76,408,536		probably benign	Het
Muc5b	A	G	7: 141,846,134	H448R	unknown	Het
Mut	G	A	17: 40,958,356	G610D	probably damaging	Het
Myh2	A	G	11: 67,185,186	N733S	probably damaging	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Nlrp1a	A	T	11: 71,123,665	I253N	probably damaging	Het
Ocrl	A	G	X: 47,933,427	E258G	probably benign	Het
Olfr263	T	A	13: 21,133,129	M118K	probably damaging	Het
Olfr791	A	T	10: 129,527,143	R305S	probably benign	Het
Pak1	C	A	7: 97,866,114	S115*	probably null	Het
Pilrb1	C	T	5: 137,854,933	V203I	possibly damaging	Het
Ppfia2	T	A	10: 106,906,395	Y1016*	probably null	Het
Prmt3	C	A	7: 49,782,012	P121Q	probably damaging	Het
Rhox6	T	A	X: 37,827,630	I116N	possibly damaging	Het
Saxo2	A	C	7: 82,643,741	F49L	probably benign	Het
Scn2a	A	C	2: 65,748,785	D1488A	possibly damaging	Het
Scn5a	T	A	9: 119,485,672	D1989V	probably damaging	Het
Sec31b	C	A	19: 44,518,185	E905*	probably null	Het
Secisbp2l	A	T	2: 125,750,286	F672I	probably damaging	Het
Slc22a23	C	T	13: 34,183,075	G650E	probably damaging	Het
Smu1	A	G	4: 40,748,658	F211L	probably benign	Het
Tab1	C	T	15: 80,148,260	L23F	probably benign	Het
Thsd7b	G	A	1: 130,049,862	C1078Y	probably benign	Het
Ttn	A	T	2: 76,814,198	Y13071N	probably damaging	Het
Usp17ld	A	G	7: 103,250,663	V354A	probably benign	Het
Usp31	A	G	7: 121,679,513	S210P	probably damaging	Het
Wdr12	T	C	1: 60,087,062	D198G	probably benign	Het
Wrap53	A	G	11: 69,563,318	V298A	probably benign	Het
Xirp2	A	G	2: 67,510,147	I911V	probably benign	Het
Zcchc2	T	C	1: 105,991,022	M78T	unknown	Het

Other mutations in Gata6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Gata6	APN	18	11084330	missense	possibly damaging	0.47
IGL01328:Gata6	APN	18	11064530	missense	probably damaging	0.99
IGL02419:Gata6	APN	18	11054220	missense	probably damaging	1.00
Lutsen	UTSW	18	11063059	missense	possibly damaging	0.65
R0538:Gata6	UTSW	18	11064771	missense	probably benign	0.11
R1419:Gata6	UTSW	18	11064706	missense	probably benign	0.42
R2000:Gata6	UTSW	18	11054113	missense	probably benign	0.04
R4765:Gata6	UTSW	18	11054394	missense	probably benign
R4855:Gata6	UTSW	18	11054497	missense	possibly damaging	0.92
R5368:Gata6	UTSW	18	11063059	missense	possibly damaging	0.65
R6805:Gata6	UTSW	18	11054460	missense	possibly damaging	0.83
R7192:Gata6	UTSW	18	11054475	missense	possibly damaging	0.82
R7206:Gata6	UTSW	18	11054850	missense	probably damaging	1.00
R7501:Gata6	UTSW	18	11054082	missense	probably damaging	0.97
R7541:Gata6	UTSW	18	11059108	missense	probably damaging	1.00
R7736:Gata6	UTSW	18	11084379	missense	probably damaging	1.00
R8029:Gata6	UTSW	18	11054944	missense	possibly damaging	0.68
R8251:Gata6	UTSW	18	11054670	missense	probably benign	0.03
R9339:Gata6	UTSW	18	11054520	missense	probably damaging	0.98
R9712:Gata6	UTSW	18	11059064	missense	possibly damaging	0.68
R9753:Gata6	UTSW	18	11064706	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCTAGTCCAGGAAGTCTGCC -3'
(R):5'- GCTGAACTGACTGGTCACATTAC -3'

Sequencing Primer
(F):5'- CCAGGAAGTCTGCCTAATTATATTTG -3'
(R):5'- CTGGTCACATTACAATTAAGAGCAGC -3'

Posted On

2015-02-05