Mutagenetix > Incidental Mutation

Incidental Mutation 'R4855:Gata6'

373920

Institutional Source

Beutler Lab

Gene Symbol

Gata6

Ensembl Gene

ENSMUSG00000005836

Gene Name

GATA binding protein 6

Synonyms

MMRRC Submission

042466-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4855 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

11052508-11085635 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11054497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 142 (E142G)

Ref Sequence

ENSEMBL: ENSMUSP00000041774 (fasta)

Gene Model

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

AlphaFold

Q61169

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047762
AA Change: E142G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041774
Gene: ENSMUSG00000005836
AA Change: E142G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231895

Meta Mutation Damage Score

0.1473

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (93/95)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4921501E09Rik	C	T	17: 33,066,739	S363N	probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Adad1	G	T	3: 37,085,111	L443F	probably damaging	Het
Amph	T	A	13: 19,084,208	M70K	probably damaging	Het
Ankra2	T	A	13: 98,273,411	L306H	probably damaging	Het
Arc	A	C	15: 74,671,743	D210E	probably benign	Het
Arhgap10	A	G	8: 77,432,738		probably null	Het
Atp8b5	T	A	4: 43,344,449	N445K	probably benign	Het
C1qc	G	T	4: 136,890,435	Q117K	probably benign	Het
Cadps	T	A	14: 12,822,449	E97V	unknown	Het
Capn13	GCA	G	17: 73,351,506		probably null	Het
Cdk13	A	T	13: 17,721,283	W1014R	probably damaging	Het
Cltb	C	T	13: 54,599,095	E23K	probably damaging	Het
Clvs2	A	T	10: 33,622,646	I96N	probably damaging	Het
Cwf19l1	A	G	19: 44,114,567	V403A	probably damaging	Het
Ddr2	A	T	1: 169,988,497	L547Q	possibly damaging	Het
Ebf1	A	T	11: 44,972,908	K354*	probably null	Het
Fam208b	A	T	13: 3,566,680		probably null	Het
Fat4	A	G	3: 38,888,317	Q453R	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm14221	T	C	2: 160,574,680		noncoding transcript	Het
Gm42791	C	A	5: 148,959,437		probably benign	Het
Gm6370	G	T	5: 146,493,811	V269L	probably benign	Het
Gphn	G	A	12: 78,627,210	V526M	probably damaging	Het
Gpt	A	T	15: 76,699,285	E206V	probably damaging	Het
Grm3	G	A	5: 9,570,047	A399V	probably damaging	Het
Helq	A	T	5: 100,783,159	V575E	possibly damaging	Het
Herc4	A	G	10: 63,315,658		probably null	Het
Ifi207	A	T	1: 173,729,815	N452K	probably damaging	Het
Ikbke	A	G	1: 131,257,111		probably null	Het
Kbtbd2	A	G	6: 56,779,702	F350L	probably benign	Het
Kmt2c	A	G	5: 25,314,557	V2185A	probably benign	Het
Lgi2	T	C	5: 52,538,507	Q362R	probably damaging	Het
Lrit1	G	A	14: 37,061,816	G367E	possibly damaging	Het
Lrp1	G	A	10: 127,610,442	H78Y	probably benign	Het
Matk	A	G	10: 81,262,886		probably benign	Het
Med21	G	A	6: 146,648,192	G24S	probably damaging	Het
Met	G	T	6: 17,558,797	L1141F	probably damaging	Het
Mroh3	A	T	1: 136,200,939		probably null	Het
Mrpl15	T	C	1: 4,774,460	I203V	probably benign	Het
Naip1	T	C	13: 100,423,220		probably null	Het
Ndufa9	A	C	6: 126,827,542	Y298*	probably null	Het
Neb	T	C	2: 52,298,894	E808G	probably damaging	Het
Nol4l	C	T	2: 153,411,806	G616S	probably benign	Het
Olfr1290	T	G	2: 111,489,948	D70A	probably damaging	Het
Olfr1306	A	G	2: 111,912,099	V277A	probably benign	Het
Olfr676	T	A	7: 105,035,651	I151N	probably damaging	Het
Olfr700	T	C	7: 106,806,256	M69V	probably benign	Het
Olfr988	T	C	2: 85,353,449	N159S	possibly damaging	Het
Oprm1	T	A	10: 6,838,468	C408S	probably benign	Het
Paqr3	A	G	5: 97,108,194	I107T	possibly damaging	Het
Pex5l	G	A	3: 33,142,840		probably benign	Het
Pik3ap1	T	C	19: 41,327,845	D326G	probably benign	Het
Plaa	G	T	4: 94,586,408	D252E	probably damaging	Het
Plxna2	G	A	1: 194,797,732	V1404I	probably benign	Het
Ppargc1a	G	A	5: 51,474,222	A355V	possibly damaging	Het
Primpol	A	G	8: 46,586,691	S350P	probably benign	Het
Prlr	T	C	15: 10,328,797	S453P	probably benign	Het
Psmd5	T	C	2: 34,852,552		probably benign	Het
Robo2	A	T	16: 73,971,191	V571E	probably damaging	Het
Sbspon	A	T	1: 15,859,040	S176T	possibly damaging	Het
Scyl2	G	A	10: 89,640,463		probably benign	Het
Sema3e	T	A	5: 14,230,130	V341E	probably damaging	Het
Serpinb3b	A	T	1: 107,154,540	F331L	possibly damaging	Het
Setd2	A	G	9: 110,571,954	H1736R	probably benign	Het
Sidt2	A	T	9: 45,952,029	D180E	probably benign	Het
Skint9	A	T	4: 112,391,011	Y179N	probably benign	Het
Slc27a5	T	C	7: 12,988,633	N638S	probably benign	Het
Slc6a4	T	A	11: 77,013,309	W197R	probably damaging	Het
Spag17	A	T	3: 100,063,333	M1278L	probably benign	Het
Sptbn1	T	A	11: 30,142,353	I471F	probably damaging	Het
Teddm1a	A	G	1: 153,892,636	Q282R	probably benign	Het
Tex35	A	G	1: 157,099,725	L160P	probably damaging	Het
Tfap2c	T	C	2: 172,551,518	Y118H	probably damaging	Het
Tpp1	T	C	7: 105,746,723	Q533R	probably benign	Het
Ttc13	C	T	8: 124,674,435	D730N	probably damaging	Het
Ufc1	A	G	1: 171,294,802		probably benign	Het
Vcpip1	A	G	1: 9,747,364	W265R	probably damaging	Het
Wdr11	C	G	7: 129,600,434		probably null	Het
Xirp2	A	G	2: 67,511,064	I1216M	possibly damaging	Het
Zswim2	A	G	2: 83,916,843		probably null	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
R3113:Gata6	UTSW	18	11063124	missense	probably damaging	1.00
R4765:Gata6	UTSW	18	11054394	missense	probably benign
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'- CAAAGCGTTTCGGGGCTG -3'
(R):5'- CTTGAAGGTAGGGCAGGCC -3'

Sequencing Primer
(F):5'- AGCAACTGCAGGACGCC -3'
(R):5'- GGCCGGACAGCATGGAG -3'

Posted On

2016-03-01