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

11052510-11085636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11054497 bp (GRCm39)

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: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adad1	G	T	3: 37,139,260 (GRCm39)	L443F	probably damaging	Het
Amph	T	A	13: 19,268,378 (GRCm39)	M70K	probably damaging	Het
Ankra2	T	A	13: 98,409,919 (GRCm39)	L306H	probably damaging	Het
Arc	A	C	15: 74,543,592 (GRCm39)	D210E	probably benign	Het
Arhgap10	A	G	8: 78,159,367 (GRCm39)		probably null	Het
Atp8b5	T	A	4: 43,344,449 (GRCm39)	N445K	probably benign	Het
C1qc	G	T	4: 136,617,746 (GRCm39)	Q117K	probably benign	Het
Cadps	T	A	14: 12,822,449 (GRCm38)	E97V	unknown	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cdk13	A	T	13: 17,895,868 (GRCm39)	W1014R	probably damaging	Het
Cltb	C	T	13: 54,746,908 (GRCm39)	E23K	probably damaging	Het
Clvs2	A	T	10: 33,498,642 (GRCm39)	I96N	probably damaging	Het
Cwf19l1	A	G	19: 44,103,006 (GRCm39)	V403A	probably damaging	Het
Ddr2	A	T	1: 169,816,066 (GRCm39)	L547Q	possibly damaging	Het
Ebf1	A	T	11: 44,863,735 (GRCm39)	K354*	probably null	Het
Fat4	A	G	3: 38,942,466 (GRCm39)	Q453R	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm14221	T	C	2: 160,416,600 (GRCm39)		noncoding transcript	Het
Gm42791	C	A	5: 148,896,247 (GRCm39)		probably benign	Het
Gm6370	G	T	5: 146,430,621 (GRCm39)	V269L	probably benign	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Gpt	A	T	15: 76,583,485 (GRCm39)	E206V	probably damaging	Het
Grm3	G	A	5: 9,620,047 (GRCm39)	A399V	probably damaging	Het
Helq	A	T	5: 100,931,025 (GRCm39)	V575E	possibly damaging	Het
Herc4	A	G	10: 63,151,437 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,557,381 (GRCm39)	N452K	probably damaging	Het
Ikbke	A	G	1: 131,184,848 (GRCm39)		probably null	Het
Kbtbd2	A	G	6: 56,756,687 (GRCm39)	F350L	probably benign	Het
Kmt2c	A	G	5: 25,519,555 (GRCm39)	V2185A	probably benign	Het
Lgi2	T	C	5: 52,695,849 (GRCm39)	Q362R	probably damaging	Het
Lrit1	G	A	14: 36,783,773 (GRCm39)	G367E	possibly damaging	Het
Lrp1	G	A	10: 127,446,311 (GRCm39)	H78Y	probably benign	Het
Matk	A	G	10: 81,098,720 (GRCm39)		probably benign	Het
Med21	G	A	6: 146,549,690 (GRCm39)	G24S	probably damaging	Het
Met	G	T	6: 17,558,796 (GRCm39)	L1141F	probably damaging	Het
Mroh3	A	T	1: 136,128,677 (GRCm39)		probably null	Het
Mrpl15	T	C	1: 4,844,683 (GRCm39)	I203V	probably benign	Het
Naip1	T	C	13: 100,559,728 (GRCm39)		probably null	Het
Ndufa9	A	C	6: 126,804,505 (GRCm39)	Y298*	probably null	Het
Neb	T	C	2: 52,188,906 (GRCm39)	E808G	probably damaging	Het
Nol4l	C	T	2: 153,253,726 (GRCm39)	G616S	probably benign	Het
Oprm1	T	A	10: 6,788,468 (GRCm39)	C408S	probably benign	Het
Or2ag18	T	C	7: 106,405,463 (GRCm39)	M69V	probably benign	Het
Or4f14	A	G	2: 111,742,444 (GRCm39)	V277A	probably benign	Het
Or4k42	T	G	2: 111,320,293 (GRCm39)	D70A	probably damaging	Het
Or52e7	T	A	7: 104,684,858 (GRCm39)	I151N	probably damaging	Het
Or5ak20	T	C	2: 85,183,793 (GRCm39)	N159S	possibly damaging	Het
Paqr3	A	G	5: 97,256,053 (GRCm39)	I107T	possibly damaging	Het
Pex5l	G	A	3: 33,196,989 (GRCm39)		probably benign	Het
Phf8-ps	C	T	17: 33,285,713 (GRCm39)	S363N	probably benign	Het
Pik3ap1	T	C	19: 41,316,284 (GRCm39)	D326G	probably benign	Het
Plaa	G	T	4: 94,474,645 (GRCm39)	D252E	probably damaging	Het
Plxna2	G	A	1: 194,480,040 (GRCm39)	V1404I	probably benign	Het
Ppargc1a	G	A	5: 51,631,564 (GRCm39)	A355V	possibly damaging	Het
Primpol	A	G	8: 47,039,726 (GRCm39)	S350P	probably benign	Het
Prlr	T	C	15: 10,328,883 (GRCm39)	S453P	probably benign	Het
Psmd5	T	C	2: 34,742,564 (GRCm39)		probably benign	Het
Robo2	A	T	16: 73,768,079 (GRCm39)	V571E	probably damaging	Het
Sbspon	A	T	1: 15,929,264 (GRCm39)	S176T	possibly damaging	Het
Scyl2	G	A	10: 89,476,325 (GRCm39)		probably benign	Het
Sema3e	T	A	5: 14,280,144 (GRCm39)	V341E	probably damaging	Het
Serpinb3b	A	T	1: 107,082,270 (GRCm39)	F331L	possibly damaging	Het
Setd2	A	G	9: 110,401,022 (GRCm39)	H1736R	probably benign	Het
Sidt2	A	T	9: 45,863,327 (GRCm39)	D180E	probably benign	Het
Skint9	A	T	4: 112,248,208 (GRCm39)	Y179N	probably benign	Het
Slc27a5	T	C	7: 12,722,560 (GRCm39)	N638S	probably benign	Het
Slc6a4	T	A	11: 76,904,135 (GRCm39)	W197R	probably damaging	Het
Spag17	A	T	3: 99,970,649 (GRCm39)	M1278L	probably benign	Het
Sptbn1	T	A	11: 30,092,353 (GRCm39)	I471F	probably damaging	Het
Tasor2	A	T	13: 3,616,680 (GRCm39)		probably null	Het
Teddm1a	A	G	1: 153,768,382 (GRCm39)	Q282R	probably benign	Het
Tex35	A	G	1: 156,927,295 (GRCm39)	L160P	probably damaging	Het
Tfap2c	T	C	2: 172,393,438 (GRCm39)	Y118H	probably damaging	Het
Tpp1	T	C	7: 105,395,930 (GRCm39)	Q533R	probably benign	Het
Ttc13	C	T	8: 125,401,174 (GRCm39)	D730N	probably damaging	Het
Ufc1	A	G	1: 171,122,375 (GRCm39)		probably benign	Het
Vcpip1	A	G	1: 9,817,589 (GRCm39)	W265R	probably damaging	Het
Wdr11	C	G	7: 129,202,158 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,341,408 (GRCm39)	I1216M	possibly damaging	Het
Zswim2	A	G	2: 83,747,187 (GRCm39)		probably null	Het

Other mutations in Gata6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Gata6	APN	18	11,084,330 (GRCm39)	missense	possibly damaging	0.47
IGL01328:Gata6	APN	18	11,064,530 (GRCm39)	missense	probably damaging	0.99
IGL02419:Gata6	APN	18	11,054,220 (GRCm39)	missense	probably damaging	1.00
Lutsen	UTSW	18	11,063,059 (GRCm39)	missense	possibly damaging	0.65
R0538:Gata6	UTSW	18	11,064,771 (GRCm39)	missense	probably benign	0.11
R1419:Gata6	UTSW	18	11,064,706 (GRCm39)	missense	probably benign	0.42
R2000:Gata6	UTSW	18	11,054,113 (GRCm39)	missense	probably benign	0.04
R3113:Gata6	UTSW	18	11,063,124 (GRCm39)	missense	probably damaging	1.00
R4765:Gata6	UTSW	18	11,054,394 (GRCm39)	missense	probably benign
R5368:Gata6	UTSW	18	11,063,059 (GRCm39)	missense	possibly damaging	0.65
R6805:Gata6	UTSW	18	11,054,460 (GRCm39)	missense	possibly damaging	0.83
R7192:Gata6	UTSW	18	11,054,475 (GRCm39)	missense	possibly damaging	0.82
R7206:Gata6	UTSW	18	11,054,850 (GRCm39)	missense	probably damaging	1.00
R7501:Gata6	UTSW	18	11,054,082 (GRCm39)	missense	probably damaging	0.97
R7541:Gata6	UTSW	18	11,059,108 (GRCm39)	missense	probably damaging	1.00
R7736:Gata6	UTSW	18	11,084,379 (GRCm39)	missense	probably damaging	1.00
R8029:Gata6	UTSW	18	11,054,944 (GRCm39)	missense	possibly damaging	0.68
R8251:Gata6	UTSW	18	11,054,670 (GRCm39)	missense	probably benign	0.03
R9339:Gata6	UTSW	18	11,054,520 (GRCm39)	missense	probably damaging	0.98
R9712:Gata6	UTSW	18	11,059,064 (GRCm39)	missense	possibly damaging	0.68
R9753:Gata6	UTSW	18	11,064,706 (GRCm39)	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