Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01875:Gata5'

178889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gata5

Ensembl Gene

ENSMUSG00000015627

Gene Name

GATA binding protein 5

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01875

Quality Score

Status

Chromosome

Chromosomal Location

179966926-179976492 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 179969138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000015771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015771]

AlphaFold

P97489

Predicted Effect

probably benign
Transcript: ENSMUST00000015771

SMART Domains

Protein: ENSMUSP00000015771
Gene: ENSMUSG00000015627

Domain	Start	End	E-Value	Type
Pfam:GATA-N	1	181	4.4e-58	PFAM
ZnF_GATA	190	240	7.3e-20	SMART
ZnF_GATA	244	294	1.55e-23	SMART
low complexity region	309	323	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for disruptions in this gene are viable and fertile and appear to be normal. Females, on the other hand, have abnormalities of the external genitalia, most apparently reduced distance between anus and vagina, and experience reduced fertility due to vaginal tract obstructions. [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
Adam11	A	G	11: 102,663,682 (GRCm39)	T287A	probably damaging	Het
Afm	G	T	5: 90,696,742 (GRCm39)		probably benign	Het
Ankrd24	A	G	10: 81,465,571 (GRCm39)		probably benign	Het
Ankrd53	G	T	6: 83,740,031 (GRCm39)	E62*	probably null	Het
Atg4b	A	G	1: 93,706,032 (GRCm39)	S162G	probably damaging	Het
B530045E10Rik	A	T	10: 99,258,177 (GRCm39)		noncoding transcript	Het
Ccng1	A	G	11: 40,643,183 (GRCm39)	V88A	probably benign	Het
Ces1e	T	A	8: 93,950,524 (GRCm39)	M86L	probably benign	Het
Chrne	A	T	11: 70,509,498 (GRCm39)		probably null	Het
Ctsh	T	C	9: 89,946,260 (GRCm39)	S109P	probably damaging	Het
Eif4g1	A	C	16: 20,499,790 (GRCm39)	I420L	probably damaging	Het
Ep300	T	A	15: 81,524,224 (GRCm39)	S1351T	unknown	Het
Fgfr1	A	G	8: 26,063,569 (GRCm39)	M732V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm3633	A	T	14: 42,461,234 (GRCm39)	M18K	probably damaging	Het
Gucy1b2	A	G	14: 62,657,595 (GRCm39)	L211P	probably damaging	Het
Hemgn	T	C	4: 46,396,994 (GRCm39)	N81D	possibly damaging	Het
Irs2	A	T	8: 11,056,221 (GRCm39)	M737K	probably damaging	Het
Itgb7	C	A	15: 102,126,430 (GRCm39)	C502F	probably damaging	Het
Jakmip1	G	T	5: 37,278,324 (GRCm39)	A534S	probably damaging	Het
Kidins220	A	G	12: 25,107,728 (GRCm39)	H1636R	probably benign	Het
Kirrel1	T	A	3: 87,003,037 (GRCm39)	I119F	probably damaging	Het
Lrba	T	C	3: 86,217,354 (GRCm39)	V527A	probably damaging	Het
Mitf	A	G	6: 97,994,856 (GRCm39)	E409G	probably benign	Het
Mtrr	T	G	13: 68,720,728 (GRCm39)	K289T	probably damaging	Het
Muc2	A	T	7: 141,306,477 (GRCm39)	I739F	probably damaging	Het
Ncor2	T	C	5: 125,142,934 (GRCm39)	T612A	unknown	Het
Or12e7	T	A	2: 87,287,654 (GRCm39)	N48K	probably damaging	Het
Or1x2	A	T	11: 50,918,202 (GRCm39)	R124S	probably damaging	Het
Or6c213	T	A	10: 129,574,791 (GRCm39)		probably benign	Het
Or8b42	T	A	9: 38,341,594 (GRCm39)	N5K	probably damaging	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Prkd3	T	C	17: 79,264,635 (GRCm39)	E660G	possibly damaging	Het
Rbm4b	G	A	19: 4,812,219 (GRCm39)	M209I	probably benign	Het
Reln	T	A	5: 22,109,715 (GRCm39)	T3132S	probably benign	Het
Selenbp2	T	A	3: 94,605,451 (GRCm39)	D92E	possibly damaging	Het
Slfn8	G	T	11: 82,894,905 (GRCm39)	Q634K	probably benign	Het
Sumo3	A	T	10: 77,449,832 (GRCm39)	I57F	probably benign	Het
Tacr1	A	G	6: 82,533,997 (GRCm39)	Y341C	probably benign	Het
Tlr4	T	A	4: 66,757,726 (GRCm39)	L173Q	probably damaging	Het
Tshz3	C	T	7: 36,469,385 (GRCm39)	T458M	probably damaging	Het
Vmn1r91	T	A	7: 19,835,859 (GRCm39)	C259*	probably null	Het
Vmn2r16	T	C	5: 109,478,277 (GRCm39)	F11L	probably benign	Het
Vmn2r28	T	A	7: 5,484,302 (GRCm39)	M633L	probably benign	Het
Vmn2r35	T	C	7: 7,819,772 (GRCm39)		probably benign	Het
Vwc2l	G	T	1: 70,768,172 (GRCm39)	A79S	probably benign	Het
Zfhx2	G	A	14: 55,301,372 (GRCm39)	S2204F	unknown	Het

Other mutations in Gata5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Gata5	APN	2	179,968,734 (GRCm39)	missense	possibly damaging	0.95
IGL02662:Gata5	APN	2	179,969,544 (GRCm39)	splice site	probably benign
E0354:Gata5	UTSW	2	179,975,758 (GRCm39)	frame shift	probably null
R0562:Gata5	UTSW	2	179,969,552 (GRCm39)	critical splice donor site	probably null
R1959:Gata5	UTSW	2	179,968,729 (GRCm39)	missense	possibly damaging	0.61
R2296:Gata5	UTSW	2	179,970,113 (GRCm39)	missense	possibly damaging	0.87
R2862:Gata5	UTSW	2	179,976,129 (GRCm39)	missense	possibly damaging	0.87
R4697:Gata5	UTSW	2	179,969,172 (GRCm39)	nonsense	probably null
R5301:Gata5	UTSW	2	179,975,786 (GRCm39)	missense	probably damaging	0.96
R5583:Gata5	UTSW	2	179,976,047 (GRCm39)	missense	probably benign	0.02
R6749:Gata5	UTSW	2	179,976,143 (GRCm39)	missense	probably damaging	0.99
R7038:Gata5	UTSW	2	179,975,685 (GRCm39)	missense	possibly damaging	0.92
R7635:Gata5	UTSW	2	179,975,790 (GRCm39)	missense	possibly damaging	0.54
R9066:Gata5	UTSW	2	179,968,761 (GRCm39)	missense
R9099:Gata5	UTSW	2	179,976,131 (GRCm39)	missense	possibly damaging	0.89

Posted On

2014-05-07