Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Gata5'

355755

Institutional Source

Beutler Lab

Gene Symbol

Gata5

Ensembl Gene

ENSMUSG00000015627

Gene Name

GATA binding protein 5

Synonyms

MMRRC Submission

041947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179966926-179976492 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 179969172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 345 (C345*)

Ref Sequence

ENSEMBL: ENSMUSP00000015771 (fasta)

Gene Model

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

AlphaFold

P97489

Predicted Effect

probably null
Transcript: ENSMUST00000015771
AA Change: C345*

SMART Domains

Protein: ENSMUSP00000015771
Gene: ENSMUSG00000015627
AA Change: C345*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,243 (GRCm39)	M1T	probably null	Het
Aatf	T	A	11: 84,339,964 (GRCm39)	D449V	probably damaging	Het
Acbd3	T	A	1: 180,549,509 (GRCm39)		probably benign	Het
Bicc1	T	A	10: 70,789,314 (GRCm39)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,467,613 (GRCm39)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,502,446 (GRCm39)	V401A	probably damaging	Het
Cux2	T	C	5: 122,011,816 (GRCm39)	T540A	probably damaging	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dpp7	A	G	2: 25,244,931 (GRCm39)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,377,225 (GRCm39)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,832,473 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Ednra	T	C	8: 78,391,624 (GRCm39)	H422R	probably benign	Het
Erlec1	T	A	11: 30,902,640 (GRCm39)	I67F	probably benign	Het
Fam161b	G	A	12: 84,395,332 (GRCm39)		probably benign	Het
Glmp	T	C	3: 88,235,581 (GRCm39)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,873,857 (GRCm39)		noncoding transcript	Het
Gnas	A	T	2: 174,139,873 (GRCm39)	D14V	probably damaging	Het
Gnl3	T	C	14: 30,739,286 (GRCm39)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,275,777 (GRCm39)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,524,531 (GRCm39)	L281*	probably null	Het
Kif16b	T	G	2: 142,532,614 (GRCm39)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,467,672 (GRCm39)	S204P	probably benign	Het
Klhl40	T	A	9: 121,607,800 (GRCm39)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,846,212 (GRCm39)	R693Q	probably damaging	Het
Mis12	A	G	11: 70,916,152 (GRCm39)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,858,980 (GRCm39)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,411,098 (GRCm39)	I1348T	unknown	Het
Myh7b	A	G	2: 155,471,242 (GRCm39)	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,878,368 (GRCm39)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,231,821 (GRCm39)	V379L	probably benign	Het
Or10ad1c	G	A	15: 98,084,749 (GRCm39)	R310W	probably damaging	Het
Or4c1	T	A	2: 89,133,247 (GRCm39)	S230C	probably damaging	Het
Or4c1	C	A	2: 89,133,246 (GRCm39)	S230I	possibly damaging	Het
Or5b111	A	T	19: 13,291,081 (GRCm39)	D189E	probably benign	Het
Or5b12	C	T	19: 12,897,298 (GRCm39)	C125Y	probably damaging	Het
Pcdhga7	A	T	18: 37,850,261 (GRCm39)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,608,989 (GRCm39)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,114,786 (GRCm39)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,282,492 (GRCm39)	N484K	probably damaging	Het
Prkd3	C	T	17: 79,268,600 (GRCm39)	V572I	probably benign	Het
Qser1	T	C	2: 104,617,528 (GRCm39)	S1005G	probably benign	Het
Radil	G	T	5: 142,472,556 (GRCm39)	D951E	probably benign	Het
Ripk1	C	T	13: 34,211,925 (GRCm39)	R352*	probably null	Het
Sacs	T	C	14: 61,450,196 (GRCm39)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,199,288 (GRCm39)	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,791,784 (GRCm39)	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,722,741 (GRCm39)	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,029,625 (GRCm39)	P71L	probably benign	Het
Spns1	T	A	7: 125,976,209 (GRCm39)	D14V	probably damaging	Het
Sv2c	T	A	13: 96,122,526 (GRCm39)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,870,479 (GRCm39)	M169K	probably benign	Het
Tgm1	A	T	14: 55,943,138 (GRCm39)	N567K	probably benign	Het
Thoc2l	A	G	5: 104,670,106 (GRCm39)	K1543E	probably benign	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,142,375 (GRCm39)		probably null	Het
Txndc11	C	T	16: 10,902,178 (GRCm39)	V679I	probably damaging	Het
Usf1	G	T	1: 171,244,532 (GRCm39)	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,457,451 (GRCm39)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,785 (GRCm39)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 86,687,168 (GRCm39)	I850F	probably damaging	Het
Vps35l	T	A	7: 118,390,671 (GRCm39)	I455N	probably damaging	Het
Wdr90	C	T	17: 26,074,337 (GRCm39)	R676H	probably benign	Het
Zfp867	G	A	11: 59,354,487 (GRCm39)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,122,366 (GRCm39)		noncoding transcript	Het

Other mutations in Gata5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01875:Gata5	APN	2	179,969,138 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACTAGTAAGACCTGCAGGGC -3'
(R):5'- GCCACATGGTGAGAAATATGGTC -3'

Sequencing Primer
(F):5'- TGCCACACACAGTTCCAGGG -3'
(R):5'- TGAGAAATATGGTCAGGTATGGCAC -3'

Posted On

2015-10-21