Mutagenetix > Incidental Mutations

Incidental Mutation 'R7707:Hivep3'

594327

Institutional Source

Beutler Lab

Gene Symbol

Hivep3

Ensembl Gene

ENSMUSG00000028634

Gene Name

human immunodeficiency virus type I enhancer binding protein 3

Synonyms

E030045D18Rik, Schnurri-3, Shn3, 2900056N03Rik, Krc

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7707 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

119733784-120138045 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119733959 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 55 (V55M)

Ref Sequence

ENSEMBL: ENSMUSP00000081330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084306]

Predicted Effect

SMART Domains

Protein: ENSMUSP00000081330
Gene: ENSMUSG00000028634
AA Change: V55M

Domain	Start	End	E-Value	Type
low complexity region	49	75	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610044O15Rik8	A	T	8: 129,219,179	C388*	probably null	Het
2900026A02Rik	T	A	5: 113,137,986	M1L	probably benign	Het
Ap1s3	T	C	1: 79,614,247	K129E	probably benign	Het
Ap3b2	C	T	7: 81,476,782	V357I	possibly damaging	Het
Aplp1	A	T	7: 30,443,098	C140S	probably damaging	Het
Arhgef1	G	A	7: 24,916,881	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968	H401R	probably benign	Het
Bpi	A	T	2: 158,261,173	E79D	probably benign	Het
Cant1	C	T	11: 118,410,898	V198M	possibly damaging	Het
Casp9	C	T	4: 141,805,467	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,857,469	R82L	probably benign	Het
Chrm4	A	G	2: 91,927,354	T36A	probably benign	Het
Cntln	A	T	4: 84,884,616	D51V	probably damaging	Het
Commd8	A	T	5: 72,162,738	F120Y	probably damaging	Het
Cpne6	A	C	14: 55,516,314	T410P	probably damaging	Het
Ctnnb1	A	T	9: 120,952,865	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,118,958	V701A	probably damaging	Het
Efcab9	A	G	11: 32,522,851	Y199H	possibly damaging	Het
Endou	T	A	15: 97,713,102		probably null	Het
Fam160a1	A	G	3: 85,676,253	V412A	probably benign	Het
Foxc2	C	T	8: 121,117,902	P430S	probably benign	Het
Gas2l3	T	A	10: 89,414,358	K299N	probably damaging	Het
Gm10375	G	A	14: 43,604,875	Q133*	probably null	Het
Gorab	T	C	1: 163,392,440	D211G	probably damaging	Het
Grin3b	T	A	10: 79,975,901	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,511,286		probably benign	Het
Gucy2d	T	C	7: 98,451,669	F400L	possibly damaging	Het
Igsf3	A	G	3: 101,459,922	N1157S	probably benign	Het
Irak3	A	T	10: 120,146,584	D324E	probably damaging	Het
Jup	G	T	11: 100,383,052	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Lgr4	A	G	2: 109,997,591		probably null	Het
Lrrc34	T	C	3: 30,624,892	D352G	probably benign	Het
Metrn	C	A	17: 25,795,410	A175S	probably benign	Het
Nr2c1	T	A	10: 94,188,165	S411T	probably benign	Het
Olfr1206	A	G	2: 88,864,809	D68G	possibly damaging	Het
Olfr190	T	A	16: 59,074,271	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691	K172*	probably null	Het
Oxnad1	A	G	14: 32,102,008		probably null	Het
Pcdh7	A	G	5: 57,720,330	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,011,792	N312I	probably benign	Het
Pds5a	G	T	5: 65,610,133	P121Q	unknown	Het
Phc1	A	G	6: 122,323,780	I380T	unknown	Het
Phldb3	C	A	7: 24,626,597	H535N	possibly damaging	Het
Proser3	T	C	7: 30,539,791	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,296	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,738,147	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,777,292	D268Y	probably null	Het
Rapgef5	A	C	12: 117,715,344	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,429,129	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,413,122	D982V	probably damaging	Het
Sbf2	T	C	7: 110,330,713		probably null	Het
Serping1	A	T	2: 84,773,699		probably null	Het
Shank1	C	T	7: 44,344,301	S798F	unknown	Het
Slc15a5	A	T	6: 138,079,747	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,403,123	C284*	probably null	Het
Src	G	A	2: 157,464,658	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,483,654	T84A	probably damaging	Het
Sspo	A	T	6: 48,461,527	T1510S	probably benign	Het
Taar1	A	T	10: 23,921,237	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,404,429	Y281H	possibly damaging	Het
Thbs3	A	T	3: 89,224,900	Y798F	possibly damaging	Het
Tnpo1	T	C	13: 98,890,787	T7A	probably benign	Het
Traf7	A	T	17: 24,510,709		probably null	Het
Trbv19	G	A	6: 41,178,613	V9I	possibly damaging	Het
Trim17	C	T	11: 58,965,284	Q56*	probably null	Het
Ttn	G	T	2: 76,902,062	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,081,508		probably null	Het
Uso1	A	G	5: 92,201,936	*960W	probably null	Het
Usp2	G	T	9: 44,073,460		probably null	Het
Wdr20rt	A	G	12: 65,226,207	D148G	probably damaging	Het
Wdr66	A	T	5: 123,253,887	E28V	probably benign	Het
Wif1	T	C	10: 121,083,959	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645	D750G	probably benign	Het
Zmynd12	A	T	4: 119,444,866	D234V	probably damaging	Het

Other mutations in Hivep3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Hivep3	APN	4	120098374	missense	probably damaging	1.00
IGL01017:Hivep3	APN	4	120099246	missense	probably damaging	0.98
IGL01837:Hivep3	APN	4	120094562	missense	possibly damaging	0.72
IGL01878:Hivep3	APN	4	120095227	missense	possibly damaging	0.84
IGL02134:Hivep3	APN	4	120133574	splice site	probably benign
IGL02183:Hivep3	APN	4	120132024	missense	probably benign	0.04
IGL02350:Hivep3	APN	4	120123025	missense	probably damaging	1.00
IGL02451:Hivep3	APN	4	120133965	missense	probably damaging	1.00
IGL02567:Hivep3	APN	4	120133956	missense	probably damaging	0.99
IGL02617:Hivep3	APN	4	120095444	missense	probably benign	0.04
IGL02725:Hivep3	APN	4	120095822	missense	possibly damaging	0.48
IGL02828:Hivep3	APN	4	120097732	nonsense	probably null
IGL02954:Hivep3	APN	4	120133641	missense	probably damaging	1.00
IGL02966:Hivep3	APN	4	120132186	missense	probably benign	0.04
Deceit	UTSW	4	120097911	frame shift	probably null
Mandible	UTSW	4	120097121	missense	probably damaging	0.99
Sclerotic	UTSW	4	120095099	missense	possibly damaging	0.82
Stealth	UTSW	4	120122876	nonsense	probably null
Yellowjacket	UTSW	4	120132357	missense	probably benign	0.01
PIT4260001:Hivep3	UTSW	4	120099182	missense	probably damaging	1.00
R0321:Hivep3	UTSW	4	120095591	missense	possibly damaging	0.84
R0336:Hivep3	UTSW	4	120103847	missense	probably damaging	1.00
R0558:Hivep3	UTSW	4	120096566	missense	probably damaging	0.98
R0562:Hivep3	UTSW	4	120096554	missense	probably benign	0.00
R0637:Hivep3	UTSW	4	120132541	nonsense	probably null
R0645:Hivep3	UTSW	4	120097334	missense	possibly damaging	0.95
R1186:Hivep3	UTSW	4	119814723	start gained	probably benign
R1254:Hivep3	UTSW	4	120099293	missense	probably damaging	1.00
R1428:Hivep3	UTSW	4	120096575	missense	possibly damaging	0.92
R1623:Hivep3	UTSW	4	120095704	missense	possibly damaging	0.84
R1739:Hivep3	UTSW	4	120095174	missense	probably benign	0.03
R1766:Hivep3	UTSW	4	120096671	missense	probably benign
R1769:Hivep3	UTSW	4	120097571	missense	possibly damaging	0.68
R1773:Hivep3	UTSW	4	120098837	missense	probably damaging	1.00
R1968:Hivep3	UTSW	4	120096238	missense	possibly damaging	0.83
R2220:Hivep3	UTSW	4	119734038	missense	possibly damaging	0.92
R2428:Hivep3	UTSW	4	120098508	nonsense	probably null
R3789:Hivep3	UTSW	4	120098416	missense	probably damaging	1.00
R3917:Hivep3	UTSW	4	120099427	missense	probably benign	0.27
R4366:Hivep3	UTSW	4	120096089	missense	possibly damaging	0.84
R4436:Hivep3	UTSW	4	120095923	missense	probably benign	0.11
R4504:Hivep3	UTSW	4	119733793	unclassified	probably benign
R4705:Hivep3	UTSW	4	119872050	intron	probably benign
R4713:Hivep3	UTSW	4	120131803	missense	probably damaging	1.00
R4756:Hivep3	UTSW	4	120097823	missense	probably damaging	0.98
R4887:Hivep3	UTSW	4	120122934	missense	probably damaging	1.00
R4888:Hivep3	UTSW	4	120122934	missense	probably damaging	1.00
R5008:Hivep3	UTSW	4	120098917	missense	probably benign	0.22
R5204:Hivep3	UTSW	4	120103856	critical splice donor site	probably null
R5594:Hivep3	UTSW	4	120123048	critical splice donor site	probably null
R5697:Hivep3	UTSW	4	120096955	missense	possibly damaging	0.68
R5715:Hivep3	UTSW	4	120096373	missense	probably benign
R5740:Hivep3	UTSW	4	120096023	missense	possibly damaging	0.83
R5760:Hivep3	UTSW	4	120095011	missense	possibly damaging	0.83
R5923:Hivep3	UTSW	4	120096293	missense	possibly damaging	0.92
R5927:Hivep3	UTSW	4	120097108	missense	possibly damaging	0.68
R6042:Hivep3	UTSW	4	120097864	missense	possibly damaging	0.85
R6074:Hivep3	UTSW	4	120097694	missense	possibly damaging	0.68
R6150:Hivep3	UTSW	4	119734077	nonsense	probably null
R6211:Hivep3	UTSW	4	120098405	missense	probably damaging	1.00
R6251:Hivep3	UTSW	4	120094940	missense	probably damaging	0.98
R6451:Hivep3	UTSW	4	120098908	missense	probably benign	0.22
R6531:Hivep3	UTSW	4	120122876	nonsense	probably null
R6651:Hivep3	UTSW	4	120122949	missense	probably damaging	1.00
R6701:Hivep3	UTSW	4	120094540	missense	probably damaging	0.97
R6721:Hivep3	UTSW	4	120095099	missense	possibly damaging	0.82
R6796:Hivep3	UTSW	4	120096361	missense	possibly damaging	0.68
R6864:Hivep3	UTSW	4	120094888	missense	possibly damaging	0.48
R6902:Hivep3	UTSW	4	120095995	missense	possibly damaging	0.48
R7111:Hivep3	UTSW	4	120095234	missense	possibly damaging	0.68
R7113:Hivep3	UTSW	4	120098369	missense	probably damaging	1.00
R7140:Hivep3	UTSW	4	120097121	missense	probably damaging	0.99
R7189:Hivep3	UTSW	4	120132219	missense	probably damaging	0.99
R7218:Hivep3	UTSW	4	120095452	missense	possibly damaging	0.92
R7366:Hivep3	UTSW	4	120097911	frame shift	probably null
R7368:Hivep3	UTSW	4	120097911	frame shift	probably null
R7491:Hivep3	UTSW	4	120098830	missense	probably benign	0.09
R7496:Hivep3	UTSW	4	120132402	missense	probably benign	0.00
R7514:Hivep3	UTSW	4	120096855	missense	possibly damaging	0.48
R7604:Hivep3	UTSW	4	120097911	frame shift	probably null
R7605:Hivep3	UTSW	4	120097911	frame shift	probably null
R7607:Hivep3	UTSW	4	120097911	frame shift	probably null
R7610:Hivep3	UTSW	4	120097911	frame shift	probably null
R7611:Hivep3	UTSW	4	120097911	frame shift	probably null
R7613:Hivep3	UTSW	4	120097911	frame shift	probably null
R7626:Hivep3	UTSW	4	120097911	frame shift	probably null
R7736:Hivep3	UTSW	4	120095543	missense	possibly damaging	0.92
R7915:Hivep3	UTSW	4	120097765	missense	possibly damaging	0.83
R7943:Hivep3	UTSW	4	120132357	missense	probably benign	0.01
R7972:Hivep3	UTSW	4	120097514	missense	possibly damaging	0.48
R8093:Hivep3	UTSW	4	120095435	missense	possibly damaging	0.68
R8111:Hivep3	UTSW	4	120098386	missense	probably damaging	0.99
R8215:Hivep3	UTSW	4	120122901	missense	probably damaging	1.00
R8364:Hivep3	UTSW	4	120099442	missense	probably benign	0.10
R8467:Hivep3	UTSW	4	120095041	missense	probably damaging	0.98
R8768:Hivep3	UTSW	4	120132324	missense	probably damaging	0.99
RF019:Hivep3	UTSW	4	120098270	missense	probably benign	0.12
X0062:Hivep3	UTSW	4	120098698	missense	probably damaging	1.00
X0067:Hivep3	UTSW	4	120131787	missense	probably damaging	0.96
Z1176:Hivep3	UTSW	4	120133782	missense	probably damaging	1.00
Z1177:Hivep3	UTSW	4	120095946	missense	possibly damaging	0.68
Z1177:Hivep3	UTSW	4	120131778	nonsense	probably null

Predicted Primers

Posted On

2019-11-12