Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:Hivep3'

707133

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119733784-120138045 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120095203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 239 (I239F)

Ref Sequence

ENSEMBL: ENSMUSP00000101914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106307] [ENSMUST00000166542] [ENSMUST00000226560]

AlphaFold

A2A884

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106307
AA Change: I239F

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: I239F

Domain	Start	End	E-Value	Type
ZnF_C2H2	185	207	1.67e-2	SMART
ZnF_C2H2	213	235	8.34e-3	SMART
low complexity region	257	285	N/A	INTRINSIC
low complexity region	292	323	N/A	INTRINSIC
low complexity region	425	438	N/A	INTRINSIC
low complexity region	513	527	N/A	INTRINSIC
low complexity region	589	612	N/A	INTRINSIC
low complexity region	622	633	N/A	INTRINSIC
ZnF_C2H2	636	656	2.06e1	SMART
low complexity region	736	749	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
low complexity region	844	865	N/A	INTRINSIC
low complexity region	878	894	N/A	INTRINSIC
low complexity region	896	931	N/A	INTRINSIC
low complexity region	1010	1020	N/A	INTRINSIC
low complexity region	1050	1061	N/A	INTRINSIC
low complexity region	1110	1136	N/A	INTRINSIC
low complexity region	1143	1167	N/A	INTRINSIC
low complexity region	1170	1183	N/A	INTRINSIC
low complexity region	1259	1284	N/A	INTRINSIC
low complexity region	1376	1390	N/A	INTRINSIC
low complexity region	1529	1547	N/A	INTRINSIC
low complexity region	1673	1684	N/A	INTRINSIC
ZnF_C2H2	1720	1742	1.82e-3	SMART
ZnF_C2H2	1748	1772	1.69e-3	SMART
low complexity region	1778	1791	N/A	INTRINSIC
low complexity region	1814	1843	N/A	INTRINSIC
low complexity region	2203	2216	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166542
AA Change: I239F

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: I239F

Domain	Start	End	E-Value	Type
ZnF_C2H2	185	207	1.67e-2	SMART
ZnF_C2H2	213	235	8.34e-3	SMART
low complexity region	257	285	N/A	INTRINSIC
low complexity region	292	323	N/A	INTRINSIC
low complexity region	425	438	N/A	INTRINSIC
low complexity region	513	527	N/A	INTRINSIC
low complexity region	589	612	N/A	INTRINSIC
low complexity region	622	633	N/A	INTRINSIC
ZnF_C2H2	636	656	2.06e1	SMART
low complexity region	736	749	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
low complexity region	844	865	N/A	INTRINSIC
low complexity region	878	894	N/A	INTRINSIC
low complexity region	896	931	N/A	INTRINSIC
low complexity region	1010	1020	N/A	INTRINSIC
low complexity region	1050	1061	N/A	INTRINSIC
low complexity region	1110	1136	N/A	INTRINSIC
low complexity region	1143	1167	N/A	INTRINSIC
low complexity region	1170	1183	N/A	INTRINSIC
low complexity region	1259	1284	N/A	INTRINSIC
low complexity region	1376	1390	N/A	INTRINSIC
low complexity region	1529	1547	N/A	INTRINSIC
low complexity region	1673	1684	N/A	INTRINSIC
ZnF_C2H2	1720	1742	1.82e-3	SMART
ZnF_C2H2	1748	1772	1.69e-3	SMART
low complexity region	1778	1791	N/A	INTRINSIC
low complexity region	1814	1843	N/A	INTRINSIC
low complexity region	2203	2216	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226560

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 147,945,033	R487C	probably benign	Het
2610044O15Rik8	A	T	8: 129,217,668	D91E	unknown	Het
2900026A02Rik	A	T	5: 113,093,100		probably null	Het
9130011E15Rik	A	T	19: 45,956,681	M277K	probably damaging	Het
Adamts15	T	A	9: 30,904,789	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,322,027	V675A	probably benign	Het
Ank3	A	T	10: 69,973,748	T1120S	probably benign	Het
Babam2	A	T	5: 31,701,850	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,341,219	Q261*	probably null	Het
Cdc27	A	T	11: 104,505,670	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494	V324I	probably benign	Het
Cfap44	T	C	16: 44,422,444	I737T	probably damaging	Het
Chrm3	A	T	13: 9,878,616	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,904,441	S743T	probably benign	Het
Ddias	A	G	7: 92,858,106	V867A	possibly damaging	Het
Ddx20	G	C	3: 105,678,587	T814R	possibly damaging	Het
Dgka	A	T	10: 128,731,066		probably null	Het
Dnah9	A	T	11: 65,870,949	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,524,685	Q271K	probably benign	Het
Dvl2	T	A	11: 70,006,354	I294N	probably damaging	Het
E2f3	G	A	13: 29,911,256	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,505,277	D457N	probably damaging	Het
Erbb3	T	C	10: 128,585,060	T125A	probably benign	Het
Etv5	A	C	16: 22,435,877	C78G	probably benign	Het
Frrs1	G	A	3: 116,890,933	R263H	probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Ifi208	C	T	1: 173,682,828	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,955,901		probably null	Het
Igkv1-88	T	A	6: 68,862,329	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,409,167	N185S	probably benign	Het
Kmt2d	A	C	15: 98,845,816	L3821R	unknown	Het
Krtap22-2	T	G	16: 89,010,590	Y40S	unknown	Het
Lrrc1	A	G	9: 77,442,198	V362A	probably damaging	Het
Malsu1	T	A	6: 49,084,515	I171N	probably damaging	Het
Mark1	C	T	1: 184,916,148	G314S	possibly damaging	Het
Mib2	T	C	4: 155,658,937	N135S	probably benign	Het
Mos	A	T	4: 3,870,886	L310Q	probably damaging	Het
Muc4	C	T	16: 32,750,938	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,880,238	T1654A		Het
Napsa	G	T	7: 44,582,345	G153W	probably damaging	Het
Nos3	A	C	5: 24,379,763	I722L	probably benign	Het
Olfr1457	A	T	19: 13,095,149	S166R	probably benign	Het
Olfr406	A	T	11: 74,269,917	D176V	probably damaging	Het
Olfr419	A	T	1: 174,250,113	D271E	probably damaging	Het
Olfr555	A	T	7: 102,658,992	H57L	probably damaging	Het
P4ha2	T	A	11: 54,111,564	D109E	possibly damaging	Het
Pappa	G	T	4: 65,124,681	C47F	unknown	Het
Pbx3	T	A	2: 34,371,820	H34L	probably benign	Het
Pcca	A	G	14: 122,650,326	T234A	probably benign	Het
Pcdha11	C	T	18: 37,011,461	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,662,198	V85G	probably damaging	Het
Pclo	A	G	5: 14,676,548	I1807V	unknown	Het
Pgm3	A	T	9: 86,555,360	F528Y	probably benign	Het
Pigz	T	C	16: 31,944,876	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,875,435	Q687H		Het
Pja2	A	T	17: 64,283,437	N700K	unknown	Het
Pkd2l2	T	C	18: 34,428,105	F389L	probably damaging	Het
Plcz1	T	A	6: 140,039,720	T32S	possibly damaging	Het
Pola2	A	G	19: 5,941,001	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,049,660	C541G	probably benign	Het
Prr15l	A	T	11: 96,934,773	K76N	probably damaging	Het
Psg28	C	A	7: 18,422,980	K443N	possibly damaging	Het
Ptch2	G	T	4: 117,097,000	A76S	probably damaging	Het
Ptch2	A	G	4: 117,109,579	D553G	possibly damaging	Het
Ptprz1	T	C	6: 23,000,856	S982P	probably benign	Het
Rnd3	T	C	2: 51,148,832	I15V	probably benign	Het
Rtn3	T	C	19: 7,482,963	K41E	unknown	Het
Sap25	T	C	5: 137,641,723	S30P	probably benign	Het
Scfd2	A	T	5: 74,531,345	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108	Y106C	probably damaging	Het
Sell	T	C	1: 164,065,608	I131T	probably damaging	Het
Sesn3	T	A	9: 14,314,554	V195D	probably damaging	Het
Setdb2	A	G	14: 59,423,367	V109A	unknown	Het
Skint2	T	C	4: 112,625,857	I153T	probably benign	Het
Slc22a1	A	G	17: 12,667,255	S164P	probably damaging	Het
Sowahc	G	A	10: 59,222,483	G147D	probably benign	Het
Strip2	G	C	6: 29,931,825	G456R	probably benign	Het
Synpo	G	T	18: 60,602,400	R825S	probably damaging	Het
Tango6	A	G	8: 106,689,069	D174G	probably benign	Het
Tas1r2	T	C	4: 139,662,005	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,434,943	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,208,961	F512S	probably damaging	Het
Tenm3	A	T	8: 48,417,080	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,894,953	M771K	probably benign	Het
Trim29	T	C	9: 43,327,053	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,358,853	K144E	probably benign	Het
Ttc21b	A	G	2: 66,226,943	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,137,271	H269R	probably benign	Het
Utp20	A	G	10: 88,813,936	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,525,201	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,210,010	V680A	probably damaging	Het
Wee1	G	A	7: 110,122,482	G45S	probably damaging	Het
Zfp518a	G	A	19: 40,912,781	V385I	probably benign	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
Branchial	UTSW	4	120096575	missense	possibly damaging	0.92
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
R7707:Hivep3	UTSW	4	119733959	missense
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
R8890:Hivep3	UTSW	4	120096460	missense	possibly damaging	0.95
R8902:Hivep3	UTSW	4	120096740	missense	possibly damaging	0.83
R9022:Hivep3	UTSW	4	120098107	missense	probably benign	0.09
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

PCR Primer
(F):5'- CCTGAAACCTGCAGAAGAGG -3'
(R):5'- CCGGAGCTGTACAAACTACTTG -3'

Sequencing Primer
(F):5'- CCTGCAGAAGAGGCACACAAG -3'
(R):5'- GCTGTACAAACTACTTGAGAGC -3'

Posted On

2022-04-18