Mutagenetix > Incidental Mutations

Incidental Mutation 'R7613:Hivep3'

588714

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 #

R7613 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

119733784-120138045 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CGG to CG at 120097911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

at position 1141 (1141)

Ref Sequence

ENSEMBL: ENSMUSP00000101914 (fasta)

Gene Model

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

AlphaFold

A2A884

Predicted Effect

probably null
Transcript: ENSMUST00000106307
AA Change: 1141

SMART Domains

Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: 1141

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 null
Transcript: ENSMUST00000166542

SMART Domains

Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adgrb2	CTATA	CTATATA	4: 130,021,213		probably benign	Het
Adh1	T	A	3: 138,286,831	L236*	probably null	Het
Akt2	A	G	7: 27,637,170	I448V	probably benign	Het
Anapc5	G	A	5: 122,818,865	T117M	probably damaging	Het
Cacna1d	A	T	14: 30,066,163	D1605E	probably benign	Het
Celsr2	C	T	3: 108,395,640	G2506R	probably damaging	Het
Cenpe	T	A	3: 135,242,302	F31L	possibly damaging	Het
Cenpj	G	A	14: 56,527,044	R1304*	probably null	Het
Cfap58	A	G	19: 47,982,122	D593G	possibly damaging	Het
Crip2	T	C	12: 113,144,157		probably null	Het
Crocc2	G	T	1: 93,194,589	A735S	possibly damaging	Het
Dnah2	A	G	11: 69,548,990		probably null	Het
Dpp8	C	T	9: 65,053,120	T311M	possibly damaging	Het
Eps15	T	C	4: 109,329,725	S330P	probably damaging	Het
Exoc2	C	T	13: 30,882,272	V474I	probably benign	Het
Foxn2	T	C	17: 88,486,883	I416T	possibly damaging	Het
Gbp8	T	C	5: 105,031,014	E145G	probably damaging	Het
Gm3676	T	A	14: 41,643,276	I141L	probably benign	Het
Gm4131	A	G	14: 62,481,089	Y23H	possibly damaging	Het
Gm884	G	T	11: 103,616,290	H1617Q	unknown	Het
Gucy1b1	T	A	3: 82,039,747	D385V	possibly damaging	Het
Hdac2	T	C	10: 36,989,236	S149P	probably damaging	Het
Igsf9b	A	T	9: 27,334,122	R1128S	probably benign	Het
Invs	A	G	4: 48,392,668	H294R	probably damaging	Het
Kansl3	G	A	1: 36,343,795	S812F	probably damaging	Het
Katnbl1	T	C	2: 112,409,193	S246P	probably benign	Het
Kcnt1	A	T	2: 25,901,346	H567L	probably benign	Het
Krt33a	A	G	11: 100,011,939	I353T	probably damaging	Het
Lrguk	A	T	6: 34,101,748	R639S	possibly damaging	Het
Mcoln2	A	T	3: 146,175,544		probably null	Het
Myo15	A	G	11: 60,505,152	T1438A		Het
Myocd	A	G	11: 65,218,603	L114P	probably damaging	Het
Nutm1	T	C	2: 112,249,239	N777S	probably benign	Het
Olfr1444	A	T	19: 12,861,777	M1L	probably benign	Het
Pde4b	A	G	4: 102,255,306	E29G	probably damaging	Het
Plekhn1	G	A	4: 156,224,820	P210S	probably benign	Het
Por	G	T	5: 135,729,504	A112S	probably damaging	Het
Prkcq	T	C	2: 11,299,410	F651S	probably damaging	Het
Rnf148	A	C	6: 23,654,980	S6A	probably benign	Het
Selenoi	A	G	5: 30,266,928	I376V	possibly damaging	Het
Skint6	A	T	4: 113,177,046		probably null	Het
Tdrd6	T	C	17: 43,627,926	T744A	probably benign	Het
Tet2	T	A	3: 133,466,748	T1918S	possibly damaging	Het
Ttc28	C	A	5: 111,224,129	L846M	probably damaging	Het
Ubxn2a	A	T	12: 4,883,832	V193D	possibly damaging	Het
Umodl1	T	A	17: 30,988,057	C807*	probably null	Het
Upf2	T	A	2: 5,973,536	S404T	unknown	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp53	A	T	3: 122,949,818	S490T	probably benign	Het
Wscd1	T	C	11: 71,759,973	L42P	possibly damaging	Het
Xirp2	T	C	2: 67,514,498	I2361T	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
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
R9336:Hivep3	UTSW	4	120095203	missense	possibly damaging	0.84
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'- AGATCTCTGTGGGCACTACG -3'
(R):5'- TGCAGTGCAAACTGGGATTG -3'

Sequencing Primer
(F):5'- TCTGTGGGCACTACGCAAGG -3'
(R):5'- TTGCAGAGGGAGGAAATATCC -3'

Posted On

2019-10-24