Mutagenetix > Incidental Mutation

Incidental Mutation 'R4504:Hivep3'

397252

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

041755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4504 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

119733784-120138045 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 119733793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081330 (fasta)

Gene Model

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

AlphaFold

A2A884

Predicted Effect

probably benign
Transcript: ENSMUST00000084306

SMART Domains

Protein: ENSMUSP00000081330
Gene: ENSMUSG00000028634

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144907

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (45/45)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	A	G	14: 44,170,442	S45P	probably damaging	Het
Adgrg4	C	T	X: 56,916,442	R1124C	possibly damaging	Het
Anxa13	T	C	15: 58,356,203		noncoding transcript	Het
Arhgap32	C	A	9: 32,181,839		probably null	Het
Carm1	T	C	9: 21,569,526	F99L	probably damaging	Het
Dennd1b	A	G	1: 139,085,927	E253G	possibly damaging	Het
Dsg4	A	G	18: 20,461,436	I541V	probably benign	Het
Dstyk	A	G	1: 132,434,389	T186A	possibly damaging	Het
Ear1	A	T	14: 43,819,264	V49D	probably benign	Het
Epha10	A	G	4: 124,915,687		probably benign	Het
Fbxo18	A	G	2: 11,749,017	V838A	possibly damaging	Het
Fndc8	T	A	11: 82,892,400	M69K	probably benign	Het
Gm13023	G	C	4: 143,793,983	E102Q	probably benign	Het
Golga1	T	C	2: 39,023,454	I482V	probably benign	Het
Igkv13-85	A	G	6: 68,930,372	F82L	probably damaging	Het
Itih1	G	A	14: 30,935,885	R410C	probably damaging	Het
Kcnc2	T	C	10: 112,455,794	W296R	probably damaging	Het
Kcnq3	A	T	15: 65,995,342	Y817*	probably null	Het
Kif3b	T	C	2: 153,323,644		probably null	Het
Krtcap2	A	G	3: 89,246,256		probably benign	Het
Lhx5	C	A	5: 120,440,008	H298N	possibly damaging	Het
Notch1	A	G	2: 26,472,177	V1022A	probably benign	Het
Npc1l1	A	G	11: 6,228,741	L223S	possibly damaging	Het
Olfr1258	C	T	2: 89,930,351	P181S	possibly damaging	Het
Olfr160	C	T	9: 37,711,464	V272I	probably benign	Het
Olfr279	T	C	15: 98,498,134	F221L	probably benign	Het
Pbxip1	A	G	3: 89,446,383	D281G	possibly damaging	Het
Pcdhga8	G	C	18: 37,816,763	V411L	probably damaging	Het
Pcsk5	C	T	19: 17,451,955	C1553Y	probably damaging	Het
Pdgfc	A	C	3: 81,174,991	M164L	probably benign	Het
Pdzd8	T	C	19: 59,345,448	Y47C	probably damaging	Het
Pip5k1c	T	A	10: 81,315,111	I633N	probably damaging	Het
Pkn1	G	A	8: 83,692,927	R16*	probably null	Het
Pole2	A	G	12: 69,222,468	V85A	probably benign	Het
Ppp4c	A	C	7: 126,787,465	L150R	probably damaging	Het
Ric8a	A	G	7: 140,858,516	I223V	probably benign	Het
Rnf144a	T	A	12: 26,327,303	R92S	probably benign	Het
Sbno2	C	A	10: 80,060,492	R898L	possibly damaging	Het
Scnn1b	A	C	7: 121,912,475	N370T	probably damaging	Het
Taar3	A	G	10: 23,949,573	I6V	possibly damaging	Het
Vps13a	T	C	19: 16,695,502	E1302G	possibly damaging	Het

Other mutations in Hivep3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Hivep3	APN	4	120,098,374 (GRCm38)	missense	probably damaging	1.00
IGL01017:Hivep3	APN	4	120,099,246 (GRCm38)	missense	probably damaging	0.98
IGL01837:Hivep3	APN	4	120,094,562 (GRCm38)	missense	possibly damaging	0.72
IGL01878:Hivep3	APN	4	120,095,227 (GRCm38)	missense	possibly damaging	0.84
IGL02134:Hivep3	APN	4	120,133,574 (GRCm38)	splice site	probably benign
IGL02183:Hivep3	APN	4	120,132,024 (GRCm38)	missense	probably benign	0.04
IGL02350:Hivep3	APN	4	120,123,025 (GRCm38)	missense	probably damaging	1.00
IGL02451:Hivep3	APN	4	120,133,965 (GRCm38)	missense	probably damaging	1.00
IGL02567:Hivep3	APN	4	120,133,956 (GRCm38)	missense	probably damaging	0.99
IGL02617:Hivep3	APN	4	120,095,444 (GRCm38)	missense	probably benign	0.04
IGL02725:Hivep3	APN	4	120,095,822 (GRCm38)	missense	possibly damaging	0.48
IGL02828:Hivep3	APN	4	120,097,732 (GRCm38)	nonsense	probably null
IGL02954:Hivep3	APN	4	120,133,641 (GRCm38)	missense	probably damaging	1.00
IGL02966:Hivep3	APN	4	120,132,186 (GRCm38)	missense	probably benign	0.04
Branchial	UTSW	4	120,096,575 (GRCm38)	missense	possibly damaging	0.92
Deceit	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
Mandible	UTSW	4	120,097,121 (GRCm38)	missense	probably damaging	0.99
Sclerotic	UTSW	4	120,095,099 (GRCm38)	missense	possibly damaging	0.82
Stealth	UTSW	4	120,122,876 (GRCm38)	nonsense	probably null
Yellowjacket	UTSW	4	120,132,357 (GRCm38)	missense	probably benign	0.01
PIT4260001:Hivep3	UTSW	4	120,099,182 (GRCm38)	missense	probably damaging	1.00
R0321:Hivep3	UTSW	4	120,095,591 (GRCm38)	missense	possibly damaging	0.84
R0336:Hivep3	UTSW	4	120,103,847 (GRCm38)	missense	probably damaging	1.00
R0558:Hivep3	UTSW	4	120,096,566 (GRCm38)	missense	probably damaging	0.98
R0562:Hivep3	UTSW	4	120,096,554 (GRCm38)	missense	probably benign	0.00
R0637:Hivep3	UTSW	4	120,132,541 (GRCm38)	nonsense	probably null
R0645:Hivep3	UTSW	4	120,097,334 (GRCm38)	missense	possibly damaging	0.95
R1186:Hivep3	UTSW	4	119,814,723 (GRCm38)	start gained	probably benign
R1254:Hivep3	UTSW	4	120,099,293 (GRCm38)	missense	probably damaging	1.00
R1428:Hivep3	UTSW	4	120,096,575 (GRCm38)	missense	possibly damaging	0.92
R1623:Hivep3	UTSW	4	120,095,704 (GRCm38)	missense	possibly damaging	0.84
R1739:Hivep3	UTSW	4	120,095,174 (GRCm38)	missense	probably benign	0.03
R1766:Hivep3	UTSW	4	120,096,671 (GRCm38)	missense	probably benign
R1769:Hivep3	UTSW	4	120,097,571 (GRCm38)	missense	possibly damaging	0.68
R1773:Hivep3	UTSW	4	120,098,837 (GRCm38)	missense	probably damaging	1.00
R1968:Hivep3	UTSW	4	120,096,238 (GRCm38)	missense	possibly damaging	0.83
R2220:Hivep3	UTSW	4	119,734,038 (GRCm38)	missense	possibly damaging	0.92
R2428:Hivep3	UTSW	4	120,098,508 (GRCm38)	nonsense	probably null
R3789:Hivep3	UTSW	4	120,098,416 (GRCm38)	missense	probably damaging	1.00
R3917:Hivep3	UTSW	4	120,099,427 (GRCm38)	missense	probably benign	0.27
R4366:Hivep3	UTSW	4	120,096,089 (GRCm38)	missense	possibly damaging	0.84
R4436:Hivep3	UTSW	4	120,095,923 (GRCm38)	missense	probably benign	0.11
R4705:Hivep3	UTSW	4	119,872,050 (GRCm38)	intron	probably benign
R4713:Hivep3	UTSW	4	120,131,803 (GRCm38)	missense	probably damaging	1.00
R4756:Hivep3	UTSW	4	120,097,823 (GRCm38)	missense	probably damaging	0.98
R4887:Hivep3	UTSW	4	120,122,934 (GRCm38)	missense	probably damaging	1.00
R4888:Hivep3	UTSW	4	120,122,934 (GRCm38)	missense	probably damaging	1.00
R5008:Hivep3	UTSW	4	120,098,917 (GRCm38)	missense	probably benign	0.22
R5204:Hivep3	UTSW	4	120,103,856 (GRCm38)	critical splice donor site	probably null
R5594:Hivep3	UTSW	4	120,123,048 (GRCm38)	critical splice donor site	probably null
R5697:Hivep3	UTSW	4	120,096,955 (GRCm38)	missense	possibly damaging	0.68
R5715:Hivep3	UTSW	4	120,096,373 (GRCm38)	missense	probably benign
R5740:Hivep3	UTSW	4	120,096,023 (GRCm38)	missense	possibly damaging	0.83
R5760:Hivep3	UTSW	4	120,095,011 (GRCm38)	missense	possibly damaging	0.83
R5923:Hivep3	UTSW	4	120,096,293 (GRCm38)	missense	possibly damaging	0.92
R5927:Hivep3	UTSW	4	120,097,108 (GRCm38)	missense	possibly damaging	0.68
R6042:Hivep3	UTSW	4	120,097,864 (GRCm38)	missense	possibly damaging	0.85
R6074:Hivep3	UTSW	4	120,097,694 (GRCm38)	missense	possibly damaging	0.68
R6150:Hivep3	UTSW	4	119,734,077 (GRCm38)	nonsense	probably null
R6211:Hivep3	UTSW	4	120,098,405 (GRCm38)	missense	probably damaging	1.00
R6251:Hivep3	UTSW	4	120,094,940 (GRCm38)	missense	probably damaging	0.98
R6451:Hivep3	UTSW	4	120,098,908 (GRCm38)	missense	probably benign	0.22
R6531:Hivep3	UTSW	4	120,122,876 (GRCm38)	nonsense	probably null
R6651:Hivep3	UTSW	4	120,122,949 (GRCm38)	missense	probably damaging	1.00
R6701:Hivep3	UTSW	4	120,094,540 (GRCm38)	missense	probably damaging	0.97
R6721:Hivep3	UTSW	4	120,095,099 (GRCm38)	missense	possibly damaging	0.82
R6796:Hivep3	UTSW	4	120,096,361 (GRCm38)	missense	possibly damaging	0.68
R6864:Hivep3	UTSW	4	120,094,888 (GRCm38)	missense	possibly damaging	0.48
R6902:Hivep3	UTSW	4	120,095,995 (GRCm38)	missense	possibly damaging	0.48
R7111:Hivep3	UTSW	4	120,095,234 (GRCm38)	missense	possibly damaging	0.68
R7113:Hivep3	UTSW	4	120,098,369 (GRCm38)	missense	probably damaging	1.00
R7140:Hivep3	UTSW	4	120,097,121 (GRCm38)	missense	probably damaging	0.99
R7189:Hivep3	UTSW	4	120,132,219 (GRCm38)	missense	probably damaging	0.99
R7218:Hivep3	UTSW	4	120,095,452 (GRCm38)	missense	possibly damaging	0.92
R7366:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7368:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7491:Hivep3	UTSW	4	120,098,830 (GRCm38)	missense	probably benign	0.09
R7496:Hivep3	UTSW	4	120,132,402 (GRCm38)	missense	probably benign	0.00
R7514:Hivep3	UTSW	4	120,096,855 (GRCm38)	missense	possibly damaging	0.48
R7604:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7605:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7607:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7610:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7611:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7613:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7626:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7707:Hivep3	UTSW	4	119,733,959 (GRCm38)	missense
R7736:Hivep3	UTSW	4	120,095,543 (GRCm38)	missense	possibly damaging	0.92
R7915:Hivep3	UTSW	4	120,097,765 (GRCm38)	missense	possibly damaging	0.83
R7943:Hivep3	UTSW	4	120,132,357 (GRCm38)	missense	probably benign	0.01
R7972:Hivep3	UTSW	4	120,097,514 (GRCm38)	missense	possibly damaging	0.48
R8093:Hivep3	UTSW	4	120,095,435 (GRCm38)	missense	possibly damaging	0.68
R8111:Hivep3	UTSW	4	120,098,386 (GRCm38)	missense	probably damaging	0.99
R8215:Hivep3	UTSW	4	120,122,901 (GRCm38)	missense	probably damaging	1.00
R8364:Hivep3	UTSW	4	120,099,442 (GRCm38)	missense	probably benign	0.10
R8467:Hivep3	UTSW	4	120,095,041 (GRCm38)	missense	probably damaging	0.98
R8768:Hivep3	UTSW	4	120,132,324 (GRCm38)	missense	probably damaging	0.99
R8890:Hivep3	UTSW	4	120,096,460 (GRCm38)	missense	possibly damaging	0.95
R8902:Hivep3	UTSW	4	120,096,740 (GRCm38)	missense	possibly damaging	0.83
R9022:Hivep3	UTSW	4	120,098,107 (GRCm38)	missense	probably benign	0.09
R9336:Hivep3	UTSW	4	120,095,203 (GRCm38)	missense	possibly damaging	0.84
R9606:Hivep3	UTSW	4	120,132,589 (GRCm38)	missense	probably damaging	0.98
RF019:Hivep3	UTSW	4	120,098,270 (GRCm38)	missense	probably benign	0.12
X0062:Hivep3	UTSW	4	120,098,698 (GRCm38)	missense	probably damaging	1.00
X0067:Hivep3	UTSW	4	120,131,787 (GRCm38)	missense	probably damaging	0.96
Z1176:Hivep3	UTSW	4	120,133,782 (GRCm38)	missense	probably damaging	1.00
Z1177:Hivep3	UTSW	4	120,131,778 (GRCm38)	nonsense	probably null
Z1177:Hivep3	UTSW	4	120,095,946 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CTAGCACTGGTTTACGCTCTGC -3'
(R):5'- AAATCTGTCCACGAGTGCAAC -3'

Sequencing Primer
(F):5'- GGTTTACGCTCTGCCCTCTGAG -3'
(R):5'- TCCACGAGTGCAACACGGG -3'

Posted On

2016-06-30