Incidental Mutation 'R9022:Hivep3'
ID 686265
Institutional Source Beutler Lab
Gene Symbol Hivep3
Ensembl Gene ENSMUSG00000028634
Gene Name human immunodeficiency virus type I enhancer binding protein 3
Synonyms Krc, E030045D18Rik, Schnurri-3, Shn3, 2900056N03Rik
MMRRC Submission 068852-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9022 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 119590982-119992608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119955304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1207 (S1207P)
Ref Sequence ENSEMBL: ENSMUSP00000101914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106307] [ENSMUST00000166542] [ENSMUST00000226560]
AlphaFold A2A884
Predicted Effect probably benign
Transcript: ENSMUST00000106307
AA Change: S1207P

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: S1207P

DomainStartEndE-ValueType
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: ENSMUST00000166542
AA Change: S1207P

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: S1207P

DomainStartEndE-ValueType
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 0.0716 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (84/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G T 3: 32,769,649 (GRCm39) A155S probably benign Het
Adar A G 3: 89,643,045 (GRCm39) T309A probably benign Het
Adgrv1 A T 13: 81,303,312 (GRCm39) W6125R probably damaging Het
Adprhl1 A G 8: 13,274,352 (GRCm39) L802P probably benign Het
Ahcy A G 2: 154,910,779 (GRCm39) L63P probably damaging Het
Ang5 G A 14: 44,200,352 (GRCm39) D139N probably damaging Het
Ankrd31 A G 13: 96,962,655 (GRCm39) D482G probably benign Het
Arhgef7 A G 8: 11,850,469 (GRCm39) N257D probably benign Het
Art3 C A 5: 92,540,393 (GRCm39) S45R probably benign Het
Atxn1 T C 13: 45,720,891 (GRCm39) R335G probably damaging Het
Bag6 T A 17: 35,363,641 (GRCm39) L775H probably damaging Het
BC004004 T G 17: 29,501,130 (GRCm39) H26Q possibly damaging Het
Camsap3 T C 8: 3,656,575 (GRCm39) L986S probably benign Het
Cbx5 T C 15: 103,121,586 (GRCm39) E17G probably damaging Het
Cc2d1b T C 4: 108,484,617 (GRCm39) probably null Het
Ccdc59 T C 10: 105,683,007 (GRCm39) Y231H probably damaging Het
Cemip2 T C 19: 21,789,986 (GRCm39) probably null Het
Csnk1g1 T C 9: 65,917,854 (GRCm39) probably null Het
Cybrd1 A G 2: 70,967,904 (GRCm39) I158M possibly damaging Het
Disp2 T A 2: 118,621,179 (GRCm39) I637N probably benign Het
Dll4 TC T 2: 119,163,054 (GRCm39) probably null Het
Dnah7a T C 1: 53,512,116 (GRCm39) probably null Het
Duox2 C A 2: 122,110,919 (GRCm39) *1518L probably null Het
Dym A G 18: 75,258,507 (GRCm39) I422V probably benign Het
Entpd8 A C 2: 24,975,144 (GRCm39) I492L probably benign Het
Fabp12 A G 3: 10,317,333 (GRCm39) S13P probably damaging Het
Fam124b A G 1: 80,190,705 (GRCm39) I226T probably damaging Het
Fer1l6 T C 15: 58,455,329 (GRCm39) L763P probably damaging Het
Git2 A G 5: 114,907,676 (GRCm39) probably null Het
Gltpd2 A T 11: 70,410,153 (GRCm39) Y37F probably benign Het
Gm44511 T G 6: 128,797,271 (GRCm39) Q72H possibly damaging Het
Grid2ip A T 5: 143,366,204 (GRCm39) T565S probably benign Het
Grk6 T C 13: 55,606,877 (GRCm39) S532P possibly damaging Het
Haspin A T 11: 73,026,831 (GRCm39) F753I probably damaging Het
Herpud1 T A 8: 95,116,197 (GRCm39) S92T possibly damaging Het
Heyl C T 4: 123,139,768 (GRCm39) A109V probably damaging Het
Hk1 A G 10: 62,105,768 (GRCm39) S893P probably damaging Het
Itih1 C A 14: 30,652,327 (GRCm39) V789L probably benign Het
Kif12 T C 4: 63,090,121 (GRCm39) D10G possibly damaging Het
Kif16b C T 2: 142,554,537 (GRCm39) E754K possibly damaging Het
Kif20a A G 18: 34,760,898 (GRCm39) Q191R probably benign Het
Lap3 A G 5: 45,652,548 (GRCm39) D48G probably benign Het
Matn3 T A 12: 9,002,355 (GRCm39) V189E probably damaging Het
Mbp G A 18: 82,597,067 (GRCm39) E143K possibly damaging Het
Mrgprd A G 7: 144,875,555 (GRCm39) H142R probably benign Het
Nbea A T 3: 55,551,110 (GRCm39) C2685S possibly damaging Het
Nhsl1 A C 10: 18,403,409 (GRCm39) I1381L possibly damaging Het
Npc1 A G 18: 12,346,422 (GRCm39) M258T probably benign Het
Or2w3 T C 11: 58,556,550 (GRCm39) L55P probably damaging Het
Or7e178 T A 9: 20,225,268 (GRCm39) N316I probably damaging Het
Osbpl10 C T 9: 114,807,939 (GRCm39) A65V unknown Het
Pdia4 C G 6: 47,785,149 (GRCm39) A73P probably benign Het
Plxnb2 T C 15: 89,048,471 (GRCm39) Y646C possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Pold2 T C 11: 5,824,121 (GRCm39) D228G probably benign Het
Popdc2 T G 16: 38,194,508 (GRCm39) C310G probably benign Het
Prdm10 A G 9: 31,268,424 (GRCm39) Y791C probably benign Het
Psg19 C T 7: 18,530,762 (GRCm39) V131I probably benign Het
Psg19 T A 7: 18,531,044 (GRCm39) T37S probably benign Het
Psme1 A G 14: 55,817,271 (GRCm39) E39G probably damaging Het
Rabep2 A G 7: 126,043,719 (GRCm39) E472G probably damaging Het
Rap1gap T C 4: 137,445,309 (GRCm39) F297S probably damaging Het
Reln A G 5: 22,181,613 (GRCm39) S1757P possibly damaging Het
Rybp G T 6: 100,210,074 (GRCm39) D95E possibly damaging Het
Slc12a8 T A 16: 33,466,934 (GRCm39) D480E probably benign Het
Slc25a1 A G 16: 17,745,294 (GRCm39) V80A probably benign Het
Slc25a24 A T 3: 109,070,757 (GRCm39) D372V probably benign Het
Slc49a4 T C 16: 35,570,912 (GRCm39) T131A probably benign Het
Stab1 T C 14: 30,882,226 (GRCm39) T490A probably benign Het
Stat5b A T 11: 100,681,634 (GRCm39) I540N probably benign Het
Tasor2 A G 13: 3,626,659 (GRCm39) V1097A probably benign Het
Thy1 T A 9: 43,957,947 (GRCm39) L25Q probably damaging Het
Trim30a A G 7: 104,084,956 (GRCm39) S85P probably benign Het
Use1 G A 8: 71,819,942 (GRCm39) V36I probably benign Het
Vmn1r228 T A 17: 20,996,778 (GRCm39) I247F probably damaging Het
Vmn2r13 T A 5: 109,304,242 (GRCm39) T730S possibly damaging Het
Vmn2r9 T C 5: 108,992,923 (GRCm39) D529G possibly damaging Het
Washc5 A G 15: 59,217,233 (GRCm39) I778T possibly damaging Het
Washc5 A T 15: 59,233,069 (GRCm39) M294K probably damaging Het
Wnt8a A T 18: 34,680,298 (GRCm39) D221V probably damaging Het
Zfp616 A G 11: 73,976,539 (GRCm39) K936R probably damaging Het
Zfp618 G A 4: 63,012,687 (GRCm39) C133Y probably damaging Het
Zfp82 A G 7: 29,761,714 (GRCm39) S56P probably damaging Het
Zkscan16 T A 4: 58,957,021 (GRCm39) D434E probably benign Het
Other mutations in Hivep3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Hivep3 APN 4 119,955,571 (GRCm39) missense probably damaging 1.00
IGL01017:Hivep3 APN 4 119,956,443 (GRCm39) missense probably damaging 0.98
IGL01837:Hivep3 APN 4 119,951,759 (GRCm39) missense possibly damaging 0.72
IGL01878:Hivep3 APN 4 119,952,424 (GRCm39) missense possibly damaging 0.84
IGL02134:Hivep3 APN 4 119,990,771 (GRCm39) splice site probably benign
IGL02183:Hivep3 APN 4 119,989,221 (GRCm39) missense probably benign 0.04
IGL02350:Hivep3 APN 4 119,980,222 (GRCm39) missense probably damaging 1.00
IGL02451:Hivep3 APN 4 119,991,162 (GRCm39) missense probably damaging 1.00
IGL02567:Hivep3 APN 4 119,991,153 (GRCm39) missense probably damaging 0.99
IGL02617:Hivep3 APN 4 119,952,641 (GRCm39) missense probably benign 0.04
IGL02725:Hivep3 APN 4 119,953,019 (GRCm39) missense possibly damaging 0.48
IGL02828:Hivep3 APN 4 119,954,929 (GRCm39) nonsense probably null
IGL02954:Hivep3 APN 4 119,990,838 (GRCm39) missense probably damaging 1.00
IGL02966:Hivep3 APN 4 119,989,383 (GRCm39) missense probably benign 0.04
Branchial UTSW 4 119,953,772 (GRCm39) missense possibly damaging 0.92
Deceit UTSW 4 119,955,108 (GRCm39) frame shift probably null
Mandible UTSW 4 119,954,318 (GRCm39) missense probably damaging 0.99
Sclerotic UTSW 4 119,952,296 (GRCm39) missense possibly damaging 0.82
Stealth UTSW 4 119,980,073 (GRCm39) nonsense probably null
Yellowjacket UTSW 4 119,989,554 (GRCm39) missense probably benign 0.01
PIT4260001:Hivep3 UTSW 4 119,956,379 (GRCm39) missense probably damaging 1.00
R0321:Hivep3 UTSW 4 119,952,788 (GRCm39) missense possibly damaging 0.84
R0336:Hivep3 UTSW 4 119,961,044 (GRCm39) missense probably damaging 1.00
R0558:Hivep3 UTSW 4 119,953,763 (GRCm39) missense probably damaging 0.98
R0562:Hivep3 UTSW 4 119,953,751 (GRCm39) missense probably benign 0.00
R0637:Hivep3 UTSW 4 119,989,738 (GRCm39) nonsense probably null
R0645:Hivep3 UTSW 4 119,954,531 (GRCm39) missense possibly damaging 0.95
R1186:Hivep3 UTSW 4 119,671,920 (GRCm39) start gained probably benign
R1254:Hivep3 UTSW 4 119,956,490 (GRCm39) missense probably damaging 1.00
R1428:Hivep3 UTSW 4 119,953,772 (GRCm39) missense possibly damaging 0.92
R1623:Hivep3 UTSW 4 119,952,901 (GRCm39) missense possibly damaging 0.84
R1739:Hivep3 UTSW 4 119,952,371 (GRCm39) missense probably benign 0.03
R1766:Hivep3 UTSW 4 119,953,868 (GRCm39) missense probably benign
R1769:Hivep3 UTSW 4 119,954,768 (GRCm39) missense possibly damaging 0.68
R1773:Hivep3 UTSW 4 119,956,034 (GRCm39) missense probably damaging 1.00
R1968:Hivep3 UTSW 4 119,953,435 (GRCm39) missense possibly damaging 0.83
R2220:Hivep3 UTSW 4 119,591,235 (GRCm39) missense possibly damaging 0.92
R2428:Hivep3 UTSW 4 119,955,705 (GRCm39) nonsense probably null
R3789:Hivep3 UTSW 4 119,955,613 (GRCm39) missense probably damaging 1.00
R3917:Hivep3 UTSW 4 119,956,624 (GRCm39) missense probably benign 0.27
R4366:Hivep3 UTSW 4 119,953,286 (GRCm39) missense possibly damaging 0.84
R4436:Hivep3 UTSW 4 119,953,120 (GRCm39) missense probably benign 0.11
R4504:Hivep3 UTSW 4 119,590,990 (GRCm39) unclassified probably benign
R4705:Hivep3 UTSW 4 119,729,247 (GRCm39) intron probably benign
R4713:Hivep3 UTSW 4 119,989,000 (GRCm39) missense probably damaging 1.00
R4756:Hivep3 UTSW 4 119,955,020 (GRCm39) missense probably damaging 0.98
R4887:Hivep3 UTSW 4 119,980,131 (GRCm39) missense probably damaging 1.00
R4888:Hivep3 UTSW 4 119,980,131 (GRCm39) missense probably damaging 1.00
R5008:Hivep3 UTSW 4 119,956,114 (GRCm39) missense probably benign 0.22
R5204:Hivep3 UTSW 4 119,961,053 (GRCm39) critical splice donor site probably null
R5594:Hivep3 UTSW 4 119,980,245 (GRCm39) critical splice donor site probably null
R5697:Hivep3 UTSW 4 119,954,152 (GRCm39) missense possibly damaging 0.68
R5715:Hivep3 UTSW 4 119,953,570 (GRCm39) missense probably benign
R5740:Hivep3 UTSW 4 119,953,220 (GRCm39) missense possibly damaging 0.83
R5760:Hivep3 UTSW 4 119,952,208 (GRCm39) missense possibly damaging 0.83
R5923:Hivep3 UTSW 4 119,953,490 (GRCm39) missense possibly damaging 0.92
R5927:Hivep3 UTSW 4 119,954,305 (GRCm39) missense possibly damaging 0.68
R6042:Hivep3 UTSW 4 119,955,061 (GRCm39) missense possibly damaging 0.85
R6074:Hivep3 UTSW 4 119,954,891 (GRCm39) missense possibly damaging 0.68
R6150:Hivep3 UTSW 4 119,591,274 (GRCm39) nonsense probably null
R6211:Hivep3 UTSW 4 119,955,602 (GRCm39) missense probably damaging 1.00
R6251:Hivep3 UTSW 4 119,952,137 (GRCm39) missense probably damaging 0.98
R6451:Hivep3 UTSW 4 119,956,105 (GRCm39) missense probably benign 0.22
R6531:Hivep3 UTSW 4 119,980,073 (GRCm39) nonsense probably null
R6651:Hivep3 UTSW 4 119,980,146 (GRCm39) missense probably damaging 1.00
R6701:Hivep3 UTSW 4 119,951,737 (GRCm39) missense probably damaging 0.97
R6721:Hivep3 UTSW 4 119,952,296 (GRCm39) missense possibly damaging 0.82
R6796:Hivep3 UTSW 4 119,953,558 (GRCm39) missense possibly damaging 0.68
R6864:Hivep3 UTSW 4 119,952,085 (GRCm39) missense possibly damaging 0.48
R6902:Hivep3 UTSW 4 119,953,192 (GRCm39) missense possibly damaging 0.48
R7111:Hivep3 UTSW 4 119,952,431 (GRCm39) missense possibly damaging 0.68
R7113:Hivep3 UTSW 4 119,955,566 (GRCm39) missense probably damaging 1.00
R7140:Hivep3 UTSW 4 119,954,318 (GRCm39) missense probably damaging 0.99
R7189:Hivep3 UTSW 4 119,989,416 (GRCm39) missense probably damaging 0.99
R7218:Hivep3 UTSW 4 119,952,649 (GRCm39) missense possibly damaging 0.92
R7366:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7368:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7491:Hivep3 UTSW 4 119,956,027 (GRCm39) missense probably benign 0.09
R7496:Hivep3 UTSW 4 119,989,599 (GRCm39) missense probably benign 0.00
R7514:Hivep3 UTSW 4 119,954,052 (GRCm39) missense possibly damaging 0.48
R7604:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7605:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7607:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7610:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7611:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7613:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7626:Hivep3 UTSW 4 119,955,108 (GRCm39) frame shift probably null
R7707:Hivep3 UTSW 4 119,591,156 (GRCm39) missense
R7736:Hivep3 UTSW 4 119,952,740 (GRCm39) missense possibly damaging 0.92
R7915:Hivep3 UTSW 4 119,954,962 (GRCm39) missense possibly damaging 0.83
R7943:Hivep3 UTSW 4 119,989,554 (GRCm39) missense probably benign 0.01
R7972:Hivep3 UTSW 4 119,954,711 (GRCm39) missense possibly damaging 0.48
R8093:Hivep3 UTSW 4 119,952,632 (GRCm39) missense possibly damaging 0.68
R8111:Hivep3 UTSW 4 119,955,583 (GRCm39) missense probably damaging 0.99
R8215:Hivep3 UTSW 4 119,980,098 (GRCm39) missense probably damaging 1.00
R8364:Hivep3 UTSW 4 119,956,639 (GRCm39) missense probably benign 0.10
R8467:Hivep3 UTSW 4 119,952,238 (GRCm39) missense probably damaging 0.98
R8768:Hivep3 UTSW 4 119,989,521 (GRCm39) missense probably damaging 0.99
R8890:Hivep3 UTSW 4 119,953,657 (GRCm39) missense possibly damaging 0.95
R8902:Hivep3 UTSW 4 119,953,937 (GRCm39) missense possibly damaging 0.83
R9336:Hivep3 UTSW 4 119,952,400 (GRCm39) missense possibly damaging 0.84
R9606:Hivep3 UTSW 4 119,989,786 (GRCm39) missense probably damaging 0.98
RF019:Hivep3 UTSW 4 119,955,467 (GRCm39) missense probably benign 0.12
X0062:Hivep3 UTSW 4 119,955,895 (GRCm39) missense probably damaging 1.00
X0067:Hivep3 UTSW 4 119,988,984 (GRCm39) missense probably damaging 0.96
Z1176:Hivep3 UTSW 4 119,990,979 (GRCm39) missense probably damaging 1.00
Z1177:Hivep3 UTSW 4 119,988,975 (GRCm39) nonsense probably null
Z1177:Hivep3 UTSW 4 119,953,143 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- GTTCTTCCCCACACAAGCAATG -3'
(R):5'- TGACACCATGGCATCTGGAC -3'

Sequencing Primer
(F):5'- CACAAGCAATGGCCGGC -3'
(R):5'- CATGGCATCTGGACAGGCAG -3'
Posted On 2021-10-11