Incidental Mutation 'R4705:Hivep3'
ID 355098
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 041953-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4705 (G1)
Quality Score 214
Status Validated
Chromosome 4
Chromosomal Location 119590982-119992608 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 119729247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106307]
AlphaFold A2A884
Predicted Effect probably benign
Transcript: ENSMUST00000106307
SMART Domains Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634

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 noncoding transcript
Transcript: ENSMUST00000123698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143837
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 96% (113/118)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,369 (GRCm39) V230A possibly damaging Het
2010315B03Rik T C 9: 124,056,631 (GRCm39) T123A possibly damaging Het
Abca4 T C 3: 121,899,019 (GRCm39) V667A probably damaging Het
Abcb5 A G 12: 118,929,040 (GRCm39) S4P possibly damaging Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Ahnak C A 19: 8,994,270 (GRCm39) H5185N probably benign Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Aspscr1 A T 11: 120,579,771 (GRCm39) K39N possibly damaging Het
Atf7ip C T 6: 136,538,192 (GRCm39) P483L probably damaging Het
Atp11a C G 8: 12,863,118 (GRCm39) P99R probably damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
Bag6 C A 17: 35,361,319 (GRCm39) P476H probably damaging Het
Bltp1 C T 3: 37,096,038 (GRCm39) T1108I probably benign Het
C2cd3 A G 7: 100,044,395 (GRCm39) K326E possibly damaging Het
Casp1 A G 9: 5,306,204 (GRCm39) D363G probably damaging Het
Ccdc33 G T 9: 58,024,840 (GRCm39) Q129K probably benign Het
Ccdc88a T C 11: 29,372,586 (GRCm39) I107T probably benign Het
Cela2a T C 4: 141,548,722 (GRCm39) N138S probably benign Het
Cfap61 A C 2: 145,877,122 (GRCm39) R460S probably damaging Het
Clstn2 T C 9: 97,345,612 (GRCm39) N579D possibly damaging Het
Col13a1 C A 10: 61,685,944 (GRCm39) G683W unknown Het
Col4a2 G A 8: 11,363,504 (GRCm39) R14Q possibly damaging Het
Cpa6 A G 1: 10,551,283 (GRCm39) S164P probably benign Het
Cpq A G 15: 33,497,484 (GRCm39) N408S probably benign Het
Ctnnal1 T C 4: 56,812,579 (GRCm39) T690A probably benign Het
Cx3cl1 A T 8: 95,506,835 (GRCm39) N280I probably benign Het
Cyp2b19 C T 7: 26,456,717 (GRCm39) R36C probably benign Het
Ddx51 T C 5: 110,803,174 (GRCm39) V269A probably damaging Het
Dipk2a T C 9: 94,402,688 (GRCm39) N325D possibly damaging Het
Dlst G T 12: 85,165,616 (GRCm39) probably null Het
Dmkn G C 7: 30,463,406 (GRCm39) A20P probably damaging Het
Dnhd1 T C 7: 105,304,948 (GRCm39) I330T probably damaging Het
Dock3 G A 9: 106,902,535 (GRCm39) H292Y probably damaging Het
Ell A G 8: 71,031,584 (GRCm39) D94G possibly damaging Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Fam3d T C 14: 8,349,347 (GRCm38) E201G probably benign Het
Fcgbp A G 7: 27,806,721 (GRCm39) K2230E probably benign Het
Frmd5 G T 2: 121,393,344 (GRCm39) probably benign Het
Gas2l1 G A 11: 5,010,867 (GRCm39) S654L possibly damaging Het
Gltpd2 G T 11: 70,410,966 (GRCm39) E86* probably null Het
Glyat T C 19: 12,628,661 (GRCm39) L152P possibly damaging Het
Gm17330 T C 12: 24,018,783 (GRCm39) T22A probably damaging Het
Gm9931 T A 1: 147,157,591 (GRCm39) noncoding transcript Het
Gpatch1 A T 7: 34,998,730 (GRCm39) probably null Het
Gpr4 T C 7: 18,956,819 (GRCm39) L247P probably damaging Het
Gtpbp3 G A 8: 71,943,758 (GRCm39) E214K probably benign Het
Hdac7 G T 15: 97,709,468 (GRCm39) Q21K probably damaging Het
Hk2 C T 6: 82,716,631 (GRCm39) M300I possibly damaging Het
Ighv1-61 T C 12: 115,322,899 (GRCm39) Y71C probably damaging Het
Il36b T C 2: 24,044,630 (GRCm39) V10A probably benign Het
Inpp5f G T 7: 128,265,711 (GRCm39) S152I probably damaging Het
Jag1 C A 2: 136,938,229 (GRCm39) W257L probably damaging Het
Jak2 T A 19: 29,272,315 (GRCm39) N612K possibly damaging Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kbtbd6 A G 14: 79,690,046 (GRCm39) D247G probably benign Het
Kif15 A G 9: 122,789,058 (GRCm39) probably null Het
Kndc1 A G 7: 139,510,036 (GRCm39) T1293A possibly damaging Het
Lpar5 T C 6: 125,059,170 (GRCm39) I297T possibly damaging Het
Lpin2 T A 17: 71,539,138 (GRCm39) probably benign Het
Lypd10 T A 7: 24,412,934 (GRCm39) L114Q probably damaging Het
Mfsd4a A T 1: 131,981,309 (GRCm39) L230Q probably damaging Het
Mmp8 T C 9: 7,565,550 (GRCm39) V313A probably benign Het
Mrpl19 A T 6: 81,941,266 (GRCm39) D98E probably damaging Het
Mybl1 A G 1: 9,760,340 (GRCm39) I86T probably damaging Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Necab1 T C 4: 15,052,628 (GRCm39) T117A probably damaging Het
Nol11 A G 11: 107,075,544 (GRCm39) probably benign Het
Nucb2 G A 7: 116,139,262 (GRCm39) probably null Het
Nup58 G T 14: 60,488,664 (GRCm39) P19T unknown Het
Odf2 T A 2: 29,794,046 (GRCm39) L301Q probably damaging Het
Oog4 T C 4: 143,165,445 (GRCm39) Y234C probably benign Het
Or11j4 A G 14: 50,630,257 (GRCm39) I15V probably benign Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Papln T C 12: 83,823,982 (GRCm39) probably null Het
Paqr6 C T 3: 88,273,236 (GRCm39) A76V probably benign Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pdzd8 T C 19: 59,333,743 (GRCm39) T93A possibly damaging Het
Pkdrej A T 15: 85,705,368 (GRCm39) Y189* probably null Het
Pknox2 A T 9: 36,834,934 (GRCm39) N178K possibly damaging Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Plxnd1 A C 6: 115,935,581 (GRCm39) L1735R probably damaging Het
Polm T A 11: 5,787,663 (GRCm39) D30V possibly damaging Het
Rap1gap2 T A 11: 74,328,265 (GRCm39) I100F probably damaging Het
Rasgef1c T A 11: 49,869,294 (GRCm39) W414R probably benign Het
Rassf1 A G 9: 107,435,066 (GRCm39) D187G probably benign Het
Rhag T C 17: 41,147,329 (GRCm39) I397T probably benign Het
Rnft2 A G 5: 118,366,928 (GRCm39) F269S probably damaging Het
Rnmt T C 18: 68,447,196 (GRCm39) F360S probably damaging Het
Ror2 C T 13: 53,271,333 (GRCm39) A329T probably benign Het
Slc4a1 T A 11: 102,247,084 (GRCm39) N501I possibly damaging Het
Slc4a7 T A 14: 14,733,856 (GRCm38) S89T probably damaging Het
Sptbn1 G A 11: 30,050,660 (GRCm39) H2310Y probably benign Het
Tbc1d9b C A 11: 50,031,289 (GRCm39) N103K probably benign Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tmem100 C T 11: 89,926,389 (GRCm39) T72I probably damaging Het
Ttc38 A G 15: 85,737,164 (GRCm39) T350A probably benign Het
Ubr4 C T 4: 139,177,840 (GRCm39) T3241M probably damaging Het
Unc13d A T 11: 115,964,214 (GRCm39) M350K possibly damaging Het
Vit T C 17: 78,932,543 (GRCm39) I550T probably damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Zbtb12 T A 17: 35,115,377 (GRCm39) H387Q possibly damaging 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
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
R9022:Hivep3 UTSW 4 119,955,304 (GRCm39) missense probably benign 0.09
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'- GAAGTGGATCTGCTAGCACG -3'
(R):5'- GGGGCTTCTGGAAGTACATG -3'

Sequencing Primer
(F):5'- CTGCTAGCACGCATGTTAATG -3'
(R):5'- AAGTACATGTCTTGGAGATCCCG -3'
Posted On 2015-10-21