Incidental Mutation 'R0558:Hivep3'
ID 45707
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 038750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0558 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 119590982-119992608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 119953763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 693 (L693R)
Ref Sequence ENSEMBL: ENSMUSP00000130249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106307] [ENSMUST00000166542] [ENSMUST00000226560]
AlphaFold A2A884
Predicted Effect probably damaging
Transcript: ENSMUST00000106307
AA Change: L693R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: L693R

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 damaging
Transcript: ENSMUST00000166542
AA Change: L693R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: L693R

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 0.6423 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (80/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,789,163 (GRCm39) G273R probably benign Het
Adamts10 T C 17: 33,769,583 (GRCm39) V935A probably benign Het
Anapc15-ps T C 10: 95,508,983 (GRCm39) D90G probably damaging Het
Atic T A 1: 71,602,947 (GRCm39) V107E probably benign Het
Atp4b T C 8: 13,443,523 (GRCm39) T52A possibly damaging Het
Cacna1h C T 17: 25,600,524 (GRCm39) A1606T probably damaging Het
Cacng6 T A 7: 3,483,324 (GRCm39) Y217* probably null Het
Cc2d2a T G 5: 43,881,729 (GRCm39) probably benign Het
Cd226 T A 18: 89,225,338 (GRCm39) H78Q probably benign Het
Cers3 A G 7: 66,433,166 (GRCm39) D161G probably damaging Het
Ces1f T C 8: 94,002,017 (GRCm39) H37R probably benign Het
Cfhr4 A G 1: 139,667,230 (GRCm39) V376A probably damaging Het
Chek1 T A 9: 36,623,411 (GRCm39) N421I possibly damaging Het
Cibar1 T C 4: 12,164,095 (GRCm39) D248G probably damaging Het
Cma2 T C 14: 56,210,249 (GRCm39) Y45H probably damaging Het
Cmas C A 6: 142,720,970 (GRCm39) Y401* probably null Het
Cyp2j8 A T 4: 96,332,871 (GRCm39) S492T probably benign Het
Dnah12 T C 14: 26,430,465 (GRCm39) S358P probably benign Het
Dnajc13 T C 9: 104,079,151 (GRCm39) probably null Het
Ep400 A C 5: 110,832,933 (GRCm39) probably benign Het
Fam209 T A 2: 172,314,758 (GRCm39) N82K probably benign Het
G3bp2 A T 5: 92,221,056 (GRCm39) Y20N probably damaging Het
Gli2 T C 1: 118,765,379 (GRCm39) D924G probably benign Het
Gm10787 T C 10: 76,857,850 (GRCm39) noncoding transcript Het
Gm11568 A G 11: 99,748,872 (GRCm39) R26G unknown Het
Hook1 A G 4: 95,881,449 (GRCm39) probably benign Het
Ibtk A C 9: 85,619,591 (GRCm39) D116E probably damaging Het
Insrr C T 3: 87,718,288 (GRCm39) T927I possibly damaging Het
Irx1 T G 13: 72,107,747 (GRCm39) S312R probably benign Het
Itga11 T C 9: 62,659,570 (GRCm39) Y441H probably benign Het
Itsn1 A G 16: 91,696,511 (GRCm39) D38G possibly damaging Het
Kat6b G T 14: 21,719,489 (GRCm39) E1280D probably benign Het
Kcnk10 T A 12: 98,402,560 (GRCm39) Y293F possibly damaging Het
Krt74 T A 15: 101,669,398 (GRCm39) noncoding transcript Het
Lars1 T G 18: 42,347,902 (GRCm39) I974L probably benign Het
Limch1 A G 5: 67,126,498 (GRCm39) D42G probably damaging Het
Mau2 G C 8: 70,495,082 (GRCm39) T85R probably damaging Het
Mkrn3 A G 7: 62,068,612 (GRCm39) I393T probably benign Het
Mpl A C 4: 118,301,217 (GRCm39) S541R probably damaging Het
Nfrkb T C 9: 31,321,564 (GRCm39) S754P possibly damaging Het
Or4c125 A G 2: 89,170,580 (GRCm39) L22P probably benign Het
Or5bw2 T C 7: 6,573,652 (GRCm39) Y221H possibly damaging Het
Or5d41 A G 2: 88,054,818 (GRCm39) V186A possibly damaging Het
Or8g18 T A 9: 39,149,496 (GRCm39) T75S probably damaging Het
P2rx7 A T 5: 122,811,861 (GRCm39) I391F possibly damaging Het
Pbrm1 T A 14: 30,807,016 (GRCm39) probably null Het
Pcdh8 T C 14: 80,007,516 (GRCm39) D349G probably damaging Het
Pias1 A G 9: 62,789,291 (GRCm39) S639P possibly damaging Het
Pkhd1l1 A T 15: 44,347,820 (GRCm39) I232F probably damaging Het
Plxnc1 C T 10: 94,673,797 (GRCm39) R995Q probably damaging Het
Pnliprp2 T A 19: 58,762,519 (GRCm39) S375T probably benign Het
Prkar1b C T 5: 139,005,847 (GRCm39) V313M probably benign Het
Prr35 T C 17: 26,166,523 (GRCm39) N338S probably benign Het
Ptpn13 T C 5: 103,677,583 (GRCm39) S734P probably damaging Het
Rdh1 T C 10: 127,595,810 (GRCm39) W2R possibly damaging Het
Rsph10b A T 5: 143,886,156 (GRCm39) I285L probably benign Het
Rubcnl T C 14: 75,284,987 (GRCm39) F502S probably damaging Het
Ryr2 T A 13: 11,653,329 (GRCm39) I3693F probably damaging Het
Ryr2 T C 13: 11,814,747 (GRCm39) Y675C probably damaging Het
Scaper T C 9: 55,593,207 (GRCm39) T477A probably benign Het
Scn2a G T 2: 65,542,269 (GRCm39) V791L probably benign Het
Sdk1 A T 5: 142,117,820 (GRCm39) T1573S probably damaging Het
Sema3c A T 5: 17,919,413 (GRCm39) H483L probably benign Het
Sema6c T C 3: 95,076,002 (GRCm39) S219P probably damaging Het
Slc10a5 T G 3: 10,400,177 (GRCm39) E161A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Slc34a3 C T 2: 25,123,077 (GRCm39) probably benign Het
Slc38a9 A T 13: 112,865,730 (GRCm39) probably null Het
Taok1 A C 11: 77,450,670 (GRCm39) S367R possibly damaging Het
Tlr6 G A 5: 65,112,203 (GRCm39) Q235* probably null Het
Top2a A G 11: 98,887,665 (GRCm39) V1281A probably benign Het
Tpgs1 T C 10: 79,511,616 (GRCm39) Y253H probably damaging Het
Tubgcp3 T C 8: 12,703,462 (GRCm39) T288A probably benign Het
Ubr4 A G 4: 139,154,213 (GRCm39) E2140G probably benign Het
Uso1 A G 5: 92,321,878 (GRCm39) Q257R probably benign Het
Zfp106 A G 2: 120,362,677 (GRCm39) V48A probably damaging Het
Zfp174 T A 16: 3,666,118 (GRCm39) S128T possibly damaging Het
Zscan26 T A 13: 21,629,225 (GRCm39) D426V 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
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
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'- AGGCGCGAACTATGAATGTACCATC -3'
(R):5'- GTGGGTCAGACTTCTCAAAGGAGC -3'

Sequencing Primer
(F):5'- AATGTACCATCTGCGGTGCTC -3'
(R):5'- ACTTCTCAAAGGAGCTGGTG -3'
Posted On 2013-06-11