Incidental Mutation 'R6701:Hivep3'
ID 528728
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 044819-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6701 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 119590982-119992608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119951737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 18 (R18W)
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: R18W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: R18W

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: R18W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: R18W

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 96.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,305,243 (GRCm39) K684N probably damaging Het
Akna C T 4: 63,313,517 (GRCm39) G202D probably benign Het
Alpk1 T A 3: 127,522,985 (GRCm39) D19V probably damaging Het
Arid4a A T 12: 71,134,286 (GRCm39) K1196I probably damaging Het
Asic3 A T 5: 24,619,127 (GRCm39) M140L possibly damaging Het
Bfsp2 C T 9: 103,357,077 (GRCm39) V117M possibly damaging Het
Bltp3a T A 17: 28,106,331 (GRCm39) C952* probably null Het
Cd244a C A 1: 171,401,723 (GRCm39) L150M possibly damaging Het
Cd3e T C 9: 44,912,351 (GRCm39) Y131C probably damaging Het
Clptm1l T C 13: 73,757,025 (GRCm39) I202T probably benign Het
Cnot4 G T 6: 35,045,539 (GRCm39) T224K probably damaging Het
Col24a1 A G 3: 145,020,141 (GRCm39) T171A probably benign Het
Col6a3 C T 1: 90,720,184 (GRCm39) R1552Q probably benign Het
Dcc T A 18: 71,942,191 (GRCm39) T309S probably benign Het
Ddx21 T C 10: 62,426,470 (GRCm39) Y461C probably damaging Het
Dnah10 G A 5: 124,837,223 (GRCm39) V989M probably benign Het
Dppa4 A T 16: 48,111,674 (GRCm39) K220* probably null Het
Dysf G A 6: 84,089,172 (GRCm39) G912S probably damaging Het
Efhb A T 17: 53,706,091 (GRCm39) N815K probably benign Het
Eml6 T A 11: 29,735,748 (GRCm39) L1139F probably damaging Het
Eprs1 T G 1: 185,103,087 (GRCm39) I78S probably damaging Het
Fat1 C A 8: 45,403,718 (GRCm39) S156R probably damaging Het
Firrm T C 1: 163,799,412 (GRCm39) probably null Het
Frzb G A 2: 80,277,163 (GRCm39) R8W possibly damaging Het
Guf1 T A 5: 69,715,596 (GRCm39) D47E probably damaging Het
Haus3 A T 5: 34,325,078 (GRCm39) F194I probably damaging Het
Hnf1b A G 11: 83,779,920 (GRCm39) T392A probably damaging Het
Hsd17b1 C A 11: 100,970,981 (GRCm39) C312* probably null Het
Ighg2b T C 12: 113,270,699 (GRCm39) T144A unknown Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Irag2 G T 6: 145,090,702 (GRCm39) E61* probably null Het
Jhy T C 9: 40,828,887 (GRCm39) R340G probably damaging Het
Klra3 C G 6: 130,307,216 (GRCm39) V144L probably benign Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Lrrc4 A G 6: 28,830,905 (GRCm39) F237L possibly damaging Het
Lyst T A 13: 13,856,070 (GRCm39) C2464S probably benign Het
Maml1 T C 11: 50,157,509 (GRCm39) E222G probably damaging Het
Med15 C T 16: 17,489,447 (GRCm39) probably benign Het
Naalad2 T C 9: 18,296,444 (GRCm39) I69V probably null Het
Neb T C 2: 52,181,220 (GRCm39) K1129R probably damaging Het
Nsun6 A T 2: 15,041,113 (GRCm39) N159K probably benign Het
Nup153 A T 13: 46,840,541 (GRCm39) N1022K probably benign Het
Or1e29 T C 11: 73,667,296 (GRCm39) N286D probably damaging Het
Or5g9 A G 2: 85,552,675 (GRCm39) K309E probably benign Het
Or5w15 C T 2: 87,567,753 (GRCm39) R305K probably benign Het
Otof T A 5: 30,528,141 (GRCm39) K1901* probably null Het
Pde1c A T 6: 56,158,685 (GRCm39) Y136N probably damaging Het
Phc1 G T 6: 122,302,733 (GRCm39) N263K probably damaging Het
Plxna1 A T 6: 89,296,430 (GRCm39) D1871E probably damaging Het
Prdm6 T A 18: 53,669,751 (GRCm39) M123K possibly damaging Het
Ranbp17 T C 11: 33,425,066 (GRCm39) D430G probably damaging Het
Rsl24d1 C A 9: 73,022,279 (GRCm39) T287K probably damaging Het
Scn1a G A 2: 66,168,304 (GRCm39) R101W probably damaging Het
Scn8a A G 15: 100,937,977 (GRCm39) D1741G probably damaging Het
Serpinb1c T C 13: 33,080,924 (GRCm39) Q53R probably benign Het
Serpinf2 C T 11: 75,323,269 (GRCm39) R479H probably damaging Het
Sis T A 3: 72,856,860 (GRCm39) D448V probably damaging Het
Slc27a6 T A 18: 58,712,947 (GRCm39) D256E probably benign Het
Slc30a8 A G 15: 52,194,970 (GRCm39) Y243C possibly damaging Het
Slc35f5 T C 1: 125,490,347 (GRCm39) V103A probably damaging Het
Slc44a2 T C 9: 21,232,149 (GRCm39) probably null Het
Slc7a9 T C 7: 35,159,274 (GRCm39) L327P probably damaging Het
Stat4 A G 1: 52,142,133 (GRCm39) Y660C probably damaging Het
Terb1 T C 8: 105,199,388 (GRCm39) T519A possibly damaging Het
Tonsl A T 15: 76,513,500 (GRCm39) S1245T probably damaging Het
Ttn A T 2: 76,619,162 (GRCm39) S16072R probably damaging Het
Ttn A T 2: 76,739,590 (GRCm39) Y3650N probably benign Het
Uso1 T C 5: 92,314,444 (GRCm39) F117S probably damaging Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r67 G A 7: 84,802,023 (GRCm39) P93S probably damaging Het
Xirp2 A T 2: 67,346,569 (GRCm39) I2937F possibly damaging Het
Zc2hc1c C A 12: 85,336,446 (GRCm39) probably null Het
Zfp12 T C 5: 143,230,219 (GRCm39) V182A probably benign Het
Zfp473 G T 7: 44,382,218 (GRCm39) A705D possibly damaging Het
Zfp937 G T 2: 150,081,136 (GRCm39) G389C probably damaging Het
Zfp990 A G 4: 145,264,748 (GRCm39) D582G 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
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'- TTGCAGCCACTGACACTTG -3'
(R):5'- CATGAATGCTGGTGTCAGAGG -3'

Sequencing Primer
(F):5'- AGCCACTGACACTTGAGGGG -3'
(R):5'- AGATGTGGACCGAGGCCTC -3'
Posted On 2018-07-24