Incidental Mutation 'R8768:Hivep3'
ID 664213
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 068623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8768 (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 119989521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1991 (S1991P)
Ref Sequence ENSEMBL: ENSMUSP00000101914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106307] [ENSMUST00000166542]
AlphaFold A2A884
Predicted Effect probably damaging
Transcript: ENSMUST00000106307
AA Change: S1991P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: S1991P

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: S1991P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: S1991P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (76/77)
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
Actr1b A T 1: 36,740,588 (GRCm39) C222S probably benign Het
Actrt3 T G 3: 30,651,992 (GRCm39) R367S probably damaging Het
Alg1 T C 16: 5,060,416 (GRCm39) V379A probably damaging Het
Ankrd36 A G 11: 5,593,763 (GRCm39) E456G probably benign Het
Arhgef33 G T 17: 80,681,148 (GRCm39) A763S possibly damaging Het
Armc5 T G 7: 127,841,783 (GRCm39) V597G probably benign Het
Asb10 G T 5: 24,738,690 (GRCm39) R456S probably damaging Het
Asph A G 4: 9,453,417 (GRCm39) F702L probably damaging Het
Atf7 T A 15: 102,449,324 (GRCm39) T326S probably benign Het
Atxn7l2 T C 3: 108,114,250 (GRCm39) N171D probably benign Het
BC049715 T A 6: 136,816,979 (GRCm39) M73K possibly damaging Het
C2cd6 A G 1: 59,105,312 (GRCm39) V322A probably benign Het
Cadps2 A C 6: 23,382,938 (GRCm39) C807W probably damaging Het
Ccdc57 C T 11: 120,788,788 (GRCm39) R353H probably benign Het
Ccdc89 T C 7: 90,075,793 (GRCm39) M1T probably null Het
Cntn1 G A 15: 92,132,347 (GRCm39) V148M probably damaging Het
Csmd3 T A 15: 47,561,572 (GRCm39) I1335F Het
Dap3 A G 3: 88,834,334 (GRCm39) M294T probably damaging Het
Dbh A G 2: 27,060,328 (GRCm39) D168G probably benign Het
Dchs2 C A 3: 83,253,592 (GRCm39) A2334E probably benign Het
Dcun1d4 T A 5: 73,678,310 (GRCm39) Y102N probably benign Het
Dhtkd1 T C 2: 5,903,533 (GRCm39) T918A probably benign Het
Dmgdh C T 13: 93,825,118 (GRCm39) T147I possibly damaging Het
Dmxl2 T G 9: 54,301,105 (GRCm39) K2335N possibly damaging Het
Efna5 T C 17: 63,188,125 (GRCm39) M1V probably null Het
Fpr-rs3 T C 17: 20,844,944 (GRCm39) N66D probably damaging Het
Gas2l2 C A 11: 83,313,999 (GRCm39) A438S probably benign Het
Hsp90b1 A T 10: 86,541,169 (GRCm39) probably null Het
Iars1 T A 13: 49,878,102 (GRCm39) N875K probably damaging Het
Jag1 A C 2: 136,943,521 (GRCm39) M225R possibly damaging Het
Jag1 T C 2: 136,932,708 (GRCm39) probably benign Het
Kcnn2 C T 18: 45,692,502 (GRCm39) S26L possibly damaging Het
Kctd2 T C 11: 115,311,279 (GRCm39) S96P probably damaging Het
Klhl25 A G 7: 75,516,359 (GRCm39) N422D probably damaging Het
Lhx8 A T 3: 154,027,886 (GRCm39) V222E possibly damaging Het
Lrig1 A T 6: 94,631,840 (GRCm39) V120D possibly damaging Het
Manba T A 3: 135,256,995 (GRCm39) S553T probably damaging Het
Mllt10 T A 2: 18,167,583 (GRCm39) S503T probably damaging Het
Nxpe4 A G 9: 48,304,050 (GRCm39) N46D probably benign Het
Or1l4b C T 2: 37,037,016 (GRCm39) S264L probably benign Het
Or8b50 A C 9: 38,518,441 (GRCm39) K227Q probably benign Het
Pdzd2 C T 15: 12,437,252 (GRCm39) E450K probably damaging Het
Phrf1 T A 7: 140,838,651 (GRCm39) F615L unknown Het
Plch2 C A 4: 155,083,324 (GRCm39) G538V probably damaging Het
Ppp2r2d T A 7: 138,475,897 (GRCm39) I235N probably damaging Het
Prdm15 A T 16: 97,638,888 (GRCm39) D57E probably benign Het
Psd3 T C 8: 68,417,003 (GRCm39) D45G probably damaging Het
Ptger4 T A 15: 5,272,138 (GRCm39) R185S probably benign Het
Ptp4a2 T A 4: 129,740,299 (GRCm39) M121K probably damaging Het
Ptpre T G 7: 135,283,306 (GRCm39) F659V possibly damaging Het
Rad54l2 T G 9: 106,596,809 (GRCm39) D199A probably benign Het
Rap1gds1 T C 3: 138,647,521 (GRCm39) M556V probably benign Het
Scaf8 T C 17: 3,243,349 (GRCm39) V711A probably benign Het
Sesn3 G A 9: 14,225,964 (GRCm39) C233Y probably damaging Het
Slc45a1 T A 4: 150,714,206 (GRCm39) I680F probably damaging Het
Slco1a6 C T 6: 142,078,897 (GRCm39) V133M probably benign Het
Syt6 T C 3: 103,492,850 (GRCm39) L119P probably benign Het
Szt2 A C 4: 118,226,613 (GRCm39) S2974R unknown Het
Taok1 A T 11: 77,444,712 (GRCm39) H454Q probably damaging Het
Tbx10 G A 19: 4,047,303 (GRCm39) V136M probably damaging Het
Tespa1 A G 10: 130,198,027 (GRCm39) T350A probably benign Het
Tnks1bp1 T A 2: 84,900,980 (GRCm39) Y1562* probably null Het
Trank1 T A 9: 111,218,344 (GRCm39) F1908Y probably benign Het
Trav6d-4 A T 14: 52,991,243 (GRCm39) H96L possibly damaging Het
Tspoap1 T C 11: 87,669,197 (GRCm39) I1490T probably benign Het
Ttc21a T C 9: 119,770,286 (GRCm39) F119S probably damaging Het
Ttll3 T G 6: 113,385,949 (GRCm39) M594R probably damaging Het
Ttn T A 2: 76,798,790 (GRCm39) R495* probably null Het
Twf1 A C 15: 94,479,110 (GRCm39) L250V probably damaging Het
Ubr4 A T 4: 139,149,076 (GRCm39) E458D Het
Unc50 T C 1: 37,476,244 (GRCm39) F135L probably benign Het
Vwa3a T A 7: 120,375,299 (GRCm39) I371N probably damaging Het
Zfp180 T C 7: 23,805,161 (GRCm39) S527P probably damaging Het
Zfp512 T A 5: 31,630,882 (GRCm39) I408N probably damaging Het
Zfp57 A G 17: 37,317,077 (GRCm39) T52A probably benign Het
Zranb2 A G 3: 157,247,327 (GRCm39) 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
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'- TGGTCCCCAAGCAAAGAAGC -3'
(R):5'- TGCACGTTTCAGGGCTTCTG -3'

Sequencing Primer
(F):5'- CCCAAGCAAAGAAGCAGGCAG -3'
(R):5'- AAGCCCAGGCCACTCTTGTC -3'
Posted On 2021-03-08