Incidental Mutation 'R4756:Hivep3'
ID 358002
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 041972-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4756 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 119590982-119992608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119955020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 1112 (P1112H)
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: P1112H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: P1112H

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: P1112H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: P1112H

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Acss2 T C 2: 155,403,063 (GRCm39) F627L probably damaging Het
Akap8 A G 17: 32,535,184 (GRCm39) S277P probably damaging Het
Akap9 T A 5: 4,051,418 (GRCm39) M1395K probably damaging Het
Ank1 A G 8: 23,612,893 (GRCm39) D1468G probably benign Het
Apoe A G 7: 19,430,846 (GRCm39) V121A probably benign Het
Aqp9 A T 9: 71,070,331 (GRCm39) L12H probably damaging Het
Atp2b4 G A 1: 133,639,529 (GRCm39) A1115V probably benign Het
Atp2b4 G A 1: 133,667,134 (GRCm39) P139L probably benign Het
B430218F22Rik T C 13: 118,523,980 (GRCm39) probably benign Het
Bltp2 T A 11: 78,154,854 (GRCm39) L122H probably damaging Het
Brsk1 A G 7: 4,711,866 (GRCm39) E572G possibly damaging Het
C6 T C 15: 4,811,394 (GRCm39) I414T probably benign Het
C8b T A 4: 104,644,083 (GRCm39) M250K probably benign Het
Camk1g T A 1: 193,044,393 (GRCm39) E7V probably benign Het
Clcc1 A G 3: 108,580,236 (GRCm39) probably null Het
Col4a3 G T 1: 82,694,018 (GRCm39) probably null Het
Cox5b T A 1: 36,732,310 (GRCm39) W104R probably damaging Het
Cyp2c55 A C 19: 39,019,815 (GRCm39) H251P probably damaging Het
Cyp2c67 G A 19: 39,632,188 (GRCm39) T60I probably benign Het
Defb42 T A 14: 63,285,824 (GRCm39) V68E probably benign Het
Ercc4 T A 16: 12,941,287 (GRCm39) I225N probably damaging Het
Fam120b G T 17: 15,622,658 (GRCm39) C212F probably damaging Het
Fgf10 T C 13: 118,918,045 (GRCm39) V111A probably benign Het
Fn1 G T 1: 71,629,967 (GRCm39) T2186K probably damaging Het
Fras1 T C 5: 96,929,518 (GRCm39) V3974A probably benign Het
Galnt4 T C 10: 98,944,362 (GRCm39) V29A probably benign Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Heatr9 A T 11: 83,407,475 (GRCm39) L236Q probably damaging Het
Hnf4g A G 3: 3,708,069 (GRCm39) Y106C possibly damaging Het
Hnrnpdl A T 5: 100,185,783 (GRCm39) Y69* probably null Het
Itgb1 G A 8: 129,443,703 (GRCm39) A320T probably damaging Het
Kcna2 T C 3: 107,012,733 (GRCm39) I438T probably benign Het
Kif24 A G 4: 41,397,545 (GRCm39) probably null Het
Klhl1 G A 14: 96,389,402 (GRCm39) T584I probably benign Het
Ltbp1 A G 17: 75,532,199 (GRCm39) D91G probably damaging Het
Mdga2 T C 12: 66,844,427 (GRCm39) I190M probably damaging Het
Meis2 G A 2: 115,830,686 (GRCm39) R276C probably damaging Het
Mob4 C T 1: 55,191,855 (GRCm39) R190W probably damaging Het
Mrgpra2a A G 7: 47,077,114 (GRCm39) I48T possibly damaging Het
Mst1 T C 9: 107,960,826 (GRCm39) V481A probably benign Het
Mttp A T 3: 137,821,832 (GRCm39) V245E possibly damaging Het
Nbn T A 4: 15,981,470 (GRCm39) S521T probably benign Het
Neb G T 2: 52,083,243 (GRCm39) T5654N probably damaging Het
Nlrp9a A T 7: 26,256,866 (GRCm39) K161N probably damaging Het
Nod2 T G 8: 89,390,902 (GRCm39) F388C possibly damaging Het
Or3a1 G T 11: 74,225,402 (GRCm39) F218L probably benign Het
Or4a75 G T 2: 89,447,814 (GRCm39) H241N possibly damaging Het
Or4f58 A G 2: 111,851,332 (GRCm39) F289S possibly damaging Het
Or52e2 A T 7: 102,804,332 (GRCm39) N207K probably benign Het
Or7a38 T A 10: 78,753,361 (GRCm39) I229N probably damaging Het
Or7g25 G A 9: 19,160,153 (GRCm39) L181F possibly damaging Het
P2ry1 A G 3: 60,911,898 (GRCm39) S346G probably benign Het
Polr1f T A 12: 33,487,679 (GRCm39) probably null Het
Prkcd A G 14: 30,321,623 (GRCm39) F524L probably benign Het
Qrfprl T C 6: 65,429,898 (GRCm39) I198T probably benign Het
Ramp3 A T 11: 6,624,843 (GRCm39) M46L probably benign Het
Rint1 T C 5: 24,014,791 (GRCm39) Y278H probably damaging Het
Skint11 C T 4: 114,051,874 (GRCm39) T74I probably benign Het
Slc10a7 T C 8: 79,433,579 (GRCm39) probably null Het
Slc45a2 T A 15: 11,028,016 (GRCm39) Y528* probably null Het
Slit1 A G 19: 41,637,452 (GRCm39) F329L probably damaging Het
Sltm A T 9: 70,498,892 (GRCm39) M989L possibly damaging Het
Smad9 A T 3: 54,701,874 (GRCm39) T372S possibly damaging Het
Snrpc T A 17: 28,061,306 (GRCm39) Y38* probably null Het
Spag17 A G 3: 100,010,701 (GRCm39) K2065R possibly damaging Het
Stxbp4 T A 11: 90,498,197 (GRCm39) K87N probably damaging Het
Tbc1d23 AT ATT 16: 57,019,258 (GRCm39) probably null Het
Tgfb1i1 A T 7: 127,848,571 (GRCm39) M96L probably damaging Het
Tnc T A 4: 63,885,580 (GRCm39) I1841F probably damaging Het
Ubap2 G T 4: 41,211,771 (GRCm39) H63Q probably damaging Het
Vps13a T C 19: 16,632,580 (GRCm39) N2592S probably benign Het
Xdh G A 17: 74,193,381 (GRCm39) P1305L probably benign Het
Xrn1 G A 9: 95,921,862 (GRCm39) R1425K probably benign Het
Zfp418 G A 7: 7,185,762 (GRCm39) R575Q possibly damaging Het
Zfp608 T A 18: 55,027,544 (GRCm39) Q1424H probably damaging Het
Zfp839 C A 12: 110,821,635 (GRCm39) L150I 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
R4705:Hivep3 UTSW 4 119,729,247 (GRCm39) intron probably benign
R4713:Hivep3 UTSW 4 119,989,000 (GRCm39) missense probably damaging 1.00
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'- TGCTTTCTGGTACGTCAGGC -3'
(R):5'- AAGGGGATATCTGCAGCGTG -3'

Sequencing Primer
(F):5'- GCTGTGCCCAAGGGAAAAC -3'
(R):5'- CTGGGGTGTAGCACAGTAGGC -3'
Posted On 2015-11-11