Incidental Mutation 'R6042:Hivep3'
ID 483603
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 044210-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6042 (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 G at 119955061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 1126 (Q1126E)
Ref Sequence ENSEMBL: ENSMUSP00000130249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106307] [ENSMUST00000166542] [ENSMUST00000226560]
AlphaFold A2A884
Predicted Effect possibly damaging
Transcript: ENSMUST00000106307
AA Change: Q1126E

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: Q1126E

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 possibly damaging
Transcript: ENSMUST00000166542
AA Change: Q1126E

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: Q1126E

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: 97.9%
  • 20x: 93.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,224,023 (GRCm39) K478M probably benign Het
Ankar G T 1: 72,713,213 (GRCm39) S474* probably null Het
Barx2 C A 9: 31,758,199 (GRCm39) E246D probably benign Het
Cdh20 A T 1: 110,065,997 (GRCm39) Q757L probably damaging Het
Cnr1 T C 4: 33,944,751 (GRCm39) F380L probably damaging Het
Cntnap5b G A 1: 100,318,317 (GRCm39) A655T probably benign Het
Col2a1 T A 15: 97,898,451 (GRCm39) probably benign Het
Crybg3 C T 16: 59,370,838 (GRCm39) R2340Q possibly damaging Het
Ctsb G T 14: 63,379,305 (GRCm39) D306Y probably damaging Het
Cyp2a22 A C 7: 26,633,664 (GRCm39) Y349D probably damaging Het
Dcpp2 T C 17: 24,117,886 (GRCm39) L22S probably damaging Het
Dnah8 G T 17: 30,966,239 (GRCm39) M2476I probably damaging Het
Dst A G 1: 34,228,053 (GRCm39) E1882G probably damaging Het
Esrp1 T C 4: 11,357,580 (GRCm39) K511E possibly damaging Het
Fat3 T A 9: 16,289,113 (GRCm39) T137S probably benign Het
Fbxw24 T A 9: 109,436,079 (GRCm39) M318L probably benign Het
Fpr-rs7 T A 17: 20,333,477 (GRCm39) T338S probably benign Het
Gcgr T C 11: 120,425,584 (GRCm39) M1T probably null Het
Grifin C A 5: 140,549,311 (GRCm39) R135L possibly damaging Het
Helz T C 11: 107,504,946 (GRCm39) probably null Het
Htr3a T A 9: 48,815,999 (GRCm39) H146L probably damaging Het
Lama3 T A 18: 12,707,311 (GRCm39) V3081E probably damaging Het
Mgat5 T A 1: 127,387,636 (GRCm39) C531S probably damaging Het
Mical2 A G 7: 111,979,619 (GRCm39) D106G probably benign Het
Nectin2 C T 7: 19,472,063 (GRCm39) A109T probably benign Het
Olig3 T C 10: 19,232,503 (GRCm39) S43P probably damaging Het
Or5an9 A T 19: 12,187,286 (GRCm39) M119L probably damaging Het
Or8b39 T A 9: 37,996,390 (GRCm39) V86E probably damaging Het
Pcdh12 T C 18: 38,414,558 (GRCm39) R856G probably damaging Het
Phpt1 T A 2: 25,464,851 (GRCm39) M1L probably benign Het
Polr2m T C 9: 71,391,080 (GRCm39) I41V probably damaging Het
Pramel28 G T 4: 143,692,631 (GRCm39) D123E probably benign Het
Pzp A G 6: 128,500,977 (GRCm39) V127A possibly damaging Het
Rgs7 G T 1: 174,977,226 (GRCm39) T126K probably damaging Het
RP23-399J5.1 T C 8: 71,542,571 (GRCm39) noncoding transcript Het
Rras A T 7: 44,669,820 (GRCm39) D112V probably damaging Het
Sdcbp2 T A 2: 151,424,646 (GRCm39) Y5* probably null Het
Slc43a2 T C 11: 75,461,433 (GRCm39) F462L probably damaging Het
Smchd1 T A 17: 71,684,052 (GRCm39) K1436* probably null Het
Snrnp27 A C 6: 86,659,902 (GRCm39) S31A unknown Het
Sqstm1 A C 11: 50,098,251 (GRCm39) F172V probably benign Het
Stk32b T A 5: 37,806,458 (GRCm39) I29F probably damaging Het
Syt10 G A 15: 89,725,824 (GRCm39) T50I probably benign Het
Syt16 T C 12: 74,313,504 (GRCm39) Y477H probably damaging Het
Tacr3 A T 3: 134,638,153 (GRCm39) T437S probably benign Het
Tg G A 15: 66,555,842 (GRCm39) D845N probably benign Het
Uqcc1 G T 2: 155,763,564 (GRCm39) S36R possibly damaging Het
Vmn1r20 T C 6: 57,409,391 (GRCm39) V239A possibly damaging Het
Xpo7 T A 14: 70,933,103 (GRCm39) Q263L possibly damaging Het
Zfp442 T C 2: 150,250,016 (GRCm39) K572E probably damaging Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R 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
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'- AGATCTCTGTGGGCACTACG -3'
(R):5'- TGCAGTGCAAACTGGGATTG -3'

Sequencing Primer
(F):5'- TCTGTGGGCACTACGCAAGG -3'
(R):5'- ATATCTGCAGCGTGAGGC -3'
Posted On 2017-07-14