Incidental Mutation 'R1186:Hivep3'
ID 102100
Institutional Source Beutler Lab
Gene Symbol Hivep3
Ensembl Gene ENSMUSG00000028634
Gene Name human immunodeficiency virus type I enhancer binding protein 3
Synonyms E030045D18Rik, Schnurri-3, Shn3, 2900056N03Rik, Krc
MMRRC Submission 039258-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1186 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 119733784-120138045 bp(+) (GRCm38)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 119814723 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106307]
AlphaFold A2A884
Predicted Effect probably benign
Transcript: ENSMUST00000106307
SMART Domains Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634

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 noncoding transcript
Transcript: ENSMUST00000123698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144907
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 97% (69/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik G A 10: 21,621,652 (GRCm38) R64Q probably benign Het
9530068E07Rik G A 11: 52,403,078 (GRCm38) V49I probably benign Het
A2m T C 6: 121,661,534 (GRCm38) S902P probably benign Het
Aatf A T 11: 84,470,549 (GRCm38) probably benign Het
Adamtsl1 A G 4: 86,388,509 (GRCm38) T1395A probably benign Het
Alpk2 T C 18: 65,294,341 (GRCm38) probably null Het
Ank3 G T 10: 69,867,460 (GRCm38) A308S probably damaging Het
Arap1 A G 7: 101,404,269 (GRCm38) probably benign Het
Bltp1 T C 3: 36,996,312 (GRCm38) probably benign Het
C4b T C 17: 34,736,309 (GRCm38) D769G possibly damaging Het
Cep350 A G 1: 155,875,376 (GRCm38) S2017P probably damaging Het
Cfap54 T A 10: 92,875,994 (GRCm38) I2704F unknown Het
Crip2 G A 12: 113,144,959 (GRCm38) probably benign Het
Cyp4f14 T C 17: 32,916,786 (GRCm38) I34V probably benign Het
Dcstamp A G 15: 39,754,629 (GRCm38) probably null Het
Ddx5 T C 11: 106,783,979 (GRCm38) probably null Het
Dnah2 A T 11: 69,515,700 (GRCm38) L572Q probably damaging Het
Espl1 G A 15: 102,304,039 (GRCm38) A527T probably benign Het
Fam83d A G 2: 158,785,174 (GRCm38) D261G probably damaging Het
Fbxo34 T C 14: 47,530,586 (GRCm38) F468L probably damaging Het
Gabarapl1 A T 6: 129,533,405 (GRCm38) probably benign Het
Galnt17 G T 5: 131,111,742 (GRCm38) T179K probably damaging Het
Gm6899 C T 11: 26,593,685 (GRCm38) probably benign Het
Helz2 T A 2: 181,231,128 (GRCm38) R2433W probably damaging Het
Hsh2d G A 8: 72,200,460 (GRCm38) D229N probably benign Het
Ica1 A G 6: 8,672,326 (GRCm38) L225P probably damaging Het
Inpp5f T C 7: 128,694,583 (GRCm38) I195T probably benign Het
Isyna1 C A 8: 70,595,201 (GRCm38) N115K probably benign Het
Ly6g6e T C 17: 35,078,008 (GRCm38) F75S probably benign Het
Ly96 A G 1: 16,700,894 (GRCm38) D101G possibly damaging Het
Mapk9 A G 11: 49,878,269 (GRCm38) T243A probably damaging Het
Mcc A G 18: 44,759,403 (GRCm38) V48A probably benign Het
Mcpt2 C T 14: 56,043,945 (GRCm38) probably benign Het
Med24 T C 11: 98,717,757 (GRCm38) probably benign Het
Mtbp G A 15: 55,564,671 (GRCm38) G162S probably null Het
Mtfr2 G A 10: 20,352,852 (GRCm38) C48Y probably benign Het
Naip2 AGGG AGG 13: 100,162,037 (GRCm38) probably null Het
Naip2 C T 13: 100,161,981 (GRCm38) A516T possibly damaging Het
Ncoa4-ps A C 12: 119,261,471 (GRCm38) noncoding transcript Het
Nup107 A C 10: 117,777,146 (GRCm38) Y292* probably null Het
Nwd2 C T 5: 63,650,024 (GRCm38) probably benign Het
Nxpe4 A C 9: 48,393,392 (GRCm38) N260H probably benign Het
Ofcc1 C T 13: 40,208,829 (GRCm38) G206R probably benign Het
Olfr911-ps1 T C 9: 38,524,157 (GRCm38) S142P probably damaging Het
Or6z7 T C 7: 6,480,542 (GRCm38) I205V probably benign Het
Or8b42 T C 9: 38,431,101 (GRCm38) V273A possibly damaging Het
Or8k37 A T 2: 86,639,463 (GRCm38) L82M probably damaging Het
P2rx7 T C 5: 122,670,451 (GRCm38) Y299H probably damaging Het
Per3 T A 4: 151,026,138 (GRCm38) E401V probably damaging Het
Rbm34 C A 8: 126,965,447 (GRCm38) E182* probably null Het
Sdk2 C T 11: 113,838,646 (GRCm38) silent Het
Senp2 T C 16: 22,011,504 (GRCm38) S38P probably damaging Het
Slc36a2 A T 11: 55,164,231 (GRCm38) probably null Het
Spred1 A T 2: 117,177,697 (GRCm38) R361S possibly damaging Het
Spry2 A G 14: 105,892,907 (GRCm38) C282R probably damaging Het
Srp54b T C 12: 55,255,528 (GRCm38) probably benign Het
Taar8c G C 10: 24,101,565 (GRCm38) Y116* probably null Het
Tchh C G 3: 93,448,046 (GRCm38) R1598G unknown Het
Tex15 A G 8: 33,571,633 (GRCm38) M364V probably benign Het
Ttbk1 T C 17: 46,467,131 (GRCm38) R662G probably damaging Het
Ttc5 G A 14: 50,767,226 (GRCm38) Q374* probably null Het
Usp46 C T 5: 74,002,122 (GRCm38) A312T probably benign Het
Vmn1r176 A T 7: 23,835,626 (GRCm38) L34Q probably damaging Het
Vmn1r178 A T 7: 23,893,892 (GRCm38) R122* probably null Het
Vmn2r6 T A 3: 64,565,067 (GRCm38) M78L probably benign Het
Zfp407 A T 18: 84,209,448 (GRCm38) I2012N probably benign Het
Zfp980 G A 4: 145,702,083 (GRCm38) G461S probably benign Het
Zfyve26 G A 12: 79,263,949 (GRCm38) L161F probably damaging Het
Other mutations in Hivep3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Hivep3 APN 4 120,098,374 (GRCm38) missense probably damaging 1.00
IGL01017:Hivep3 APN 4 120,099,246 (GRCm38) missense probably damaging 0.98
IGL01837:Hivep3 APN 4 120,094,562 (GRCm38) missense possibly damaging 0.72
IGL01878:Hivep3 APN 4 120,095,227 (GRCm38) missense possibly damaging 0.84
IGL02134:Hivep3 APN 4 120,133,574 (GRCm38) splice site probably benign
IGL02183:Hivep3 APN 4 120,132,024 (GRCm38) missense probably benign 0.04
IGL02350:Hivep3 APN 4 120,123,025 (GRCm38) missense probably damaging 1.00
IGL02451:Hivep3 APN 4 120,133,965 (GRCm38) missense probably damaging 1.00
IGL02567:Hivep3 APN 4 120,133,956 (GRCm38) missense probably damaging 0.99
IGL02617:Hivep3 APN 4 120,095,444 (GRCm38) missense probably benign 0.04
IGL02725:Hivep3 APN 4 120,095,822 (GRCm38) missense possibly damaging 0.48
IGL02828:Hivep3 APN 4 120,097,732 (GRCm38) nonsense probably null
IGL02954:Hivep3 APN 4 120,133,641 (GRCm38) missense probably damaging 1.00
IGL02966:Hivep3 APN 4 120,132,186 (GRCm38) missense probably benign 0.04
Branchial UTSW 4 120,096,575 (GRCm38) missense possibly damaging 0.92
Deceit UTSW 4 120,097,911 (GRCm38) frame shift probably null
Mandible UTSW 4 120,097,121 (GRCm38) missense probably damaging 0.99
Sclerotic UTSW 4 120,095,099 (GRCm38) missense possibly damaging 0.82
Stealth UTSW 4 120,122,876 (GRCm38) nonsense probably null
Yellowjacket UTSW 4 120,132,357 (GRCm38) missense probably benign 0.01
PIT4260001:Hivep3 UTSW 4 120,099,182 (GRCm38) missense probably damaging 1.00
R0321:Hivep3 UTSW 4 120,095,591 (GRCm38) missense possibly damaging 0.84
R0336:Hivep3 UTSW 4 120,103,847 (GRCm38) missense probably damaging 1.00
R0558:Hivep3 UTSW 4 120,096,566 (GRCm38) missense probably damaging 0.98
R0562:Hivep3 UTSW 4 120,096,554 (GRCm38) missense probably benign 0.00
R0637:Hivep3 UTSW 4 120,132,541 (GRCm38) nonsense probably null
R0645:Hivep3 UTSW 4 120,097,334 (GRCm38) missense possibly damaging 0.95
R1254:Hivep3 UTSW 4 120,099,293 (GRCm38) missense probably damaging 1.00
R1428:Hivep3 UTSW 4 120,096,575 (GRCm38) missense possibly damaging 0.92
R1623:Hivep3 UTSW 4 120,095,704 (GRCm38) missense possibly damaging 0.84
R1739:Hivep3 UTSW 4 120,095,174 (GRCm38) missense probably benign 0.03
R1766:Hivep3 UTSW 4 120,096,671 (GRCm38) missense probably benign
R1769:Hivep3 UTSW 4 120,097,571 (GRCm38) missense possibly damaging 0.68
R1773:Hivep3 UTSW 4 120,098,837 (GRCm38) missense probably damaging 1.00
R1968:Hivep3 UTSW 4 120,096,238 (GRCm38) missense possibly damaging 0.83
R2220:Hivep3 UTSW 4 119,734,038 (GRCm38) missense possibly damaging 0.92
R2428:Hivep3 UTSW 4 120,098,508 (GRCm38) nonsense probably null
R3789:Hivep3 UTSW 4 120,098,416 (GRCm38) missense probably damaging 1.00
R3917:Hivep3 UTSW 4 120,099,427 (GRCm38) missense probably benign 0.27
R4366:Hivep3 UTSW 4 120,096,089 (GRCm38) missense possibly damaging 0.84
R4436:Hivep3 UTSW 4 120,095,923 (GRCm38) missense probably benign 0.11
R4504:Hivep3 UTSW 4 119,733,793 (GRCm38) unclassified probably benign
R4705:Hivep3 UTSW 4 119,872,050 (GRCm38) intron probably benign
R4713:Hivep3 UTSW 4 120,131,803 (GRCm38) missense probably damaging 1.00
R4756:Hivep3 UTSW 4 120,097,823 (GRCm38) missense probably damaging 0.98
R4887:Hivep3 UTSW 4 120,122,934 (GRCm38) missense probably damaging 1.00
R4888:Hivep3 UTSW 4 120,122,934 (GRCm38) missense probably damaging 1.00
R5008:Hivep3 UTSW 4 120,098,917 (GRCm38) missense probably benign 0.22
R5204:Hivep3 UTSW 4 120,103,856 (GRCm38) critical splice donor site probably null
R5594:Hivep3 UTSW 4 120,123,048 (GRCm38) critical splice donor site probably null
R5697:Hivep3 UTSW 4 120,096,955 (GRCm38) missense possibly damaging 0.68
R5715:Hivep3 UTSW 4 120,096,373 (GRCm38) missense probably benign
R5740:Hivep3 UTSW 4 120,096,023 (GRCm38) missense possibly damaging 0.83
R5760:Hivep3 UTSW 4 120,095,011 (GRCm38) missense possibly damaging 0.83
R5923:Hivep3 UTSW 4 120,096,293 (GRCm38) missense possibly damaging 0.92
R5927:Hivep3 UTSW 4 120,097,108 (GRCm38) missense possibly damaging 0.68
R6042:Hivep3 UTSW 4 120,097,864 (GRCm38) missense possibly damaging 0.85
R6074:Hivep3 UTSW 4 120,097,694 (GRCm38) missense possibly damaging 0.68
R6150:Hivep3 UTSW 4 119,734,077 (GRCm38) nonsense probably null
R6211:Hivep3 UTSW 4 120,098,405 (GRCm38) missense probably damaging 1.00
R6251:Hivep3 UTSW 4 120,094,940 (GRCm38) missense probably damaging 0.98
R6451:Hivep3 UTSW 4 120,098,908 (GRCm38) missense probably benign 0.22
R6531:Hivep3 UTSW 4 120,122,876 (GRCm38) nonsense probably null
R6651:Hivep3 UTSW 4 120,122,949 (GRCm38) missense probably damaging 1.00
R6701:Hivep3 UTSW 4 120,094,540 (GRCm38) missense probably damaging 0.97
R6721:Hivep3 UTSW 4 120,095,099 (GRCm38) missense possibly damaging 0.82
R6796:Hivep3 UTSW 4 120,096,361 (GRCm38) missense possibly damaging 0.68
R6864:Hivep3 UTSW 4 120,094,888 (GRCm38) missense possibly damaging 0.48
R6902:Hivep3 UTSW 4 120,095,995 (GRCm38) missense possibly damaging 0.48
R7111:Hivep3 UTSW 4 120,095,234 (GRCm38) missense possibly damaging 0.68
R7113:Hivep3 UTSW 4 120,098,369 (GRCm38) missense probably damaging 1.00
R7140:Hivep3 UTSW 4 120,097,121 (GRCm38) missense probably damaging 0.99
R7189:Hivep3 UTSW 4 120,132,219 (GRCm38) missense probably damaging 0.99
R7218:Hivep3 UTSW 4 120,095,452 (GRCm38) missense possibly damaging 0.92
R7366:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7368:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7491:Hivep3 UTSW 4 120,098,830 (GRCm38) missense probably benign 0.09
R7496:Hivep3 UTSW 4 120,132,402 (GRCm38) missense probably benign 0.00
R7514:Hivep3 UTSW 4 120,096,855 (GRCm38) missense possibly damaging 0.48
R7604:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7605:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7607:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7610:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7611:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7613:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7626:Hivep3 UTSW 4 120,097,911 (GRCm38) frame shift probably null
R7707:Hivep3 UTSW 4 119,733,959 (GRCm38) missense
R7736:Hivep3 UTSW 4 120,095,543 (GRCm38) missense possibly damaging 0.92
R7915:Hivep3 UTSW 4 120,097,765 (GRCm38) missense possibly damaging 0.83
R7943:Hivep3 UTSW 4 120,132,357 (GRCm38) missense probably benign 0.01
R7972:Hivep3 UTSW 4 120,097,514 (GRCm38) missense possibly damaging 0.48
R8093:Hivep3 UTSW 4 120,095,435 (GRCm38) missense possibly damaging 0.68
R8111:Hivep3 UTSW 4 120,098,386 (GRCm38) missense probably damaging 0.99
R8215:Hivep3 UTSW 4 120,122,901 (GRCm38) missense probably damaging 1.00
R8364:Hivep3 UTSW 4 120,099,442 (GRCm38) missense probably benign 0.10
R8467:Hivep3 UTSW 4 120,095,041 (GRCm38) missense probably damaging 0.98
R8768:Hivep3 UTSW 4 120,132,324 (GRCm38) missense probably damaging 0.99
R8890:Hivep3 UTSW 4 120,096,460 (GRCm38) missense possibly damaging 0.95
R8902:Hivep3 UTSW 4 120,096,740 (GRCm38) missense possibly damaging 0.83
R9022:Hivep3 UTSW 4 120,098,107 (GRCm38) missense probably benign 0.09
R9336:Hivep3 UTSW 4 120,095,203 (GRCm38) missense possibly damaging 0.84
R9606:Hivep3 UTSW 4 120,132,589 (GRCm38) missense probably damaging 0.98
RF019:Hivep3 UTSW 4 120,098,270 (GRCm38) missense probably benign 0.12
X0062:Hivep3 UTSW 4 120,098,698 (GRCm38) missense probably damaging 1.00
X0067:Hivep3 UTSW 4 120,131,787 (GRCm38) missense probably damaging 0.96
Z1176:Hivep3 UTSW 4 120,133,782 (GRCm38) missense probably damaging 1.00
Z1177:Hivep3 UTSW 4 120,131,778 (GRCm38) nonsense probably null
Z1177:Hivep3 UTSW 4 120,095,946 (GRCm38) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TCCGTGTTTCCAGCAGGAATTCAAG -3'
(R):5'- AATCCCAGCACTGTGGCACTTC -3'

Sequencing Primer
(F):5'- GAATTCAAGAGGGATGCTTCTG -3'
(R):5'- GTGGCACTTCCCGGTGG -3'
Posted On 2014-01-15