Incidental Mutation 'R6150:Hivep3'
ID 489177
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 044297-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6150 (G1)
Quality Score 83.0292
Status Validated
Chromosome 4
Chromosomal Location 119590982-119992608 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 119591274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 94 (S94*)
Ref Sequence ENSEMBL: ENSMUSP00000081330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084306]
AlphaFold A2A884
Predicted Effect probably null
Transcript: ENSMUST00000084306
AA Change: S94*
SMART Domains Protein: ENSMUSP00000081330
Gene: ENSMUSG00000028634
AA Change: S94*

DomainStartEndE-ValueType
low complexity region 49 75 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144907
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (56/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,104,334 (GRCm39) T74A probably benign Het
Arhgef1 T C 7: 24,618,782 (GRCm39) probably null Het
Art1 C G 7: 101,756,294 (GRCm39) R162G probably benign Het
Boll T A 1: 55,309,812 (GRCm39) I280F possibly damaging Het
Cep44 T C 8: 56,992,840 (GRCm39) E258G probably benign Het
Cutc T A 19: 43,748,328 (GRCm39) V75E probably damaging Het
Dtx1 T C 5: 120,819,428 (GRCm39) K590R probably damaging Het
Eps8 A T 6: 137,494,172 (GRCm39) D295E probably damaging Het
Erc2 C A 14: 27,863,248 (GRCm39) S491Y probably damaging Het
F2rl3 G T 8: 73,489,366 (GRCm39) A198S probably benign Het
Fam83b G A 9: 76,399,639 (GRCm39) T488M probably damaging Het
Fitm2 A G 2: 163,311,994 (GRCm39) L73P probably damaging Het
Fxyd1 T C 7: 30,754,228 (GRCm39) probably null Het
Gm17186 T C 14: 51,918,183 (GRCm39) noncoding transcript Het
Ifna1 T A 4: 88,768,349 (GRCm39) M9K probably null Het
Igsf11 G A 16: 38,843,711 (GRCm39) E275K probably damaging Het
Itga1 G A 13: 115,104,769 (GRCm39) L1086F probably benign Het
Itgav T C 2: 83,606,780 (GRCm39) S374P probably benign Het
Jmy A T 13: 93,577,641 (GRCm39) N842K probably benign Het
Kcnh6 G A 11: 105,911,557 (GRCm39) V595M possibly damaging Het
Kif13b T A 14: 64,989,088 (GRCm39) I823N probably damaging Het
Kif26b T C 1: 178,743,111 (GRCm39) L1069P probably damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Kmt2b G T 7: 30,287,902 (GRCm39) probably benign Het
Map10 G A 8: 126,398,328 (GRCm39) D574N probably damaging Het
Mau2 A T 8: 70,472,487 (GRCm39) H565Q probably benign Het
Myb A G 10: 21,017,668 (GRCm39) I641T probably damaging Het
Naaladl2 C A 3: 24,606,214 (GRCm39) G15V probably null Het
Or10k2 G A 8: 84,267,782 (GRCm39) C3Y probably benign Het
Or3a4 A C 11: 73,945,145 (GRCm39) S147A probably benign Het
Or6c210 A G 10: 129,495,803 (GRCm39) I43V probably benign Het
Or7d11 A T 9: 19,966,170 (GRCm39) N78K probably benign Het
Otog A G 7: 45,913,483 (GRCm39) E772G possibly damaging Het
Pla2g4d T C 2: 120,100,045 (GRCm39) D674G probably damaging Het
Pmpcb A G 5: 21,942,137 (GRCm39) probably null Het
Pomk A G 8: 26,473,284 (GRCm39) V223A possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Serpina1e A G 12: 103,917,066 (GRCm39) V201A probably benign Het
Six5 C T 7: 18,831,446 (GRCm39) P646S probably benign Het
Slc17a9 A G 2: 180,379,421 (GRCm39) I298V probably benign Het
Slc37a2 G T 9: 37,149,643 (GRCm39) T188K probably damaging Het
Slc6a11 T A 6: 114,222,579 (GRCm39) F525I probably benign Het
Slit2 A T 5: 48,461,516 (GRCm39) D1504V probably damaging Het
Srcap T A 7: 127,134,000 (GRCm39) M907K probably damaging Het
Sspo T C 6: 48,463,313 (GRCm39) L3746P probably benign Het
Supv3l1 A T 10: 62,271,501 (GRCm39) N376K possibly damaging Het
Tekt3 A T 11: 62,985,483 (GRCm39) T430S possibly damaging Het
Tex2 A T 11: 106,457,906 (GRCm39) V508D probably benign Het
Tmem184c G T 8: 78,323,069 (GRCm39) Q598K probably benign Het
Ube2v1 G A 2: 167,459,874 (GRCm39) R42* probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vangl1 T C 3: 102,091,835 (GRCm39) T84A probably damaging Het
Vgll3 T A 16: 65,625,064 (GRCm39) probably null Het
Vmn1r61 T A 7: 5,613,678 (GRCm39) H212L probably benign Het
Vmn2r114 A G 17: 23,510,269 (GRCm39) V737A probably benign Het
Vmn2r35 A T 7: 7,789,555 (GRCm39) D727E probably damaging Het
Vps18 T A 2: 119,128,073 (GRCm39) Y965* probably null Het
Zfp521 A T 18: 13,977,135 (GRCm39) C1093S probably damaging Het
Zfp971 A C 2: 177,675,247 (GRCm39) H282P 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
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'- TCTCCCAGGCCAATCGAAAG -3'
(R):5'- ATTAACTAATCAGGCCCTGGCAAG -3'

Sequencing Primer
(F):5'- TGTGGACTGAGCTTGACCC -3'
(R):5'- TGTCCACAATAAATTACGAGGAAG -3'
Posted On 2017-10-10