Incidental Mutation 'R5009:Hivep1'
ID 390385
Institutional Source Beutler Lab
Gene Symbol Hivep1
Ensembl Gene ENSMUSG00000021366
Gene Name human immunodeficiency virus type I enhancer binding protein 1
Synonyms Cryabp1, alphaA-CRYBP1
MMRRC Submission 042600-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.511) question?
Stock # R5009 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 42205304-42338504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42312229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 1490 (F1490I)
Ref Sequence ENSEMBL: ENSMUSP00000056147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060148] [ENSMUST00000220525]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000060148
AA Change: F1490I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: F1490I

DomainStartEndE-ValueType
coiled coil region 10 36 N/A INTRINSIC
low complexity region 177 194 N/A INTRINSIC
low complexity region 355 371 N/A INTRINSIC
low complexity region 376 388 N/A INTRINSIC
ZnF_C2H2 407 429 4.79e-3 SMART
ZnF_C2H2 435 457 1.95e-3 SMART
low complexity region 488 504 N/A INTRINSIC
low complexity region 595 609 N/A INTRINSIC
low complexity region 844 854 N/A INTRINSIC
ZnF_C2H2 953 980 1.53e2 SMART
low complexity region 1253 1271 N/A INTRINSIC
low complexity region 1275 1307 N/A INTRINSIC
low complexity region 1585 1608 N/A INTRINSIC
low complexity region 1902 1912 N/A INTRINSIC
ZnF_C2H2 2074 2096 2.24e-3 SMART
ZnF_C2H2 2102 2126 1.5e-4 SMART
low complexity region 2164 2183 N/A INTRINSIC
low complexity region 2299 2313 N/A INTRINSIC
low complexity region 2345 2365 N/A INTRINSIC
low complexity region 2517 2527 N/A INTRINSIC
low complexity region 2580 2594 N/A INTRINSIC
low complexity region 2629 2642 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222491
Meta Mutation Damage Score 0.0848 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (91/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,487,426 (GRCm39) probably benign Het
Aim2 T C 1: 173,282,932 (GRCm39) Y5H probably damaging Het
Atosa G A 9: 74,916,171 (GRCm39) E257K probably damaging Het
Atp7b A G 8: 22,517,714 (GRCm39) S375P possibly damaging Het
BC106179 C A 16: 23,043,192 (GRCm39) probably benign Het
Brinp3 T A 1: 146,776,787 (GRCm39) N411K probably benign Het
Cacna1d A G 14: 29,801,289 (GRCm39) V1386A probably damaging Het
Cuzd1 T A 7: 130,913,252 (GRCm39) Y455F probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dip2b T A 15: 100,093,665 (GRCm39) probably null Het
Dot1l G T 10: 80,607,030 (GRCm39) R108L probably benign Het
Dysf T C 6: 84,128,968 (GRCm39) S1413P probably damaging Het
Eea1 C A 10: 95,846,883 (GRCm39) R388S probably benign Het
Elavl1 C T 8: 4,351,723 (GRCm39) R131Q probably benign Het
Erich6b A G 14: 75,902,596 (GRCm39) T138A possibly damaging Het
Esr1 C T 10: 4,662,394 (GRCm39) T4I probably damaging Het
Ets1 T C 9: 32,644,295 (GRCm39) S152P possibly damaging Het
Fcsk C T 8: 111,614,462 (GRCm39) C609Y probably damaging Het
Flrt2 T C 12: 95,746,547 (GRCm39) V295A probably damaging Het
Gm13196 A G 2: 4,705,149 (GRCm39) noncoding transcript Het
Gm5965 T A 16: 88,575,312 (GRCm39) Y162N probably benign Het
Gm7853 A T 14: 35,811,466 (GRCm39) noncoding transcript Het
Gm8126 C T 14: 43,119,065 (GRCm39) A178V probably benign Het
Gpihbp1 A T 15: 75,469,570 (GRCm39) probably benign Het
Greb1 T C 12: 16,774,858 (GRCm39) T180A possibly damaging Het
Gsdme C T 6: 50,222,992 (GRCm39) V108M possibly damaging Het
Gtpbp4 T C 13: 9,039,102 (GRCm39) Y157C probably benign Het
Gvin3 A G 7: 106,200,767 (GRCm39) noncoding transcript Het
Il17ra T C 6: 120,459,168 (GRCm39) V773A probably benign Het
Kctd8 T A 5: 69,268,076 (GRCm39) T345S probably benign Het
Kdm3b T C 18: 34,957,763 (GRCm39) S1243P probably benign Het
Klhdc1 T C 12: 69,298,712 (GRCm39) V99A possibly damaging Het
Lars1 T G 18: 42,354,612 (GRCm39) E778D probably benign Het
Map7 C T 10: 20,137,664 (GRCm39) R279* probably null Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Mtbp A G 15: 55,466,583 (GRCm39) D532G probably benign Het
Mylk G A 16: 34,719,877 (GRCm39) V597I probably benign Het
Necab1 A G 4: 14,947,503 (GRCm39) probably benign Het
Nisch C T 14: 30,909,186 (GRCm39) probably benign Het
Nlrp1a T C 11: 71,013,531 (GRCm39) D573G probably benign Het
Noct C A 3: 51,155,482 (GRCm39) N83K probably damaging Het
Or10am5 A G 7: 6,517,546 (GRCm39) L294P probably damaging Het
Or1b1 C T 2: 36,995,467 (GRCm39) R65H possibly damaging Het
Or2a12 C A 6: 42,904,367 (GRCm39) D67E probably damaging Het
Or2ad1 T C 13: 21,326,435 (GRCm39) N264S probably benign Het
Or52n4b A G 7: 108,144,055 (GRCm39) I106V probably benign Het
Or6b13 C T 7: 139,781,751 (GRCm39) A311T probably benign Het
Or6c201 T C 10: 128,969,484 (GRCm39) H51R probably benign Het
Osgepl1 T A 1: 53,357,339 (GRCm39) V167D probably damaging Het
Pabpc6 T C 17: 9,887,489 (GRCm39) E354G probably damaging Het
Pgghg A C 7: 140,523,303 (GRCm39) D194A probably benign Het
Podnl1 A T 8: 84,852,887 (GRCm39) H19L probably benign Het
Pold1 G T 7: 44,183,326 (GRCm39) A977E probably benign Het
Poldip3 T C 15: 83,017,395 (GRCm39) T227A probably damaging Het
Prss43 A G 9: 110,656,489 (GRCm39) S59G possibly damaging Het
Ptpn14 T A 1: 189,582,731 (GRCm39) I526N probably benign Het
Ptprb T C 10: 116,184,032 (GRCm39) S1615P possibly damaging Het
Ptpro A G 6: 137,354,130 (GRCm39) K169E probably damaging Het
Rab15 T C 12: 76,847,341 (GRCm39) E114G probably damaging Het
Rcvrn A G 11: 67,586,550 (GRCm39) E103G probably benign Het
Repin1 T A 6: 48,571,779 (GRCm39) probably benign Het
Rita1 T A 5: 120,749,448 (GRCm39) K88N probably damaging Het
Rtkn2 T C 10: 67,877,239 (GRCm39) V433A probably benign Het
Runx1t1 T C 4: 13,865,231 (GRCm39) I314T possibly damaging Het
Serpinb9c A C 13: 33,338,414 (GRCm39) S190A probably benign Het
Shank2 C A 7: 143,623,916 (GRCm39) H300Q probably benign Het
Slc4a4 A G 5: 89,297,157 (GRCm39) probably null Het
Slc5a8 T C 10: 88,745,516 (GRCm39) S375P probably benign Het
Spns3 C A 11: 72,428,027 (GRCm39) W251L probably damaging Het
Spta1 A G 1: 174,067,789 (GRCm39) N2072S possibly damaging Het
Sptbn1 A G 11: 30,074,016 (GRCm39) V1351A probably benign Het
Sytl2 A T 7: 90,030,523 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,706,478 (GRCm39) probably benign Het
Tg A G 15: 66,568,435 (GRCm39) D1374G probably benign Het
Tlr1 A G 5: 65,083,567 (GRCm39) S337P probably damaging Het
Trp63 A T 16: 25,686,977 (GRCm39) D303V probably damaging Het
Ttn G A 2: 76,683,250 (GRCm39) probably benign Het
Txndc5 T C 13: 38,712,160 (GRCm39) probably null Het
Vmn2r77 T G 7: 86,451,015 (GRCm39) D300E possibly damaging Het
Zfp729a A T 13: 67,768,365 (GRCm39) N621K probably benign Het
Other mutations in Hivep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Hivep1 APN 13 42,308,125 (GRCm39) missense probably benign 0.00
IGL00572:Hivep1 APN 13 42,312,347 (GRCm39) missense probably benign 0.00
IGL00820:Hivep1 APN 13 42,337,294 (GRCm39) missense probably benign 0.29
IGL00846:Hivep1 APN 13 42,321,092 (GRCm39) nonsense probably null
IGL01068:Hivep1 APN 13 42,313,460 (GRCm39) missense probably benign 0.00
IGL01431:Hivep1 APN 13 42,311,493 (GRCm39) missense probably damaging 0.96
IGL01664:Hivep1 APN 13 42,312,755 (GRCm39) missense probably benign 0.18
IGL01833:Hivep1 APN 13 42,308,464 (GRCm39) nonsense probably null
IGL02037:Hivep1 APN 13 42,309,553 (GRCm39) missense probably benign 0.00
IGL02375:Hivep1 APN 13 42,309,925 (GRCm39) missense probably benign 0.30
IGL02414:Hivep1 APN 13 42,308,385 (GRCm39) missense probably damaging 0.99
IGL02609:Hivep1 APN 13 42,309,130 (GRCm39) missense probably damaging 0.98
IGL02649:Hivep1 APN 13 42,310,787 (GRCm39) missense possibly damaging 0.69
IGL02654:Hivep1 APN 13 42,311,161 (GRCm39) missense probably damaging 0.97
IGL02977:Hivep1 APN 13 42,309,412 (GRCm39) missense possibly damaging 0.94
IGL03124:Hivep1 APN 13 42,312,380 (GRCm39) missense possibly damaging 0.66
IGL03050:Hivep1 UTSW 13 42,309,604 (GRCm39) missense probably benign 0.12
PIT4305001:Hivep1 UTSW 13 42,335,147 (GRCm39) missense
R0067:Hivep1 UTSW 13 42,312,132 (GRCm39) missense probably benign 0.00
R0067:Hivep1 UTSW 13 42,312,132 (GRCm39) missense probably benign 0.00
R0078:Hivep1 UTSW 13 42,309,517 (GRCm39) missense probably damaging 1.00
R0194:Hivep1 UTSW 13 42,308,911 (GRCm39) missense probably damaging 1.00
R0195:Hivep1 UTSW 13 42,309,629 (GRCm39) missense probably benign
R0245:Hivep1 UTSW 13 42,317,766 (GRCm39) missense possibly damaging 0.93
R0348:Hivep1 UTSW 13 42,311,855 (GRCm39) missense possibly damaging 0.65
R0654:Hivep1 UTSW 13 42,313,232 (GRCm39) missense probably benign 0.16
R0655:Hivep1 UTSW 13 42,321,061 (GRCm39) missense probably damaging 1.00
R0717:Hivep1 UTSW 13 42,308,422 (GRCm39) missense possibly damaging 0.46
R1013:Hivep1 UTSW 13 42,310,438 (GRCm39) missense probably damaging 1.00
R1216:Hivep1 UTSW 13 42,310,997 (GRCm39) missense probably benign 0.03
R1256:Hivep1 UTSW 13 42,335,307 (GRCm39) missense probably damaging 1.00
R1435:Hivep1 UTSW 13 42,311,519 (GRCm39) missense probably damaging 1.00
R1437:Hivep1 UTSW 13 42,310,616 (GRCm39) missense probably benign 0.03
R1438:Hivep1 UTSW 13 42,311,596 (GRCm39) missense probably benign 0.00
R1672:Hivep1 UTSW 13 42,313,760 (GRCm39) missense probably damaging 0.96
R1733:Hivep1 UTSW 13 42,311,407 (GRCm39) missense probably damaging 1.00
R1762:Hivep1 UTSW 13 42,337,262 (GRCm39) missense possibly damaging 0.80
R1786:Hivep1 UTSW 13 42,337,262 (GRCm39) missense possibly damaging 0.80
R1909:Hivep1 UTSW 13 42,309,122 (GRCm39) missense probably benign 0.38
R1993:Hivep1 UTSW 13 42,310,969 (GRCm39) missense probably benign 0.00
R2004:Hivep1 UTSW 13 42,313,625 (GRCm39) missense possibly damaging 0.47
R2061:Hivep1 UTSW 13 42,313,600 (GRCm39) missense possibly damaging 0.80
R2069:Hivep1 UTSW 13 42,337,262 (GRCm39) missense possibly damaging 0.80
R2075:Hivep1 UTSW 13 42,309,794 (GRCm39) missense probably damaging 0.98
R2076:Hivep1 UTSW 13 42,317,869 (GRCm39) critical splice donor site probably null
R2085:Hivep1 UTSW 13 42,337,226 (GRCm39) missense probably benign 0.34
R3701:Hivep1 UTSW 13 42,311,203 (GRCm39) missense probably benign 0.03
R3702:Hivep1 UTSW 13 42,311,203 (GRCm39) missense probably benign 0.03
R3716:Hivep1 UTSW 13 42,311,971 (GRCm39) missense probably damaging 1.00
R3718:Hivep1 UTSW 13 42,311,971 (GRCm39) missense probably damaging 1.00
R3719:Hivep1 UTSW 13 42,311,203 (GRCm39) missense probably benign 0.03
R3720:Hivep1 UTSW 13 42,312,077 (GRCm39) missense probably benign 0.01
R3820:Hivep1 UTSW 13 42,337,787 (GRCm39) missense possibly damaging 0.46
R3822:Hivep1 UTSW 13 42,337,787 (GRCm39) missense possibly damaging 0.46
R3842:Hivep1 UTSW 13 42,311,203 (GRCm39) missense probably benign 0.03
R4379:Hivep1 UTSW 13 42,308,906 (GRCm39) missense probably damaging 1.00
R4525:Hivep1 UTSW 13 42,309,289 (GRCm39) missense probably benign
R4587:Hivep1 UTSW 13 42,309,704 (GRCm39) missense probably benign 0.00
R4604:Hivep1 UTSW 13 42,313,225 (GRCm39) missense probably benign 0.08
R4686:Hivep1 UTSW 13 42,309,326 (GRCm39) missense probably benign 0.00
R4725:Hivep1 UTSW 13 42,316,887 (GRCm39) missense probably benign 0.19
R4924:Hivep1 UTSW 13 42,311,792 (GRCm39) missense probably benign 0.20
R5320:Hivep1 UTSW 13 42,313,115 (GRCm39) missense probably damaging 1.00
R5385:Hivep1 UTSW 13 42,317,871 (GRCm39) splice site probably null
R5498:Hivep1 UTSW 13 42,276,634 (GRCm39) critical splice acceptor site probably null
R5521:Hivep1 UTSW 13 42,311,804 (GRCm39) missense probably damaging 1.00
R5529:Hivep1 UTSW 13 42,310,126 (GRCm39) missense possibly damaging 0.81
R5584:Hivep1 UTSW 13 42,313,593 (GRCm39) missense probably benign
R5635:Hivep1 UTSW 13 42,313,603 (GRCm39) missense probably benign 0.16
R5636:Hivep1 UTSW 13 42,316,932 (GRCm39) missense possibly damaging 0.92
R5886:Hivep1 UTSW 13 42,310,088 (GRCm39) missense probably damaging 1.00
R5895:Hivep1 UTSW 13 42,310,694 (GRCm39) missense possibly damaging 0.95
R5981:Hivep1 UTSW 13 42,313,664 (GRCm39) missense probably damaging 1.00
R6012:Hivep1 UTSW 13 42,337,934 (GRCm39) missense possibly damaging 0.50
R6033:Hivep1 UTSW 13 42,310,583 (GRCm39) missense probably benign 0.20
R6033:Hivep1 UTSW 13 42,310,583 (GRCm39) missense probably benign 0.20
R6037:Hivep1 UTSW 13 42,311,416 (GRCm39) missense probably damaging 1.00
R6037:Hivep1 UTSW 13 42,311,416 (GRCm39) missense probably damaging 1.00
R6241:Hivep1 UTSW 13 42,311,846 (GRCm39) missense probably benign 0.01
R6247:Hivep1 UTSW 13 42,310,966 (GRCm39) missense probably benign
R6343:Hivep1 UTSW 13 42,313,147 (GRCm39) nonsense probably null
R6631:Hivep1 UTSW 13 42,309,956 (GRCm39) missense probably damaging 0.96
R6720:Hivep1 UTSW 13 42,317,760 (GRCm39) missense probably damaging 1.00
R6767:Hivep1 UTSW 13 42,308,203 (GRCm39) missense probably damaging 0.99
R6797:Hivep1 UTSW 13 42,310,557 (GRCm39) missense probably benign 0.00
R6800:Hivep1 UTSW 13 42,310,852 (GRCm39) missense probably damaging 1.00
R6854:Hivep1 UTSW 13 42,309,983 (GRCm39) missense probably damaging 1.00
R6919:Hivep1 UTSW 13 42,336,928 (GRCm39) missense probably benign 0.00
R6993:Hivep1 UTSW 13 42,312,190 (GRCm39) missense possibly damaging 0.94
R7104:Hivep1 UTSW 13 42,310,814 (GRCm39) missense probably benign 0.26
R7139:Hivep1 UTSW 13 42,313,430 (GRCm39) missense probably benign 0.28
R7186:Hivep1 UTSW 13 42,309,814 (GRCm39) missense probably benign 0.01
R7227:Hivep1 UTSW 13 42,310,387 (GRCm39) missense probably benign 0.02
R7263:Hivep1 UTSW 13 42,311,668 (GRCm39) missense possibly damaging 0.50
R7438:Hivep1 UTSW 13 42,308,387 (GRCm39) missense probably damaging 0.99
R7490:Hivep1 UTSW 13 42,311,126 (GRCm39) missense probably damaging 1.00
R7583:Hivep1 UTSW 13 42,317,716 (GRCm39) missense probably damaging 1.00
R7708:Hivep1 UTSW 13 42,317,753 (GRCm39) nonsense probably null
R7763:Hivep1 UTSW 13 42,312,937 (GRCm39) missense probably benign 0.12
R7840:Hivep1 UTSW 13 42,308,828 (GRCm39) missense probably benign
R7864:Hivep1 UTSW 13 42,312,290 (GRCm39) missense probably benign 0.02
R7913:Hivep1 UTSW 13 42,309,842 (GRCm39) missense probably benign 0.00
R7934:Hivep1 UTSW 13 42,308,174 (GRCm39) missense probably benign 0.17
R8017:Hivep1 UTSW 13 42,321,098 (GRCm39) missense
R8019:Hivep1 UTSW 13 42,321,098 (GRCm39) missense
R8312:Hivep1 UTSW 13 42,308,653 (GRCm39) missense possibly damaging 0.80
R8336:Hivep1 UTSW 13 42,309,405 (GRCm39) missense probably benign 0.00
R8415:Hivep1 UTSW 13 42,308,905 (GRCm39) missense probably benign 0.20
R8477:Hivep1 UTSW 13 42,337,696 (GRCm39) missense probably benign 0.00
R8868:Hivep1 UTSW 13 42,312,407 (GRCm39) missense possibly damaging 0.82
R9015:Hivep1 UTSW 13 42,311,849 (GRCm39) missense probably benign 0.34
R9185:Hivep1 UTSW 13 42,337,975 (GRCm39) missense possibly damaging 0.86
R9225:Hivep1 UTSW 13 42,337,184 (GRCm39) missense probably damaging 1.00
R9330:Hivep1 UTSW 13 42,317,713 (GRCm39) missense probably damaging 1.00
R9364:Hivep1 UTSW 13 42,308,251 (GRCm39) missense possibly damaging 0.63
R9377:Hivep1 UTSW 13 42,335,403 (GRCm39) missense probably benign 0.13
R9422:Hivep1 UTSW 13 42,313,213 (GRCm39) missense probably benign 0.06
R9451:Hivep1 UTSW 13 42,337,252 (GRCm39) missense probably benign 0.00
R9480:Hivep1 UTSW 13 42,337,058 (GRCm39) missense probably damaging 1.00
R9490:Hivep1 UTSW 13 42,311,518 (GRCm39) missense probably damaging 0.96
R9502:Hivep1 UTSW 13 42,322,779 (GRCm39) missense
R9554:Hivep1 UTSW 13 42,308,251 (GRCm39) missense possibly damaging 0.63
X0060:Hivep1 UTSW 13 42,308,461 (GRCm39) missense probably benign 0.07
X0067:Hivep1 UTSW 13 42,310,193 (GRCm39) missense probably damaging 0.98
Z1177:Hivep1 UTSW 13 42,313,457 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGATAGTCACCTCTCTCCTGGC -3'
(R):5'- AACCCTGGTCTGAAGTGAAG -3'

Sequencing Primer
(F):5'- TCTCTCCTGGCAGTGCAG -3'
(R):5'- CCTGACACTGAAGCTGGTACTTG -3'
Posted On 2016-06-06