Incidental Mutation 'R7490:Hivep1'
ID 580701
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 045564-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.511) question?
Stock # R7490 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 42205304-42338504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42311126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1122 (V1122D)
Ref Sequence ENSEMBL: ENSMUSP00000056147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060148] [ENSMUST00000220525]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000060148
AA Change: V1122D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: V1122D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,202,389 (GRCm39) D132G possibly damaging Het
Abca5 T C 11: 110,168,437 (GRCm39) E1424G possibly damaging Het
Adamts4 C T 1: 171,084,169 (GRCm39) Q549* probably null Het
Adcy4 A G 14: 56,007,890 (GRCm39) I893T possibly damaging Het
Ago1 A T 4: 126,333,298 (GRCm39) *858R probably null Het
Ank2 T A 3: 126,752,538 (GRCm39) I393L probably damaging Het
Ankrd44 T C 1: 54,687,459 (GRCm39) T987A probably benign Het
Ap2a1 G T 7: 44,552,213 (GRCm39) N790K probably benign Het
Aqr A G 2: 113,989,349 (GRCm39) probably null Het
Arel1 G T 12: 84,988,685 (GRCm39) F21L probably damaging Het
Atp1a3 T C 7: 24,686,895 (GRCm39) D743G probably damaging Het
Atp9a A T 2: 168,517,272 (GRCm39) F354I probably benign Het
Bag6 A G 17: 35,359,818 (GRCm39) H259R unknown Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTT TGGTTCTGTGGTCACGGGTT 3: 95,795,498 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTG GTCACTGGTTCTGTGTTCACTGGTTCTGTG 3: 95,795,478 (GRCm39) probably benign Het
Bckdk T A 7: 127,504,145 (GRCm39) S15T unknown Het
C4b G T 17: 34,950,054 (GRCm39) Y1405* probably null Het
Camk4 G A 18: 33,072,598 (GRCm39) probably null Het
Car11 T A 7: 45,349,742 (GRCm39) W16R probably benign Het
Ccdc80 A C 16: 44,916,763 (GRCm39) E506D probably damaging Het
Chmp6 C T 11: 119,806,269 (GRCm39) Q32* probably null Het
Colq G A 14: 31,267,043 (GRCm39) P166S possibly damaging Het
Ctxn3 T C 18: 57,610,357 (GRCm39) M58T probably damaging Het
Cxcl3 A T 5: 90,934,516 (GRCm39) I93L unknown Het
Dnaaf2 T C 12: 69,244,380 (GRCm39) Y227C probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dnmt3a G A 12: 3,954,204 (GRCm39) G792D probably damaging Het
Dsg4 T A 18: 20,584,993 (GRCm39) probably null Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Fbxl13 T A 5: 21,728,058 (GRCm39) R550* probably null Het
Gm4302 A T 10: 100,177,445 (GRCm39) Q243L unknown Het
Gm7168 A T 17: 14,169,275 (GRCm39) Y214F probably benign Het
Gtf3c1 C T 7: 125,246,663 (GRCm39) D1549N probably damaging Het
Gtf3c5 A T 2: 28,461,153 (GRCm39) D320E probably damaging Het
Ibtk T C 9: 85,600,987 (GRCm39) probably null Het
Irs1 T A 1: 82,264,985 (GRCm39) Q1077L probably damaging Het
Ivd A T 2: 118,707,373 (GRCm39) M296L possibly damaging Het
Katnal1 T C 5: 148,828,492 (GRCm39) D318G probably null Het
L3mbtl3 C T 10: 26,215,129 (GRCm39) V194I unknown Het
Malt1 C A 18: 65,581,282 (GRCm39) Q237K probably benign Het
Marchf11 C T 15: 26,311,187 (GRCm39) A221V possibly damaging Het
Nfe2l3 A G 6: 51,434,524 (GRCm39) I361M possibly damaging Het
Nrg1 G A 8: 32,308,682 (GRCm39) R493C probably damaging Het
Oga G A 19: 45,755,886 (GRCm39) R586* probably null Het
Or10g9b T A 9: 39,917,720 (GRCm39) H175L probably damaging Het
Or2f1 T C 6: 42,721,739 (GRCm39) I256T probably damaging Het
Or4c107 A C 2: 88,789,392 (GRCm39) Y194S probably benign Het
Or51g2 G A 7: 102,623,017 (GRCm39) P61S probably damaging Het
Or5ar1 A T 2: 85,671,307 (GRCm39) V276E probably damaging Het
Or7g16 A T 9: 18,727,229 (GRCm39) Y120* probably null Het
Orai3 C T 7: 127,372,799 (GRCm39) A100V possibly damaging Het
Oxsm T A 14: 16,241,066 (GRCm38) M328L probably benign Het
Pan2 T C 10: 128,144,309 (GRCm39) V186A probably benign Het
Pkd1l1 T A 11: 8,866,265 (GRCm39) D980V Het
Ppp1r16b T C 2: 158,603,388 (GRCm39) Y438H probably damaging Het
Ppp4c A T 7: 126,386,504 (GRCm39) H164Q probably damaging Het
Prl8a2 C A 13: 27,536,753 (GRCm39) T125K possibly damaging Het
Rasa2 T C 9: 96,448,175 (GRCm39) N494S possibly damaging Het
Rpl18a T C 8: 71,348,150 (GRCm39) D147G probably benign Het
Scg3 T C 9: 75,576,559 (GRCm39) D272G possibly damaging Het
Serpinb6c T A 13: 34,077,818 (GRCm39) D184V probably benign Het
Simc1 T G 13: 54,672,162 (GRCm39) L170R possibly damaging Het
Slx4 T C 16: 3,797,995 (GRCm39) E1463G possibly damaging Het
Stk31 T A 6: 49,416,166 (GRCm39) probably null Het
Tas1r3 A G 4: 155,946,480 (GRCm39) I375T probably damaging Het
Tbc1d24 T C 17: 24,401,494 (GRCm39) D405G probably damaging Het
Tcerg1l G A 7: 137,861,557 (GRCm39) P391S probably damaging Het
Tiam1 T C 16: 89,695,083 (GRCm39) S125G probably benign Het
Trim16 C A 11: 62,724,949 (GRCm39) H246N probably damaging Het
Tti1 T A 2: 157,837,392 (GRCm39) N896I probably damaging Het
Ubash3a A G 17: 31,451,286 (GRCm39) N395S probably damaging Het
Uggt1 T C 1: 36,203,589 (GRCm39) I1014V probably benign Het
Vmn1r30 T A 6: 58,412,214 (GRCm39) Q206L possibly damaging Het
Washc5 T A 15: 59,209,053 (GRCm39) N1057I probably benign Het
Xpo4 GGTATTAGCGGAGT GGT 14: 57,840,078 (GRCm39) probably null Het
Zcchc14 A T 8: 122,331,756 (GRCm39) S536T unknown 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
R5009:Hivep1 UTSW 13 42,312,229 (GRCm39) missense probably benign 0.06
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
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'- AGAAAGCGCTGATGCCCTTC -3'
(R):5'- ACAGTGCTGTCTGATGCATGG -3'

Sequencing Primer
(F):5'- TGATGCCCTTCAGCTGCAG -3'
(R):5'- GCATGGCATCCTGAGGTG -3'
Posted On 2019-10-17