Incidental Mutation 'R1438:Hivep1'
ID 160801
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 039493-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.511) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 42205304-42338504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42311596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1279 (T1279A)
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: T1279A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: T1279A

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 0.0584 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging 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
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
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'- ACTTGTCCGGCAGCACAACATC -3'
(R):5'- TCCATCAGTGTAGGCACGCAAC -3'

Sequencing Primer
(F):5'- ACATCCAGGTCCCAGAAATTC -3'
(R):5'- TGTAGGCACGCAACTGATCTG -3'
Posted On 2014-03-14