Incidental Mutation 'R6919:Hivep1'
ID 539526
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 045039-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.511) question?
Stock # R6919 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 42205304-42338504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42336928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 2336 (I2336V)
Ref Sequence ENSEMBL: ENSMUSP00000056147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060148]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000060148
AA Change: I2336V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: I2336V

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: ENSMUST00000220801
Predicted Effect probably benign
Transcript: ENSMUST00000222854
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (84/85)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,356 (GRCm39) probably benign Het
6430548M08Rik T C 8: 120,872,221 (GRCm39) S50P probably damaging Het
Aacs A G 5: 125,583,227 (GRCm39) D261G probably benign Het
Abcc4 T A 14: 118,832,306 (GRCm39) T775S probably benign Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Agbl5 T A 5: 31,062,061 (GRCm39) F196I probably benign Het
Ahnak2 T C 12: 112,741,118 (GRCm39) T985A possibly damaging Het
Ak1 A T 2: 32,521,134 (GRCm39) D101V possibly damaging Het
Alx1 A G 10: 102,861,061 (GRCm39) Y156H probably damaging Het
Angptl7 T A 4: 148,584,488 (GRCm39) S87C probably benign Het
Ankrd36 A G 11: 5,579,299 (GRCm39) T188A probably benign Het
Arhgap11a A C 2: 113,670,054 (GRCm39) S356R possibly damaging Het
Ascc3 G T 10: 50,521,849 (GRCm39) E455* probably null Het
Atp6v0a2 G A 5: 124,789,225 (GRCm39) probably null Het
B3gnt7 T C 1: 86,233,416 (GRCm39) W104R probably damaging Het
Bbs9 G A 9: 22,723,840 (GRCm39) probably null Het
Cc2d2a T A 5: 43,860,557 (GRCm39) D544E probably benign Het
Cic C T 7: 24,971,202 (GRCm39) T311I probably benign Het
Cngb1 T A 8: 95,975,003 (GRCm39) R1157W probably null Het
Cntln A G 4: 85,033,605 (GRCm39) H1310R probably benign Het
Cntnap5c A T 17: 58,600,948 (GRCm39) I764F probably benign Het
Col26a1 T C 5: 136,773,088 (GRCm39) Q362R possibly damaging Het
Cyp2c29 G A 19: 39,279,585 (GRCm39) R100K probably benign Het
D17H6S53E C G 17: 35,346,222 (GRCm39) D44E probably damaging Het
Dap3 A G 3: 88,838,296 (GRCm39) V65A probably damaging Het
Dna2 A T 10: 62,792,782 (GRCm39) I266F probably damaging Het
Dnah14 G A 1: 181,412,631 (GRCm39) G57E probably benign Het
Dock9 A T 14: 121,880,564 (GRCm39) V333E probably benign Het
Dpm1 A G 2: 168,072,195 (GRCm39) Y27H probably damaging Het
Dsp A T 13: 38,351,631 (GRCm39) Y150F possibly damaging Het
Emilin3 A T 2: 160,750,018 (GRCm39) I577N probably damaging Het
Erap1 A G 13: 74,819,552 (GRCm39) T189A probably benign Het
Fat2 A G 11: 55,173,597 (GRCm39) I2372T possibly damaging Het
Fbn2 A T 18: 58,257,259 (GRCm39) probably null Het
Gnl1 A T 17: 36,298,425 (GRCm39) R390* probably null Het
Il17rb C G 14: 29,726,228 (GRCm39) probably null Het
Itga9 T C 9: 118,716,883 (GRCm39) W396R probably damaging Het
Katnal2 A G 18: 77,098,734 (GRCm39) V152A probably benign Het
Kcnk3 A G 5: 30,779,744 (GRCm39) T265A probably benign Het
Klhl1 T C 14: 96,374,030 (GRCm39) Y672C probably benign Het
Leng8 C A 7: 4,146,625 (GRCm39) N412K possibly damaging Het
Lrrc9 T A 12: 72,553,167 (GRCm39) F1356L probably benign Het
Map7 A G 10: 20,046,828 (GRCm39) probably benign Het
Mei1 T C 15: 81,966,131 (GRCm39) F251S probably damaging Het
Mia2 A G 12: 59,176,681 (GRCm39) E9G possibly damaging Het
Ms4a13 C A 19: 11,149,249 (GRCm39) W182C probably benign Het
Muc16 C T 9: 18,571,595 (GRCm39) R308K unknown Het
Or4c103 G A 2: 88,514,028 (GRCm39) T16I possibly damaging Het
Or8g22 A G 9: 38,958,827 (GRCm39) probably benign Het
Pcnt A G 10: 76,221,632 (GRCm39) V1998A probably benign Het
Pgm2 A T 5: 64,254,368 (GRCm39) N51I probably benign Het
Piezo1 T A 8: 123,217,020 (GRCm39) H1333L probably damaging Het
Prg2 G A 2: 84,813,600 (GRCm39) V199M probably damaging Het
Prss51 T C 14: 64,334,937 (GRCm39) V182A probably damaging Het
Psmb9 A T 17: 34,402,199 (GRCm39) Y132* probably null Het
Ralyl T C 3: 13,842,091 (GRCm39) Y76H probably damaging Het
Rnaset2a A T 17: 8,349,114 (GRCm39) D174E probably benign Het
Rnft1 G A 11: 86,386,156 (GRCm39) probably null Het
Robo2 T C 16: 73,758,755 (GRCm39) Y676C probably damaging Het
Samd9l T G 6: 3,376,313 (GRCm39) Y316S possibly damaging Het
Siah3 T A 14: 75,693,578 (GRCm39) F28Y possibly damaging Het
Slc28a3 C T 13: 58,721,257 (GRCm39) probably null Het
Slc8a1 A G 17: 81,696,301 (GRCm39) F911S probably damaging Het
Spata31e2 T C 1: 26,722,015 (GRCm39) Y1055C probably benign Het
Speg T A 1: 75,364,552 (GRCm39) L156* probably null Het
Spopl T G 2: 23,407,873 (GRCm39) M269L probably benign Het
Tacr1 C T 6: 82,534,054 (GRCm39) T360I probably benign Het
Tasor T A 14: 27,171,758 (GRCm39) L397* probably null Het
Tmem262 A G 19: 6,130,767 (GRCm39) E95G probably benign Het
Tmem68 G T 4: 3,569,669 (GRCm39) T7N possibly damaging Het
Top3a T A 11: 60,640,319 (GRCm39) I460F probably damaging Het
Trafd1 G A 5: 121,522,137 (GRCm39) R5* probably null Het
Trim16 T A 11: 62,731,695 (GRCm39) V435D possibly damaging Het
Tspan17 A G 13: 54,943,846 (GRCm39) D236G probably damaging Het
Tssk2 A T 16: 17,717,565 (GRCm39) M323L probably benign Het
Ubqln5 A G 7: 103,778,215 (GRCm39) V203A probably benign Het
Utrn A T 10: 12,569,214 (GRCm39) L1134* probably null Het
Vmn1r37 C T 6: 66,708,704 (GRCm39) S73F possibly damaging Het
Vps13c A G 9: 67,834,734 (GRCm39) K1688E probably damaging Het
Zbtb39 A G 10: 127,577,711 (GRCm39) D95G probably damaging Het
Zfhx3 T A 8: 109,527,160 (GRCm39) I1019N probably damaging Het
Zfp207 C T 11: 80,286,329 (GRCm39) probably benign Het
Zmiz1 C T 14: 25,644,062 (GRCm39) T169M 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
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
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'- GCAAATTTTGTAGCAAGCTGAC -3'
(R):5'- GATGGTCAGTTGCATTGGCC -3'

Sequencing Primer
(F):5'- TTGTAGCAAGCTGACAAATGTC -3'
(R):5'- CCGGCCTGTATGGGTACAAAAG -3'
Posted On 2018-11-06