Incidental Mutation 'R0657:Hivep2'
ID 62578
Institutional Source Beutler Lab
Gene Symbol Hivep2
Ensembl Gene ENSMUSG00000015501
Gene Name human immunodeficiency virus type I enhancer binding protein 2
Synonyms Gm20114, Shn-2, Schnurri-2, MIBP1
MMRRC Submission 038842-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R0657 (G1)
Quality Score 164
Status Validated
Chromosome 10
Chromosomal Location 13841819-14027118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14007622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1407 (S1407P)
Ref Sequence ENSEMBL: ENSMUSP00000140150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015645] [ENSMUST00000186989] [ENSMUST00000187083] [ENSMUST00000191138]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015645
AA Change: S1407P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: S1407P

DomainStartEndE-ValueType
low complexity region 177 188 N/A INTRINSIC
ZnF_C2H2 189 211 1.82e-3 SMART
ZnF_C2H2 217 239 7.26e-3 SMART
low complexity region 887 909 N/A INTRINSIC
low complexity region 922 937 N/A INTRINSIC
low complexity region 939 956 N/A INTRINSIC
low complexity region 958 974 N/A INTRINSIC
low complexity region 1499 1521 N/A INTRINSIC
low complexity region 1548 1569 N/A INTRINSIC
ZnF_C2H2 1783 1805 2.24e-3 SMART
ZnF_C2H2 1811 1835 1.98e-4 SMART
low complexity region 1853 1862 N/A INTRINSIC
low complexity region 1883 1910 N/A INTRINSIC
low complexity region 1943 1956 N/A INTRINSIC
low complexity region 2013 2038 N/A INTRINSIC
low complexity region 2090 2103 N/A INTRINSIC
low complexity region 2233 2241 N/A INTRINSIC
low complexity region 2271 2289 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186989
SMART Domains Protein: ENSMUSP00000140180
Gene: ENSMUSG00000015501

DomainStartEndE-ValueType
low complexity region 177 188 N/A INTRINSIC
ZnF_C2H2 189 211 7.9e-6 SMART
ZnF_C2H2 217 239 3.1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187083
AA Change: S1407P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: S1407P

DomainStartEndE-ValueType
low complexity region 177 188 N/A INTRINSIC
ZnF_C2H2 189 211 1.82e-3 SMART
ZnF_C2H2 217 239 7.26e-3 SMART
low complexity region 887 909 N/A INTRINSIC
low complexity region 922 937 N/A INTRINSIC
low complexity region 939 956 N/A INTRINSIC
low complexity region 958 974 N/A INTRINSIC
low complexity region 1499 1521 N/A INTRINSIC
low complexity region 1548 1569 N/A INTRINSIC
ZnF_C2H2 1783 1805 2.24e-3 SMART
ZnF_C2H2 1811 1835 1.98e-4 SMART
low complexity region 1853 1862 N/A INTRINSIC
low complexity region 1883 1910 N/A INTRINSIC
low complexity region 1943 1956 N/A INTRINSIC
low complexity region 2013 2038 N/A INTRINSIC
low complexity region 2090 2103 N/A INTRINSIC
low complexity region 2233 2241 N/A INTRINSIC
low complexity region 2271 2289 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191138
AA Change: S1407P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: S1407P

DomainStartEndE-ValueType
low complexity region 177 188 N/A INTRINSIC
ZnF_C2H2 189 211 1.82e-3 SMART
ZnF_C2H2 217 239 7.26e-3 SMART
low complexity region 887 909 N/A INTRINSIC
low complexity region 922 937 N/A INTRINSIC
low complexity region 939 956 N/A INTRINSIC
low complexity region 958 974 N/A INTRINSIC
low complexity region 1499 1521 N/A INTRINSIC
low complexity region 1548 1569 N/A INTRINSIC
ZnF_C2H2 1783 1805 2.24e-3 SMART
ZnF_C2H2 1811 1835 1.98e-4 SMART
low complexity region 1853 1862 N/A INTRINSIC
low complexity region 1883 1910 N/A INTRINSIC
low complexity region 1943 1956 N/A INTRINSIC
low complexity region 2013 2038 N/A INTRINSIC
low complexity region 2090 2103 N/A INTRINSIC
low complexity region 2233 2241 N/A INTRINSIC
low complexity region 2271 2289 N/A INTRINSIC
Meta Mutation Damage Score 0.0714 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display abnormal thymus anatomy, severely defective positive selection of CD4+ and CD8+ cells, and enhanced T-helper 2 cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
Aldh7a1 C T 18: 56,670,269 (GRCm39) probably benign Het
Bfsp1 A C 2: 143,669,570 (GRCm39) probably benign Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Chd7 T C 4: 8,753,141 (GRCm39) V546A probably damaging Het
Defb13 T C 8: 22,436,877 (GRCm39) probably benign Het
F13a1 A T 13: 37,152,079 (GRCm39) D237E probably damaging Het
F8 T C X: 74,255,022 (GRCm39) Q2124R possibly damaging Het
Hmgcs2 A G 3: 98,198,369 (GRCm39) T91A probably benign Het
Huwe1 T C X: 150,702,924 (GRCm39) I3463T probably benign Het
Iars1 T C 13: 49,855,995 (GRCm39) Y289H probably damaging Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Itgb1 T G 8: 129,449,335 (GRCm39) Y585D possibly damaging Het
Kif14 C T 1: 136,396,840 (GRCm39) T382I probably benign Het
Lypd10 T A 7: 24,412,872 (GRCm39) D93E probably benign Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mgat4b T C 11: 50,121,908 (GRCm39) V143A possibly damaging Het
Mroh2a C A 1: 88,183,287 (GRCm39) L1292I probably damaging Het
Nek8 C T 11: 78,062,033 (GRCm39) S237N probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfatc2ip A G 7: 125,990,507 (GRCm39) S165P probably benign Het
Or1e34 T C 11: 73,778,611 (GRCm39) M196V probably benign Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Patj C A 4: 98,555,885 (GRCm39) Q297K probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Pip4k2b A T 11: 97,613,762 (GRCm39) probably benign Het
Ptch1 A G 13: 63,661,565 (GRCm39) V1054A possibly damaging Het
Slc17a5 G A 9: 78,485,956 (GRCm39) A43V probably damaging Het
Spata20 T A 11: 94,371,435 (GRCm39) D643V probably damaging Het
Tars2 A T 3: 95,655,869 (GRCm39) V289E probably benign Het
Tmem135 A T 7: 88,793,890 (GRCm39) I384N probably damaging Het
Trip12 C T 1: 84,736,771 (GRCm39) M816I probably benign Het
Ulk2 T C 11: 61,698,880 (GRCm39) probably benign Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign Het
Other mutations in Hivep2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Hivep2 APN 10 14,017,988 (GRCm39) missense probably damaging 1.00
IGL00963:Hivep2 APN 10 14,005,091 (GRCm39) missense probably damaging 1.00
IGL01066:Hivep2 APN 10 14,024,768 (GRCm39) missense possibly damaging 0.92
IGL01395:Hivep2 APN 10 14,008,544 (GRCm39) critical splice donor site probably null
IGL01474:Hivep2 APN 10 14,019,406 (GRCm39) missense probably damaging 1.00
IGL01481:Hivep2 APN 10 14,024,981 (GRCm39) missense probably benign
IGL01597:Hivep2 APN 10 14,025,118 (GRCm39) nonsense probably null
IGL01719:Hivep2 APN 10 14,006,267 (GRCm39) missense probably damaging 1.00
IGL01952:Hivep2 APN 10 14,018,075 (GRCm39) missense possibly damaging 0.54
IGL02170:Hivep2 APN 10 14,003,548 (GRCm39) missense possibly damaging 0.46
IGL02315:Hivep2 APN 10 14,006,983 (GRCm39) missense probably benign 0.01
IGL02517:Hivep2 APN 10 14,006,926 (GRCm39) missense probably benign 0.01
IGL02535:Hivep2 APN 10 14,015,241 (GRCm39) missense probably damaging 1.00
IGL02539:Hivep2 APN 10 14,007,622 (GRCm39) missense probably damaging 0.97
IGL02637:Hivep2 APN 10 14,006,452 (GRCm39) missense possibly damaging 0.89
IGL02715:Hivep2 APN 10 14,007,131 (GRCm39) missense probably benign 0.03
IGL02948:Hivep2 APN 10 14,004,757 (GRCm39) missense probably benign 0.44
IGL03113:Hivep2 APN 10 14,006,395 (GRCm39) missense probably damaging 1.00
IGL03161:Hivep2 APN 10 14,019,100 (GRCm39) missense probably damaging 1.00
IGL03173:Hivep2 APN 10 14,003,726 (GRCm39) missense possibly damaging 0.75
IGL03310:Hivep2 APN 10 14,019,411 (GRCm39) missense probably damaging 1.00
BB010:Hivep2 UTSW 10 14,003,581 (GRCm39) missense probably damaging 1.00
BB020:Hivep2 UTSW 10 14,003,581 (GRCm39) missense probably damaging 1.00
R0005:Hivep2 UTSW 10 14,004,493 (GRCm39) missense probably damaging 0.99
R0053:Hivep2 UTSW 10 14,007,865 (GRCm39) missense probably damaging 1.00
R0053:Hivep2 UTSW 10 14,007,865 (GRCm39) missense probably damaging 1.00
R0136:Hivep2 UTSW 10 14,007,622 (GRCm39) missense probably benign 0.04
R0143:Hivep2 UTSW 10 14,005,099 (GRCm39) missense probably damaging 1.00
R0172:Hivep2 UTSW 10 14,015,218 (GRCm39) missense probably damaging 1.00
R0226:Hivep2 UTSW 10 14,005,456 (GRCm39) missense probably benign 0.26
R0348:Hivep2 UTSW 10 14,005,702 (GRCm39) missense possibly damaging 0.76
R0352:Hivep2 UTSW 10 14,019,039 (GRCm39) missense possibly damaging 0.74
R1710:Hivep2 UTSW 10 14,005,249 (GRCm39) nonsense probably null
R1959:Hivep2 UTSW 10 14,008,453 (GRCm39) missense probably benign 0.02
R2017:Hivep2 UTSW 10 14,006,501 (GRCm39) missense probably damaging 0.96
R2085:Hivep2 UTSW 10 14,015,273 (GRCm39) nonsense probably null
R2085:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2163:Hivep2 UTSW 10 14,003,970 (GRCm39) nonsense probably null
R2206:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2207:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2228:Hivep2 UTSW 10 14,004,107 (GRCm39) missense probably damaging 1.00
R2241:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2242:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2243:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2246:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2247:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2273:Hivep2 UTSW 10 14,008,187 (GRCm39) missense probably benign 0.02
R2357:Hivep2 UTSW 10 14,019,043 (GRCm39) missense probably benign 0.01
R2517:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2519:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2858:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2859:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2916:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R2921:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3051:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3177:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3277:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3620:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3621:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3701:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3802:Hivep2 UTSW 10 14,024,705 (GRCm39) missense possibly damaging 0.94
R3810:Hivep2 UTSW 10 14,006,101 (GRCm39) missense probably benign
R3811:Hivep2 UTSW 10 14,006,101 (GRCm39) missense probably benign
R3817:Hivep2 UTSW 10 14,019,685 (GRCm39) missense possibly damaging 0.46
R3818:Hivep2 UTSW 10 14,019,685 (GRCm39) missense possibly damaging 0.46
R3819:Hivep2 UTSW 10 14,019,685 (GRCm39) missense possibly damaging 0.46
R3836:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3837:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3838:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3839:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3897:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3900:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3932:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3954:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R3957:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4001:Hivep2 UTSW 10 14,003,476 (GRCm39) missense probably damaging 1.00
R4134:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4180:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4248:Hivep2 UTSW 10 14,007,299 (GRCm39) missense probably damaging 1.00
R4416:Hivep2 UTSW 10 14,004,914 (GRCm39) missense probably benign
R4436:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4437:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4474:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4475:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4476:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4636:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4637:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4791:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4792:Hivep2 UTSW 10 14,004,713 (GRCm39) missense probably benign 0.16
R4825:Hivep2 UTSW 10 14,007,063 (GRCm39) missense possibly damaging 0.81
R4955:Hivep2 UTSW 10 14,006,702 (GRCm39) missense probably benign 0.44
R5094:Hivep2 UTSW 10 14,007,893 (GRCm39) missense probably benign
R5129:Hivep2 UTSW 10 14,006,608 (GRCm39) missense probably damaging 1.00
R5163:Hivep2 UTSW 10 14,015,169 (GRCm39) missense probably damaging 1.00
R5255:Hivep2 UTSW 10 14,007,011 (GRCm39) splice site probably null
R5330:Hivep2 UTSW 10 14,007,164 (GRCm39) missense probably damaging 1.00
R5341:Hivep2 UTSW 10 14,008,336 (GRCm39) missense possibly damaging 0.94
R5453:Hivep2 UTSW 10 14,003,972 (GRCm39) missense possibly damaging 0.78
R5513:Hivep2 UTSW 10 14,008,417 (GRCm39) nonsense probably null
R5535:Hivep2 UTSW 10 14,006,766 (GRCm39) missense probably benign 0.00
R5613:Hivep2 UTSW 10 14,015,239 (GRCm39) missense probably damaging 1.00
R5804:Hivep2 UTSW 10 14,009,519 (GRCm39) missense probably benign 0.01
R6074:Hivep2 UTSW 10 14,007,485 (GRCm39) missense probably benign 0.18
R6163:Hivep2 UTSW 10 14,005,736 (GRCm39) missense probably damaging 0.98
R6250:Hivep2 UTSW 10 14,007,503 (GRCm39) missense probably benign 0.01
R6696:Hivep2 UTSW 10 14,009,503 (GRCm39) missense probably benign 0.06
R6754:Hivep2 UTSW 10 14,005,382 (GRCm39) missense probably benign 0.06
R6756:Hivep2 UTSW 10 14,008,303 (GRCm39) missense probably damaging 1.00
R6799:Hivep2 UTSW 10 14,004,757 (GRCm39) missense probably benign 0.28
R6862:Hivep2 UTSW 10 14,006,327 (GRCm39) missense probably damaging 1.00
R6932:Hivep2 UTSW 10 14,004,245 (GRCm39) missense probably damaging 1.00
R6943:Hivep2 UTSW 10 14,004,058 (GRCm39) missense probably damaging 1.00
R7027:Hivep2 UTSW 10 14,025,322 (GRCm39) missense probably damaging 1.00
R7027:Hivep2 UTSW 10 14,025,321 (GRCm39) missense probably damaging 0.99
R7198:Hivep2 UTSW 10 14,005,710 (GRCm39) missense probably benign
R7248:Hivep2 UTSW 10 14,006,909 (GRCm39) missense possibly damaging 0.86
R7256:Hivep2 UTSW 10 14,004,845 (GRCm39) missense probably benign 0.29
R7426:Hivep2 UTSW 10 14,007,061 (GRCm39) missense possibly damaging 0.93
R7427:Hivep2 UTSW 10 14,009,485 (GRCm39) missense possibly damaging 0.94
R7638:Hivep2 UTSW 10 14,019,595 (GRCm39) missense possibly damaging 0.81
R7731:Hivep2 UTSW 10 14,025,458 (GRCm39) missense probably benign
R7740:Hivep2 UTSW 10 14,003,414 (GRCm39) missense probably damaging 1.00
R7797:Hivep2 UTSW 10 14,005,847 (GRCm39) missense probably benign
R7933:Hivep2 UTSW 10 14,003,581 (GRCm39) missense probably damaging 1.00
R8329:Hivep2 UTSW 10 14,004,011 (GRCm39) missense probably damaging 1.00
R8399:Hivep2 UTSW 10 14,008,178 (GRCm39) missense possibly damaging 0.63
R8767:Hivep2 UTSW 10 14,004,992 (GRCm39) missense probably damaging 1.00
R8802:Hivep2 UTSW 10 14,015,166 (GRCm39) missense probably damaging 1.00
R9002:Hivep2 UTSW 10 14,008,157 (GRCm39) missense probably benign 0.02
R9088:Hivep2 UTSW 10 14,006,995 (GRCm39) missense probably damaging 1.00
R9137:Hivep2 UTSW 10 14,004,712 (GRCm39) missense probably benign
R9198:Hivep2 UTSW 10 14,005,621 (GRCm39) missense probably benign 0.06
R9338:Hivep2 UTSW 10 14,004,693 (GRCm39) nonsense probably null
R9408:Hivep2 UTSW 10 14,007,505 (GRCm39) missense probably damaging 1.00
R9514:Hivep2 UTSW 10 14,005,523 (GRCm39) missense probably benign 0.34
R9516:Hivep2 UTSW 10 14,005,523 (GRCm39) missense probably benign 0.34
R9591:Hivep2 UTSW 10 14,019,640 (GRCm39) missense probably damaging 0.96
R9623:Hivep2 UTSW 10 14,006,546 (GRCm39) missense probably damaging 1.00
R9710:Hivep2 UTSW 10 14,015,203 (GRCm39) missense probably damaging 1.00
R9738:Hivep2 UTSW 10 14,019,583 (GRCm39) missense probably damaging 1.00
R9781:Hivep2 UTSW 10 14,005,828 (GRCm39) missense probably benign
Z1177:Hivep2 UTSW 10 14,019,051 (GRCm39) missense probably damaging 0.98
Z1177:Hivep2 UTSW 10 14,007,530 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTCCTTCGAGAAGATTTCGCC -3'
(R):5'- GCACTGAGTTCTTCCACAATCTGCC -3'

Sequencing Primer
(F):5'- ACGTTCCATCCTACGGAAGTG -3'
(R):5'- TCCACAATCTGCCCGTACATC -3'
Posted On 2013-07-30