Incidental Mutation 'R4001:Hivep2'
ID 312480
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 040844-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R4001 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 13841819-14027118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14003476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 25 (R25G)
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 damaging
Transcript: ENSMUST00000015645
AA Change: R25G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: R25G

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 damaging
Transcript: ENSMUST00000186989
AA Change: R25G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140180
Gene: ENSMUSG00000015501
AA Change: R25G

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 damaging
Transcript: ENSMUST00000187083
AA Change: R25G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: R25G

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 damaging
Transcript: ENSMUST00000191138
AA Change: R25G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: R25G

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 0.1604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (28/28)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 C A 8: 111,768,234 (GRCm39) H202N probably damaging Het
Aipl1 T A 11: 71,922,428 (GRCm39) T94S probably damaging Het
Cdhr2 A T 13: 54,866,079 (GRCm39) E293V probably benign Het
Chd9 C T 8: 91,683,185 (GRCm39) R542C probably damaging Het
Clip4 A T 17: 72,106,071 (GRCm39) I85L probably damaging Het
Cntnap5c G A 17: 58,714,735 (GRCm39) probably null Het
Fbn1 A G 2: 125,319,415 (GRCm39) probably null Het
Klhdc7b A G 15: 89,272,187 (GRCm39) N1023S probably damaging Het
Lipi T A 16: 75,370,759 (GRCm39) R153* probably null Het
Lpcat4 A T 2: 112,070,296 (GRCm39) Q3L probably benign Het
Naa16 C A 14: 79,580,561 (GRCm39) probably null Het
Nalcn G T 14: 123,834,006 (GRCm39) N56K probably damaging Het
Obscn C G 11: 59,025,395 (GRCm39) A412P probably damaging Het
Or1e23 A G 11: 73,407,812 (GRCm39) L71P probably damaging Het
Pde8a T A 7: 80,967,104 (GRCm39) L415Q probably damaging Het
Ppp4r3c1 T C X: 88,974,116 (GRCm39) I694V probably benign Het
Rbms2 C T 10: 127,987,169 (GRCm39) S13N probably benign Het
Rgsl1 A G 1: 153,693,330 (GRCm39) L617P probably damaging Het
Sap18b T C 8: 96,552,068 (GRCm39) V26A probably benign Het
Senp2 T C 16: 21,847,318 (GRCm39) L282P possibly damaging Het
Srcap T C 7: 127,131,339 (GRCm39) M826T probably damaging Het
Tmc3 T C 7: 83,269,271 (GRCm39) S820P probably benign Het
Tmprss3 T C 17: 31,405,533 (GRCm39) N353S probably damaging Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Trp53bp1 A G 2: 121,035,566 (GRCm39) S1562P probably damaging Het
Uaca G A 9: 60,778,366 (GRCm39) V916I 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
R0657:Hivep2 UTSW 10 14,007,622 (GRCm39) missense probably benign 0.04
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 14,004,713 (GRCm39) missense probably benign 0.16
R2085:Hivep2 UTSW 10 14,015,273 (GRCm39) nonsense probably null
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
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'- CAGGACACTGGCATCCAATG -3'
(R):5'- CTGTGACTTGATGTAGGCCC -3'

Sequencing Primer
(F):5'- ATCAGTCCGCGAGTTCAC -3'
(R):5'- TTTCCGATCTGCTCAGGA -3'
Posted On 2015-04-29