Incidental Mutation 'R4248:Hivep2'
ID 320501
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 041064-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R4248 (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 14007299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1299 (E1299G)
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: E1299G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: E1299G

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 damaging
Transcript: ENSMUST00000187083
AA Change: E1299G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: E1299G

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: E1299G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: E1299G

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 0.1119 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
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
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Alox12b G A 11: 69,054,431 (GRCm39) V250I probably benign Het
Armt1 T C 10: 4,389,687 (GRCm39) F115L probably benign Het
Cdh9 T C 15: 16,850,474 (GRCm39) F536L probably benign Het
Fbxo25 T C 8: 13,989,617 (GRCm39) S355P probably damaging Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Gapt C A 13: 110,490,289 (GRCm39) V125F probably damaging Het
Gucd1 A T 10: 75,345,662 (GRCm39) V131E probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hnf4g A G 3: 3,717,909 (GRCm39) D342G possibly damaging Het
Kmt2b C T 7: 30,273,489 (GRCm39) R2349H probably benign Het
Lama5 C T 2: 179,822,220 (GRCm39) R2896Q possibly damaging Het
Moxd2 A C 6: 40,855,933 (GRCm39) I552S probably damaging Het
Nkx1-2 TGGTGAGAGGGGGCCGCCTTGGCCCCG TG 7: 132,201,209 (GRCm39) probably null Het
Onecut3 A G 10: 80,349,963 (GRCm39) T486A possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pirb A G 7: 3,722,297 (GRCm39) F182S probably damaging Het
Rev1 C T 1: 38,146,729 (GRCm39) R34H possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Tep1 T C 14: 51,100,351 (GRCm39) H389R possibly damaging Het
Tnfrsf1b G A 4: 144,942,535 (GRCm39) A416V probably benign Het
Ust A T 10: 8,393,982 (GRCm39) L61Q possibly damaging Het
Vmn2r101 A T 17: 19,809,376 (GRCm39) K168N probably damaging 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
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
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'- AGCTGACCTTCATTCTAGCTAC -3'
(R):5'- GGCTGCATTGGTTACCAGTG -3'

Sequencing Primer
(F):5'- TAGCTACCCCTTAGAGCATGTAG -3'
(R):5'- CTCATCGACCTTGCATATGACGATG -3'
Posted On 2015-06-12