Incidental Mutation 'IGL00963:Hivep2'
ID 28395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hivep2
Ensembl Gene ENSMUSG00000015501
Gene Name human immunodeficiency virus type I enhancer binding protein 2
Synonyms Gm20114, Shn-2, Schnurri-2, MIBP1
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # IGL00963
Quality Score
Status
Chromosome 10
Chromosomal Location 13841819-14027118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14005091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 563 (S563N)
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: S563N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: S563N

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: S563N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: S563N

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: S563N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: S563N

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
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,582,228 (GRCm39) probably benign Het
Alyref2 C T 1: 171,331,816 (GRCm39) Q198* probably null Het
Ankrd13a T C 5: 114,939,863 (GRCm39) S497P probably damaging Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Col13a1 T C 10: 61,674,476 (GRCm39) probably benign Het
Ctnna3 T A 10: 64,781,728 (GRCm39) D730E probably damaging Het
Dock11 A G X: 35,296,035 (GRCm39) Q1197R possibly damaging Het
Drosha T A 15: 12,926,083 (GRCm39) I1224N probably damaging Het
Dsc1 T C 18: 20,245,043 (GRCm39) K42R probably null Het
Engase A G 11: 118,373,824 (GRCm39) D322G probably damaging Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Fgfr2 C T 7: 129,830,491 (GRCm39) M47I probably damaging Het
Gad1-ps G T 10: 99,281,310 (GRCm39) noncoding transcript Het
Gatb A G 3: 85,526,255 (GRCm39) S378G probably benign Het
Irs2 G A 8: 11,055,867 (GRCm39) A855V probably benign Het
Jagn1 T C 6: 113,424,436 (GRCm39) S103P probably damaging Het
Kdm6a T A X: 18,112,665 (GRCm39) probably benign Het
Lmcd1 T C 6: 112,306,895 (GRCm39) C356R probably damaging Het
Mefv T A 16: 3,533,584 (GRCm39) Y229F possibly damaging Het
Myef2 T C 2: 124,957,395 (GRCm39) Y120C probably damaging Het
Myo9a T G 9: 59,807,655 (GRCm39) I2074S probably damaging Het
Nhs A G X: 160,630,045 (GRCm39) S337P probably damaging Het
Nphp4 T G 4: 152,622,318 (GRCm39) H566Q probably benign Het
Or2d2 A T 7: 106,728,272 (GRCm39) C109* probably null Het
Or52z13 T A 7: 103,246,844 (GRCm39) probably null Het
Pabpc2 C A 18: 39,908,390 (GRCm39) Q552K possibly damaging Het
Podn T A 4: 107,879,371 (GRCm39) N104I probably damaging Het
Rit1 T C 3: 88,633,738 (GRCm39) V94A probably damaging Het
Scn7a A T 2: 66,534,289 (GRCm39) probably benign Het
Septin4 A T 11: 87,474,199 (GRCm39) K29M possibly damaging Het
Sowahb T C 5: 93,191,870 (GRCm39) Y283C probably damaging Het
Srbd1 A T 17: 86,422,637 (GRCm39) W460R probably damaging Het
Svep1 T A 4: 58,072,791 (GRCm39) K2173* probably null Het
Tlr6 T C 5: 65,112,019 (GRCm39) N296S possibly damaging Het
Trpm8 A G 1: 88,307,549 (GRCm39) D1073G possibly damaging Het
Ttc28 A T 5: 111,434,255 (GRCm39) K2399* probably null Het
Ttn A G 2: 76,717,627 (GRCm39) probably benign Het
Uroc1 C T 6: 90,315,810 (GRCm39) T189I probably benign Het
Usp18 C T 6: 121,232,341 (GRCm39) Q122* probably null Het
Zfp420 T C 7: 29,574,518 (GRCm39) I246T probably damaging Het
Zfp644 T C 5: 106,786,503 (GRCm39) probably null Het
Zfp871 A T 17: 32,993,726 (GRCm39) V483E probably benign Het
Other mutations in Hivep2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Hivep2 APN 10 14,017,988 (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 14,015,273 (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
Posted On 2013-04-17