Incidental Mutation 'IGL00264:Hexim2'
ID 6014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hexim2
Ensembl Gene ENSMUSG00000043372
Gene Name hexamethylene bis-acetamide inducible 2
Synonyms 4933402L21Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # IGL00264
Quality Score
Status
Chromosome 11
Chromosomal Location 103023255-103030702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103029281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 111 (E111G)
Ref Sequence ENSEMBL: ENSMUSP00000122591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062530] [ENSMUST00000107037] [ENSMUST00000124928] [ENSMUST00000130341] [ENSMUST00000150275]
AlphaFold Q3TVI4
Predicted Effect probably damaging
Transcript: ENSMUST00000062530
AA Change: E111G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053678
Gene: ENSMUSG00000043372
AA Change: E111G

DomainStartEndE-ValueType
Pfam:HEXIM 101 227 2.2e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107037
AA Change: E111G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102652
Gene: ENSMUSG00000043372
AA Change: E111G

DomainStartEndE-ValueType
Pfam:HEXIM 101 226 1.1e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124928
AA Change: E111G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116991
Gene: ENSMUSG00000043372
AA Change: E111G

DomainStartEndE-ValueType
Pfam:HEXIM 101 174 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130341
Predicted Effect probably damaging
Transcript: ENSMUST00000150275
AA Change: E111G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122591
Gene: ENSMUSG00000043372
AA Change: E111G

DomainStartEndE-ValueType
low complexity region 87 103 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 the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 T G 1: 125,324,966 (GRCm39) I319L probably benign Het
Akap7 C T 10: 25,047,138 (GRCm39) D20N probably benign Het
Ambra1 T A 2: 91,741,934 (GRCm39) S1070T probably benign Het
Arhgef9 T C X: 94,125,237 (GRCm39) probably null Het
Ascc3 T G 10: 50,590,531 (GRCm39) V1083G probably damaging Het
Asns T A 6: 7,680,179 (GRCm39) E312D probably damaging Het
Bpifc A C 10: 85,796,392 (GRCm39) V472G possibly damaging Het
Ccdc71 T A 9: 108,340,237 (GRCm39) S17T probably damaging Het
Cebpzos T C 17: 79,225,777 (GRCm39) probably benign Het
Cfi T C 3: 129,666,744 (GRCm39) I489T probably damaging Het
Chrm2 T A 6: 36,500,326 (GRCm39) F61Y probably damaging Het
Cpxm1 T C 2: 130,237,863 (GRCm39) Y149C probably damaging Het
Dnah6 A G 6: 73,172,720 (GRCm39) I246T probably benign Het
Ereg C A 5: 91,222,638 (GRCm39) S7Y probably benign Het
Ghsr T A 3: 27,429,022 (GRCm39) L349Q possibly damaging Het
Gm10754 A G 10: 97,518,274 (GRCm39) probably benign Het
Gm8237 A T 14: 5,864,475 (GRCm38) L29H probably benign Het
Itga1 A T 13: 115,128,899 (GRCm39) N586K possibly damaging Het
Kat6b A G 14: 21,718,627 (GRCm39) D1102G probably benign Het
Kif27 A T 13: 58,485,418 (GRCm39) M514K probably benign Het
Matn2 T C 15: 34,428,616 (GRCm39) I660T probably damaging Het
Mki67 C A 7: 135,309,549 (GRCm39) G301* probably null Het
Or13a25 T A 7: 140,247,854 (GRCm39) I211N probably benign Het
Or1l4b T C 2: 37,037,079 (GRCm39) F285S probably damaging Het
Or5b121 A C 19: 13,507,214 (GRCm39) Y103S probably damaging Het
Or5b99 A G 19: 12,976,683 (GRCm39) Y111C probably damaging Het
Pcdhb8 A T 18: 37,488,526 (GRCm39) H68L probably benign Het
Pkhd1l1 T C 15: 44,354,425 (GRCm39) V272A possibly damaging Het
Pstpip2 T C 18: 77,959,259 (GRCm39) probably benign Het
Rdh14 G T 12: 10,441,134 (GRCm39) G99W probably damaging Het
Rmc1 T C 18: 12,312,276 (GRCm39) V172A probably benign Het
Sra1 A T 18: 36,801,792 (GRCm39) S99R probably benign Het
Tbrg1 G T 9: 37,562,337 (GRCm39) N280K probably benign Het
Ugt8a A G 3: 125,708,285 (GRCm39) probably null Het
Usp40 A T 1: 87,931,960 (GRCm39) probably benign Het
Vmn1r45 T A 6: 89,910,646 (GRCm39) Y108F probably damaging Het
Zfp521 A G 18: 13,979,559 (GRCm39) Y285H probably benign Het
Other mutations in Hexim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Hexim2 APN 11 103,024,905 (GRCm39) start codon destroyed probably benign 0.14
IGL01142:Hexim2 APN 11 103,024,960 (GRCm39) missense probably benign 0.27
IGL01369:Hexim2 APN 11 103,029,464 (GRCm39) missense probably benign 0.01
IGL02738:Hexim2 APN 11 103,029,103 (GRCm39) missense probably damaging 1.00
R1106:Hexim2 UTSW 11 103,029,319 (GRCm39) missense probably damaging 1.00
R1507:Hexim2 UTSW 11 103,029,147 (GRCm39) nonsense probably null
R4847:Hexim2 UTSW 11 103,029,767 (GRCm39) missense probably benign 0.04
R5436:Hexim2 UTSW 11 103,029,095 (GRCm39) missense probably null 0.98
R5485:Hexim2 UTSW 11 103,029,884 (GRCm39) missense probably benign 0.06
R5814:Hexim2 UTSW 11 103,029,209 (GRCm39) missense probably damaging 1.00
R6020:Hexim2 UTSW 11 103,029,118 (GRCm39) missense probably benign 0.01
R7766:Hexim2 UTSW 11 103,029,838 (GRCm39) missense probably benign 0.13
R8399:Hexim2 UTSW 11 103,029,329 (GRCm39) missense probably damaging 1.00
R9171:Hexim2 UTSW 11 103,029,822 (GRCm39) nonsense probably null
Posted On 2012-04-20