Incidental Mutation 'IGL00519:Hexim2'
ID 6015
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? Probably non essential (E-score: 0.229) question?
Stock # IGL00519
Quality Score
Status
Chromosome 11
Chromosomal Location 103023255-103030702 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 103024905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000114405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062530] [ENSMUST00000107037] [ENSMUST00000124928] [ENSMUST00000130341] [ENSMUST00000150275]
AlphaFold Q3TVI4
Predicted Effect probably benign
Transcript: ENSMUST00000062530
AA Change: M1L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000053678
Gene: ENSMUSG00000043372
AA Change: M1L

DomainStartEndE-ValueType
Pfam:HEXIM 101 227 2.2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107037
AA Change: M1L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102652
Gene: ENSMUSG00000043372
AA Change: M1L

DomainStartEndE-ValueType
Pfam:HEXIM 101 226 1.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124928
AA Change: M1L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000116991
Gene: ENSMUSG00000043372
AA Change: M1L

DomainStartEndE-ValueType
Pfam:HEXIM 101 174 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130341
AA Change: M1L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000150275
AA Change: M1L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000122591
Gene: ENSMUSG00000043372
AA Change: M1L

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,562 (GRCm39) N309K probably damaging Het
Asap1 G A 15: 63,982,791 (GRCm39) P846S probably damaging Het
Atg10 A G 13: 91,302,330 (GRCm39) probably benign Het
Cdk18 C A 1: 132,043,226 (GRCm39) R433L probably benign Het
Celsr1 A G 15: 85,915,037 (GRCm39) Y979H probably damaging Het
Cracr2b T C 7: 141,045,670 (GRCm39) probably benign Het
Csmd2 T C 4: 128,377,266 (GRCm39) F2049L probably benign Het
Cubn T C 2: 13,287,730 (GRCm39) N3450D probably benign Het
Dmrt1 T C 19: 25,580,638 (GRCm39) L350P probably damaging Het
Dnah5 A T 15: 28,444,364 (GRCm39) D4054V probably benign Het
Dpp8 A T 9: 64,985,290 (GRCm39) T783S probably damaging Het
Enpp3 T C 10: 24,663,670 (GRCm39) T564A probably benign Het
Exoc6b T C 6: 84,966,435 (GRCm39) K180E probably benign Het
Faf1 T A 4: 109,697,578 (GRCm39) F301L probably benign Het
Fbxo7 A T 10: 85,864,928 (GRCm39) E77V probably damaging Het
Gabpa T G 16: 84,657,489 (GRCm39) *455G probably null Het
Lrrc24 T A 15: 76,602,263 (GRCm39) N164I probably damaging Het
Lrrc8b G A 5: 105,629,591 (GRCm39) A646T possibly damaging Het
Mansc1 T A 6: 134,587,769 (GRCm39) Q136L possibly damaging Het
Mlxip T A 5: 123,585,268 (GRCm39) V592E probably benign Het
Ncor2 T C 5: 125,161,988 (GRCm39) T429A unknown Het
Tbcd A G 11: 121,466,147 (GRCm39) N591S probably damaging Het
Tenm4 T C 7: 96,454,345 (GRCm39) probably benign Het
Uri1 A G 7: 37,660,978 (GRCm39) S522P probably damaging Het
Ush2a C T 1: 188,176,865 (GRCm39) S1343L probably benign Het
Other mutations in Hexim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Hexim2 APN 11 103,029,281 (GRCm39) missense probably damaging 1.00
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