Incidental Mutation 'IGL00519:Hexim2'
ID6015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hexim2
Ensembl Gene ENSMUSG00000043372
Gene Namehexamethylene bis-acetamide inducible 2
Synonyms4933402L21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #IGL00519
Quality Score
Status
Chromosome11
Chromosomal Location103132429-103139876 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 103134079 bp
ZygosityHeterozygous
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]
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: 43,569,525 N309K probably damaging Het
Asap1 G A 15: 64,110,942 P846S probably damaging Het
Atg10 A G 13: 91,154,211 probably benign Het
Cdk18 C A 1: 132,115,488 R433L probably benign Het
Celsr1 A G 15: 86,030,836 Y979H probably damaging Het
Cracr2b T C 7: 141,465,757 probably benign Het
Csmd2 T C 4: 128,483,473 F2049L probably benign Het
Cubn T C 2: 13,282,919 N3450D probably benign Het
Dmrt1 T C 19: 25,603,274 L350P probably damaging Het
Dnah5 A T 15: 28,444,218 D4054V probably benign Het
Dpp8 A T 9: 65,078,008 T783S probably damaging Het
Enpp3 T C 10: 24,787,772 T564A probably benign Het
Exoc6b T C 6: 84,989,453 K180E probably benign Het
Faf1 T A 4: 109,840,381 F301L probably benign Het
Fbxo7 A T 10: 86,029,064 E77V probably damaging Het
Gabpa T G 16: 84,860,601 *455G probably null Het
Lrrc24 T A 15: 76,718,063 N164I probably damaging Het
Lrrc8b G A 5: 105,481,725 A646T possibly damaging Het
Mansc1 T A 6: 134,610,806 Q136L possibly damaging Het
Mlxip T A 5: 123,447,205 V592E probably benign Het
Ncor2 T C 5: 125,084,924 T429A unknown Het
Tbcd A G 11: 121,575,321 N591S probably damaging Het
Tenm4 T C 7: 96,805,138 probably benign Het
Uri1 A G 7: 37,961,553 S522P probably damaging Het
Ush2a C T 1: 188,444,668 S1343L probably benign Het
Other mutations in Hexim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Hexim2 APN 11 103138455 missense probably damaging 1.00
IGL01142:Hexim2 APN 11 103134134 missense probably benign 0.27
IGL01369:Hexim2 APN 11 103138638 missense probably benign 0.01
IGL02738:Hexim2 APN 11 103138277 missense probably damaging 1.00
R1106:Hexim2 UTSW 11 103138493 missense probably damaging 1.00
R1507:Hexim2 UTSW 11 103138321 nonsense probably null
R4847:Hexim2 UTSW 11 103138941 missense probably benign 0.04
R5436:Hexim2 UTSW 11 103138269 missense probably null 0.98
R5485:Hexim2 UTSW 11 103139058 missense probably benign 0.06
R5814:Hexim2 UTSW 11 103138383 missense probably damaging 1.00
R6020:Hexim2 UTSW 11 103138292 missense probably benign 0.01
R7766:Hexim2 UTSW 11 103139012 missense probably benign 0.13
R8399:Hexim2 UTSW 11 103138503 missense probably damaging 1.00
Posted On2012-04-20