Incidental Mutation 'R1507:Hexim2'
ID 168015
Institutional Source Beutler Lab
Gene Symbol Hexim2
Ensembl Gene ENSMUSG00000043372
Gene Name hexamethylene bis-acetamide inducible 2
Synonyms 4933402L21Rik
MMRRC Submission 039555-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R1507 (G1)
Quality Score 199
Status Validated
Chromosome 11
Chromosomal Location 103023255-103030702 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 103029147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 66 (C66*)
Ref Sequence ENSEMBL: ENSMUSP00000122591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062530] [ENSMUST00000107037] [ENSMUST00000124928] [ENSMUST00000130341] [ENSMUST00000150275]
AlphaFold Q3TVI4
Predicted Effect probably null
Transcript: ENSMUST00000062530
AA Change: C66*
SMART Domains Protein: ENSMUSP00000053678
Gene: ENSMUSG00000043372
AA Change: C66*

DomainStartEndE-ValueType
Pfam:HEXIM 101 227 2.2e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107037
AA Change: C66*
SMART Domains Protein: ENSMUSP00000102652
Gene: ENSMUSG00000043372
AA Change: C66*

DomainStartEndE-ValueType
Pfam:HEXIM 101 226 1.1e-49 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124928
AA Change: C66*
SMART Domains Protein: ENSMUSP00000116991
Gene: ENSMUSG00000043372
AA Change: C66*

DomainStartEndE-ValueType
Pfam:HEXIM 101 174 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130341
Predicted Effect probably null
Transcript: ENSMUST00000150275
AA Change: C66*
SMART Domains Protein: ENSMUSP00000122591
Gene: ENSMUSG00000043372
AA Change: C66*

DomainStartEndE-ValueType
low complexity region 87 103 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 100% (66/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003F12Rik T G 2: 154,391,539 (GRCm39) V102G probably benign Het
Adgrv1 T C 13: 81,620,699 (GRCm39) probably null Het
Ahnak T A 19: 8,987,441 (GRCm39) D2908E probably damaging Het
Aox1 A G 1: 58,143,610 (GRCm39) M1243V probably benign Het
Apobec2 T C 17: 48,730,003 (GRCm39) D221G possibly damaging Het
Bcas1 T C 2: 170,208,348 (GRCm39) D472G probably damaging Het
Btnl7-ps T A 17: 34,760,437 (GRCm39) noncoding transcript Het
Cd209d G T 8: 3,928,453 (GRCm39) Q11K possibly damaging Het
Cdc14a G A 3: 116,087,646 (GRCm39) T455I possibly damaging Het
Cep120 A G 18: 53,830,729 (GRCm39) S843P probably damaging Het
Cped1 A T 6: 22,122,260 (GRCm39) H380L probably damaging Het
Derl2 A T 11: 70,898,171 (GRCm39) W233R probably benign Het
Drd5 A T 5: 38,478,065 (GRCm39) I353F probably damaging Het
E330034G19Rik A T 14: 24,357,055 (GRCm39) Q197L possibly damaging Het
Edil3 T A 13: 89,279,831 (GRCm39) S170T probably damaging Het
Gldc T A 19: 30,096,038 (GRCm39) T658S probably damaging Het
Gpr146 A G 5: 139,379,124 (GRCm39) M309V probably benign Het
H2bc18 A G 3: 96,177,189 (GRCm39) Y41C probably damaging Het
Htr2a T C 14: 74,943,419 (GRCm39) V333A probably damaging Het
Igdcc4 A G 9: 65,041,026 (GRCm39) E1065G probably damaging Het
Katnip T A 7: 125,465,524 (GRCm39) D1325E probably damaging Het
Kcnk9 T A 15: 72,384,083 (GRCm39) E365V possibly damaging Het
Kif28 T A 1: 179,563,571 (GRCm39) N135I probably damaging Het
Kmt2a A T 9: 44,729,700 (GRCm39) probably benign Het
Lamb2 A T 9: 108,367,581 (GRCm39) I1788F probably damaging Het
Lsm6 G A 8: 79,539,608 (GRCm39) R31* probably null Het
Mical3 T A 6: 121,019,199 (GRCm39) T8S probably benign Het
Ncapg2 T C 12: 116,424,186 (GRCm39) F1123S probably benign Het
Nprl2 A G 9: 107,420,191 (GRCm39) D30G probably benign Het
Or51l4 C T 7: 103,404,228 (GRCm39) R188H probably benign Het
Or5ac24 A T 16: 59,165,856 (GRCm39) D69E probably damaging Het
Or8b51 A T 9: 38,569,310 (GRCm39) I126N probably damaging Het
Parvg T A 15: 84,214,359 (GRCm39) V181E probably damaging Het
Pfas T C 11: 68,880,860 (GRCm39) T1106A probably benign Het
Plekhh1 A T 12: 79,126,224 (GRCm39) T1310S probably damaging Het
Potegl A G 2: 23,098,086 (GRCm39) Y88C probably damaging Het
Ptprj A G 2: 90,301,631 (GRCm39) V74A possibly damaging Het
Rapgef2 A T 3: 78,988,600 (GRCm39) probably benign Het
Rfx3 G T 19: 27,745,913 (GRCm39) T731K probably benign Het
Rnf31 A T 14: 55,836,439 (GRCm39) K634* probably null Het
Scp2 CACTTTAATAATACTTT CACTTT 4: 107,944,209 (GRCm39) probably null Het
Set A G 2: 29,959,106 (GRCm39) H101R probably damaging Het
Slc30a6 G T 17: 74,715,857 (GRCm39) V106F probably damaging Het
Slc47a1 A T 11: 61,250,344 (GRCm39) probably null Het
Spaca3 G A 11: 80,753,983 (GRCm39) R40H probably damaging Het
Srpra G A 9: 35,126,766 (GRCm39) R508H probably benign Het
Ston2 A T 12: 91,608,454 (GRCm39) I882N probably benign Het
Tenm3 A G 8: 48,740,857 (GRCm39) S1209P probably benign Het
Tmprss11g T C 5: 86,647,470 (GRCm39) T23A probably benign Het
Topors A G 4: 40,261,829 (GRCm39) V485A probably damaging Het
Tpgs1 T A 10: 79,511,620 (GRCm39) L254Q probably damaging Het
Traf3 A C 12: 111,227,194 (GRCm39) T336P probably benign Het
Ttn T A 2: 76,710,934 (GRCm39) probably benign Het
Ubr5 G A 15: 37,981,114 (GRCm39) R2388W probably damaging Het
Unc13a A G 8: 72,110,910 (GRCm39) S434P probably benign Het
Usp33 A G 3: 152,080,400 (GRCm39) I510M possibly damaging Het
Vmn1r65 C A 7: 6,012,108 (GRCm39) G42V probably benign Het
Xab2 A G 8: 3,666,031 (GRCm39) L262S possibly damaging Het
Yap1 A T 9: 7,953,141 (GRCm39) probably benign Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zfp609 A G 9: 65,702,059 (GRCm39) Y198H possibly damaging Het
Zfp629 T A 7: 127,211,033 (GRCm39) K259* probably null Het
Other mutations in Hexim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Hexim2 APN 11 103,029,281 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCCTTCCTCCCCACTAGAAGAAAG -3'
(R):5'- TTTGGCGAACATCTCCTCACGGAC -3'

Sequencing Primer
(F):5'- CCACTTGAGACAGGTATGAGATG -3'
(R):5'- ATCTCCTCACGGACCCGAG -3'
Posted On 2014-04-13