Incidental Mutation 'R6719:Hexim1'
ID 529503
Institutional Source Beutler Lab
Gene Symbol Hexim1
Ensembl Gene ENSMUSG00000048878
Gene Name hexamethylene bis-acetamide inducible 1
Synonyms CLP-1, Clp1, 7330426E13Rik, HIS1
MMRRC Submission 044837-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.869) question?
Stock # R6719 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 103007151-103010551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103008091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 115 (L115P)
Ref Sequence ENSEMBL: ENSMUSP00000057339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053063]
AlphaFold Q8R409
Predicted Effect probably benign
Transcript: ENSMUST00000053063
AA Change: L115P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057339
Gene: ENSMUSG00000048878
AA Change: L115P

DomainStartEndE-ValueType
Pfam:HEXIM 161 298 2.6e-58 PFAM
low complexity region 315 332 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit prenatal lethalilty associated with dilated cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T C 19: 42,041,151 (GRCm39) I94T possibly damaging Het
Afp T A 5: 90,651,562 (GRCm39) N392K probably benign Het
Asrgl1 C T 19: 9,090,512 (GRCm39) G278D probably damaging Het
Atp2c1 T C 9: 105,301,377 (GRCm39) I611V probably damaging Het
Avl9 A G 6: 56,730,370 (GRCm39) Y571C probably damaging Het
Clrn1 A T 3: 58,753,861 (GRCm39) C167S probably damaging Het
Ctsr C T 13: 61,308,265 (GRCm39) G293D possibly damaging Het
Dmbt1 T A 7: 130,721,332 (GRCm39) S1867T possibly damaging Het
Dock9 A T 14: 121,847,439 (GRCm39) I1025N probably damaging Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Duox2 T A 2: 122,114,867 (GRCm39) probably null Het
Fat3 A G 9: 15,907,440 (GRCm39) L2854P probably benign Het
Fcer1a A G 1: 173,050,340 (GRCm39) S61P possibly damaging Het
Fyb2 A T 4: 104,867,656 (GRCm39) D669V probably benign Het
Herc2 G T 7: 55,862,574 (GRCm39) C4081F probably damaging Het
Kat2a T G 11: 100,602,967 (GRCm39) Q88H probably benign Het
Lrriq1 T C 10: 102,906,977 (GRCm39) Y1581C probably damaging Het
Ltbp4 T G 7: 27,028,188 (GRCm39) D323A probably damaging Het
Mark3 T A 12: 111,581,876 (GRCm39) I115K probably damaging Het
Nudt9 A G 5: 104,209,562 (GRCm39) D271G probably damaging Het
Or2a54 T A 6: 43,092,907 (GRCm39) V77D probably damaging Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pcdha5 T C 18: 37,093,925 (GRCm39) S145P probably damaging Het
Pzp T C 6: 128,501,046 (GRCm39) E104G probably benign Het
Rho T C 6: 115,910,854 (GRCm39) I133T possibly damaging Het
Sall3 G T 18: 81,014,721 (GRCm39) T997K probably damaging Het
Scn8a A T 15: 100,908,896 (GRCm39) probably null Het
Sfxn1 T A 13: 54,260,583 (GRCm39) H310Q probably benign Het
Slc25a18 A G 6: 120,765,215 (GRCm39) D92G probably damaging Het
Slc26a9 T C 1: 131,689,523 (GRCm39) I490T probably benign Het
Terf1 T C 1: 15,908,460 (GRCm39) V351A probably benign Het
Thsd7b A G 1: 130,087,451 (GRCm39) probably null Het
Trgj2 A G 13: 19,495,426 (GRCm39) probably benign Het
Tti1 A T 2: 157,824,220 (GRCm39) C1078S probably benign Het
Ttll3 A G 6: 113,375,993 (GRCm39) probably benign Het
Tubb1 A C 2: 174,299,187 (GRCm39) T290P probably damaging Het
Ugt2b35 G T 5: 87,155,247 (GRCm39) D361Y probably damaging Het
Zc2hc1c T C 12: 85,337,446 (GRCm39) S368P probably damaging Het
Other mutations in Hexim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4041:Hexim1 UTSW 11 103,007,932 (GRCm39) missense probably benign 0.00
R6861:Hexim1 UTSW 11 103,007,793 (GRCm39) missense probably benign 0.00
R7083:Hexim1 UTSW 11 103,007,992 (GRCm39) missense possibly damaging 0.53
R7510:Hexim1 UTSW 11 103,008,067 (GRCm39) missense probably benign
R9331:Hexim1 UTSW 11 103,007,974 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AATCGAGAGCGTCCTTGCAG -3'
(R):5'- GGTGTTATAGGGCGCAACTG -3'

Sequencing Primer
(F):5'- TCCTTGCAGTCCGGTAGC -3'
(R):5'- TATAGGGCGCAACTGGCTGG -3'
Posted On 2018-08-01