Incidental Mutation 'R4041:Hexim1'
ID 313891
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 040966-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.869) question?
Stock # R4041 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103007151-103010551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103007932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 62 (E62G)
Ref Sequence ENSEMBL: ENSMUSP00000057339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024492] [ENSMUST00000053063] [ENSMUST00000092559] [ENSMUST00000107040]
AlphaFold Q8R409
Predicted Effect probably benign
Transcript: ENSMUST00000024492
SMART Domains Protein: ENSMUSP00000024492
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
Pfam:ACBP 11 93 5.6e-27 PFAM
low complexity region 149 169 N/A INTRINSIC
low complexity region 239 254 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000053063
AA Change: E62G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000057339
Gene: ENSMUSG00000048878
AA Change: E62G

DomainStartEndE-ValueType
Pfam:HEXIM 161 298 2.6e-58 PFAM
low complexity region 315 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092559
SMART Domains Protein: ENSMUSP00000090220
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
Pfam:ACBP 10 81 1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107040
SMART Domains Protein: ENSMUSP00000102655
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
PDB:2WH5|F 7 66 1e-22 PDB
low complexity region 109 129 N/A INTRINSIC
low complexity region 199 214 N/A INTRINSIC
transmembrane domain 256 278 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124965
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 100% (29/29)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf5 T C 7: 44,462,921 (GRCm39) T68A possibly damaging Het
Cage1 A G 13: 38,203,153 (GRCm39) L637P possibly damaging Het
Cfl1 T C 19: 5,542,556 (GRCm39) I12T probably benign Het
Clcn1 A G 6: 42,286,902 (GRCm39) E653G probably damaging Het
Cntnap5a C A 1: 116,112,129 (GRCm39) P473Q probably benign Het
Dnah7b T C 1: 46,120,655 (GRCm39) S91P probably benign Het
Fcgbp A G 7: 27,813,404 (GRCm39) Q2313R probably benign Het
Gpc5 A T 14: 115,370,628 (GRCm39) Q151L probably damaging Het
Ifna13 A G 4: 88,562,228 (GRCm39) F132S probably benign Het
Irgm2 A G 11: 58,110,956 (GRCm39) M228V probably benign Het
Klhl41 A G 2: 69,501,054 (GRCm39) M172V probably benign Het
Klk1 A T 7: 43,878,986 (GRCm39) N260I probably damaging Het
Krit1 G C 5: 3,859,642 (GRCm39) R110P probably damaging Het
Krt7 T A 15: 101,321,161 (GRCm39) probably null Het
Lrrn4cl T A 19: 8,829,468 (GRCm39) Y149N probably damaging Het
Ltbp3 G T 19: 5,801,899 (GRCm39) C739F possibly damaging Het
Mbnl2 C T 14: 120,626,486 (GRCm39) H239Y probably damaging Het
Obscn G A 11: 58,942,357 (GRCm39) R4942* probably null Het
Or2bd2 T C 7: 6,443,688 (GRCm39) L263P probably damaging Het
R3hcc1 A G 14: 69,944,111 (GRCm39) S45P probably damaging Het
Ryr1 A T 7: 28,785,356 (GRCm39) H1778Q possibly damaging Het
Scyl2 T A 10: 89,485,914 (GRCm39) K558N probably damaging Het
Shank1 G A 7: 43,991,586 (GRCm39) V677M unknown Het
Slc39a5 T C 10: 128,232,337 (GRCm39) M488V possibly damaging Het
Styk1 A T 6: 131,289,880 (GRCm39) probably null Het
Styxl2 T C 1: 165,927,680 (GRCm39) D644G probably benign Het
Usp32 A G 11: 84,908,565 (GRCm39) V1047A probably benign Het
Wnt3a G T 11: 59,140,470 (GRCm39) H349N probably damaging Het
Zbtb39 T C 10: 127,579,423 (GRCm39) C666R probably damaging Het
Zfp420 T C 7: 29,575,427 (GRCm39) M549T probably benign Het
Other mutations in Hexim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6719:Hexim1 UTSW 11 103,008,091 (GRCm39) missense probably benign
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'- CGAGCCACTCTTGACAGAAC -3'
(R):5'- ATGCCGCTTCTTCTTTGAGG -3'

Sequencing Primer
(F):5'- GAGCCACTCTTGACAGAACATCAAC -3'
(R):5'- TCCGAGTCATGACCTGGCTG -3'
Posted On 2015-04-30