Incidental Mutation 'IGL02036:Hdx'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdx
Ensembl Gene ENSMUSG00000034551
Gene Namehighly divergent homeobox
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02036
Quality Score
Chromosomal Location111569931-111697079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111659867 bp
Amino Acid Change Threonine to Serine at position 342 (T342S)
Ref Sequence ENSEMBL: ENSMUSP00000109049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038472] [ENSMUST00000113422]
Predicted Effect probably benign
Transcript: ENSMUST00000038472
AA Change: T284S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043482
Gene: ENSMUSG00000034551
AA Change: T284S

low complexity region 347 361 N/A INTRINSIC
HOX 379 445 7.53e-3 SMART
low complexity region 526 541 N/A INTRINSIC
coiled coil region 543 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113422
AA Change: T342S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000109049
Gene: ENSMUSG00000034551
AA Change: T342S

HOX 1 66 3.34e-2 SMART
low complexity region 405 419 N/A INTRINSIC
HOX 437 503 7.53e-3 SMART
low complexity region 584 599 N/A INTRINSIC
coiled coil region 601 628 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,137,525 V290M possibly damaging Het
Cep290 T A 10: 100,558,100 C2056* probably null Het
Cyp2c38 T A 19: 39,460,316 D143V probably null Het
Ddx10 T C 9: 53,204,183 K617R probably benign Het
Dgat2l6 T A X: 100,545,593 I336N probably damaging Het
Dopey1 A G 9: 86,531,765 I1906M probably benign Het
Dpep3 T G 8: 105,973,785 T430P probably benign Het
Dph1 T C 11: 75,184,165 probably null Het
Epha7 T C 4: 28,950,509 S775P probably damaging Het
F5 A G 1: 164,183,002 probably benign Het
Inpp4a T C 1: 37,377,569 probably benign Het
Itgad A G 7: 128,189,821 T515A possibly damaging Het
Kcnc2 T A 10: 112,455,926 S340T possibly damaging Het
Krba1 C T 6: 48,415,642 T830I possibly damaging Het
Lrch1 G A 14: 74,795,293 probably benign Het
Mag C T 7: 30,908,452 V295M probably damaging Het
Mmp16 T A 4: 18,093,371 D375E probably benign Het
Olfr1216 A G 2: 89,013,479 V195A probably benign Het
Olfr314 T C 11: 58,787,097 Y288H probably damaging Het
Olfr90 A G 17: 37,085,667 F166S probably damaging Het
Pcyox1l T C 18: 61,707,536 probably benign Het
Secisbp2l A G 2: 125,758,207 S403P probably benign Het
Sh3tc2 T A 18: 62,014,907 H1229Q probably benign Het
Svep1 A C 4: 58,088,245 W1735G possibly damaging Het
Tbxas1 T A 6: 39,021,157 C220S probably benign Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Ywhag A G 5: 135,911,494 V82A probably benign Het
Other mutations in Hdx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Hdx APN X 111582881 missense probably benign 0.21
IGL02436:Hdx APN X 111600748 missense probably damaging 0.98
R2850:Hdx UTSW X 111593023 missense probably benign
Posted On2014-05-07