Incidental Mutation 'IGL02036:Hdx'
ID184519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdx
Ensembl Gene ENSMUSG00000034551
Gene Namehighly divergent homeobox
SynonymsD030011N01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02036
Quality Score
Status
ChromosomeX
Chromosomal Location111569931-111697079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111659867 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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