Incidental Mutation 'IGL02436:Hdx'
ID 293281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdx
Ensembl Gene ENSMUSG00000034551
Gene Name highly divergent homeobox
Synonyms D030011N01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02436
Quality Score
Status
Chromosome X
Chromosomal Location 110484901-110606908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110510445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 512 (D512E)
Ref Sequence ENSEMBL: ENSMUSP00000109049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038472] [ENSMUST00000113422]
AlphaFold Q14B70
Predicted Effect probably damaging
Transcript: ENSMUST00000038472
AA Change: D454E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043482
Gene: ENSMUSG00000034551
AA Change: D454E

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 damaging
Transcript: ENSMUST00000113422
AA Change: D512E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109049
Gene: ENSMUSG00000034551
AA Change: D512E

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Carm1 A T 9: 21,490,758 (GRCm39) R209W probably damaging Het
Clec4a2 A G 6: 123,117,637 (GRCm39) D185G possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dyrk3 A G 1: 131,056,602 (GRCm39) S524P probably benign Het
Gm17175 A T 14: 51,807,108 (GRCm39) probably benign Het
Hs6st2 T G X: 50,768,891 (GRCm39) T275P possibly damaging Het
Hus1 T C 11: 8,956,057 (GRCm39) I159V possibly damaging Het
Lrrc37a T C 11: 103,389,003 (GRCm39) T2141A unknown Het
Ncoa7 A T 10: 30,570,143 (GRCm39) I272N probably damaging Het
Or10ad1b G T 15: 98,125,171 (GRCm39) C118* probably null Het
P3h2 T C 16: 25,815,950 (GRCm39) K188E probably benign Het
Pcsk5 A G 19: 17,542,072 (GRCm39) probably null Het
Pramel13 G T 4: 144,119,539 (GRCm39) P343T possibly damaging Het
Scn1a G A 2: 66,181,497 (GRCm39) P9S probably benign Het
Slc7a9 C A 7: 35,156,478 (GRCm39) L307I probably benign Het
Srebf2 G A 15: 82,081,928 (GRCm39) G87S probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tent5c C A 3: 100,379,823 (GRCm39) R311L probably benign Het
Tex30 T C 1: 44,127,665 (GRCm39) probably null Het
Thoc2l T A 5: 104,669,021 (GRCm39) I1181K probably benign Het
Tnrc6a C T 7: 122,783,438 (GRCm39) R970* probably null Het
Vgll2 A T 10: 51,901,318 (GRCm39) R83* probably null Het
Other mutations in Hdx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Hdx APN X 110,492,578 (GRCm39) missense probably benign 0.21
IGL02036:Hdx APN X 110,569,564 (GRCm39) missense probably benign 0.00
R2850:Hdx UTSW X 110,502,720 (GRCm39) missense probably benign
Posted On 2015-04-16