Incidental Mutation 'IGL00334:Hdx'
ID11222
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 #IGL00334
Quality Score
Status
ChromosomeX
Chromosomal Location111569931-111697079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111582881 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 623 (I623F)
Ref Sequence ENSEMBL: ENSMUSP00000109049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038472] [ENSMUST00000113422]
Predicted Effect probably benign
Transcript: ENSMUST00000038472
AA Change: I565F

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043482
Gene: ENSMUSG00000034551
AA Change: I565F

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: I623F

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109049
Gene: ENSMUSG00000034551
AA Change: I623F

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Clcn6 C A 4: 148,017,902 probably null Het
Cyb5r3 C A 15: 83,160,404 A138S probably benign Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Drd4 A G 7: 141,292,183 N49S probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
Gm11565 T A 11: 99,915,195 C138S possibly damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Jmjd4 T A 11: 59,455,314 M331K probably damaging Het
Kdelc2 C A 9: 53,398,028 probably benign Het
Kdelc2 T A 9: 53,398,030 probably benign Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tbkbp1 T A 11: 97,137,648 probably benign Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Tmem120b G T 5: 123,115,167 E210D probably damaging Het
Tmem120b A T 5: 123,115,166 probably null Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Hdx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02036:Hdx APN X 111659867 missense probably benign 0.00
IGL02436:Hdx APN X 111600748 missense probably damaging 0.98
R2850:Hdx UTSW X 111593023 missense probably benign
Posted On2012-12-06