Incidental Mutation 'IGL01780:Homez'
ID154144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Homez
Ensembl Gene ENSMUSG00000057156
Gene Namehomeodomain leucine zipper-encoding gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.187) question?
Stock #IGL01780
Quality Score
Status
Chromosome14
Chromosomal Location54852736-54870961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54857898 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 118 (T118A)
Ref Sequence ENSEMBL: ENSMUSP00000117828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081162] [ENSMUST00000142283] [ENSMUST00000146642] [ENSMUST00000176259] [ENSMUST00000218311] [ENSMUST00000219350] [ENSMUST00000219519] [ENSMUST00000220122] [ENSMUST00000220208] [ENSMUST00000220403]
Predicted Effect probably damaging
Transcript: ENSMUST00000081162
AA Change: T118A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079929
Gene: ENSMUSG00000057156
AA Change: T118A

DomainStartEndE-ValueType
HOX 37 93 1.7e-1 SMART
low complexity region 244 261 N/A INTRINSIC
HOX 327 388 2.24e-6 SMART
Pfam:Homez 421 477 3.6e-25 PFAM
low complexity region 481 513 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000142283
AA Change: T118A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117828
Gene: ENSMUSG00000057156
AA Change: T118A

DomainStartEndE-ValueType
HOX 37 93 1.7e-1 SMART
low complexity region 244 261 N/A INTRINSIC
HOX 327 388 2.24e-6 SMART
Pfam:Homez 421 477 7.3e-31 PFAM
low complexity region 481 513 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146642
SMART Domains Protein: ENSMUSP00000114619
Gene: ENSMUSG00000057156

DomainStartEndE-ValueType
HOX 37 93 1.7e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176259
SMART Domains Protein: ENSMUSP00000135648
Gene: ENSMUSG00000057156

DomainStartEndE-ValueType
Blast:HOX 1 37 7e-20 BLAST
PDB:2ECC|A 1 42 1e-24 PDB
Pfam:Homez 70 126 3.4e-26 PFAM
low complexity region 130 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218311
Predicted Effect probably benign
Transcript: ENSMUST00000219350
Predicted Effect probably benign
Transcript: ENSMUST00000219496
Predicted Effect probably benign
Transcript: ENSMUST00000219519
Predicted Effect probably benign
Transcript: ENSMUST00000220122
Predicted Effect probably benign
Transcript: ENSMUST00000220208
Predicted Effect probably benign
Transcript: ENSMUST00000220403
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,210,125 N648D probably benign Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
BC024139 C A 15: 76,121,143 L506F probably benign Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Emb A G 13: 117,249,471 probably benign Het
Eml6 T C 11: 29,805,175 M867V probably benign Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gmds A T 13: 32,225,162 Y106* probably null Het
Kcnh7 G A 2: 62,837,163 T344I probably benign Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Krt13 A T 11: 100,119,713 L207Q probably damaging Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Lrp2 A C 2: 69,486,184 V2151G possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mrgpra6 T C 7: 47,188,749 T234A probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1132 T C 2: 87,635,080 I222M possibly damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Patl2 A C 2: 122,121,846 S468R probably damaging Het
Pcdhb1 T C 18: 37,266,522 S509P probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rasgrp1 A G 2: 117,284,878 L743P probably benign Het
Rpusd4 G A 9: 35,268,424 R71Q probably damaging Het
Rsf1 C T 7: 97,664,770 probably benign Het
Scaf11 T C 15: 96,420,844 T280A possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tenm2 A G 11: 36,046,941 M1635T probably benign Het
Uhrf1bp1 T C 17: 27,893,500 L1221P probably damaging Het
Vmn1r195 A G 13: 22,279,085 T242A probably benign Het
Zfp423 A G 8: 87,781,508 V736A probably damaging Het
Other mutations in Homez
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Homez APN 14 54857118 nonsense probably null
IGL01951:Homez APN 14 54858176 missense probably damaging 1.00
IGL02466:Homez APN 14 54858102 missense probably damaging 1.00
R1528:Homez UTSW 14 54857705 missense probably benign 0.13
R1702:Homez UTSW 14 54856995 missense probably damaging 0.99
R1804:Homez UTSW 14 54857141 missense probably damaging 1.00
R2422:Homez UTSW 14 54857574 missense probably benign 0.02
R3121:Homez UTSW 14 54857321 missense probably benign
R4589:Homez UTSW 14 54857030 missense probably damaging 0.99
R4927:Homez UTSW 14 54857807 missense possibly damaging 0.77
R5240:Homez UTSW 14 54858074 missense probably damaging 1.00
R5958:Homez UTSW 14 54856841 missense probably benign 0.17
R7080:Homez UTSW 14 54857655 missense not run
T0975:Homez UTSW 14 54857339 missense possibly damaging 0.85
Posted On2014-02-04