Incidental Mutation 'R4927:Homez'
ID 380931
Institutional Source Beutler Lab
Gene Symbol Homez
Ensembl Gene ENSMUSG00000057156
Gene Name homeodomain leucine zipper-encoding gene
Synonyms
MMRRC Submission 042528-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4927 (G1)
Quality Score 173
Status Validated
Chromosome 14
Chromosomal Location 55090193-55108418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55095264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 148 (E148G)
Ref Sequence ENSEMBL: ENSMUSP00000117828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081162] [ENSMUST00000142283] [ENSMUST00000146642] [ENSMUST00000176259] [ENSMUST00000218311] [ENSMUST00000219350] [ENSMUST00000219519] [ENSMUST00000220122] [ENSMUST00000220403] [ENSMUST00000220208]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000081162
AA Change: E148G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079929
Gene: ENSMUSG00000057156
AA Change: E148G

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 possibly damaging
Transcript: ENSMUST00000142283
AA Change: E148G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117828
Gene: ENSMUSG00000057156
AA Change: E148G

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: ENSMUST00000220403
Predicted Effect probably benign
Transcript: ENSMUST00000220208
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adamts2 T A 11: 50,694,639 (GRCm39) L1142* probably null Het
Arl13b C A 16: 62,622,150 (GRCm39) G381V probably damaging Het
Ash1l G T 3: 88,892,641 (GRCm39) V1507F probably damaging Het
Babam2 T A 5: 31,859,408 (GRCm39) F38I probably benign Het
Bend4 T C 5: 67,557,619 (GRCm39) Y399C probably damaging Het
Btn1a1 A T 13: 23,644,794 (GRCm39) probably null Het
Cacna1g A T 11: 94,319,973 (GRCm39) L1401Q probably damaging Het
Ccdc192 C T 18: 57,863,888 (GRCm39) Q213* probably null Het
Cep192 T C 18: 67,968,195 (GRCm39) V893A probably benign Het
Cnot10 A T 9: 114,447,012 (GRCm39) Y355N probably damaging Het
Col6a5 G C 9: 105,811,163 (GRCm39) S785R unknown Het
Cpa3 A G 3: 20,276,303 (GRCm39) L310P probably damaging Het
Cux2 A G 5: 122,015,152 (GRCm39) I247T probably benign Het
Dab1 A G 4: 104,561,449 (GRCm39) T245A probably benign Het
Dmrta1 A T 4: 89,579,985 (GRCm39) D315V probably damaging Het
Dnah12 T A 14: 26,583,762 (GRCm39) L599* probably null Het
Dync1h1 T C 12: 110,629,289 (GRCm39) I4231T possibly damaging Het
Fat1 T C 8: 45,476,000 (GRCm39) V1659A probably damaging Het
Flot2 G A 11: 77,949,888 (GRCm39) V406M probably damaging Het
Galnt2 A G 8: 125,032,362 (GRCm39) D75G probably damaging Het
Gcnt3 A T 9: 69,942,464 (GRCm39) C35S probably damaging Het
Gp2 A G 7: 119,052,118 (GRCm39) F199L probably benign Het
Gramd2b C T 18: 56,618,523 (GRCm39) P244S probably damaging Het
Hhipl1 T C 12: 108,278,203 (GRCm39) L177P probably damaging Het
Kcnab3 G A 11: 69,217,572 (GRCm39) C22Y possibly damaging Het
Kcnh8 C A 17: 53,185,009 (GRCm39) S430R probably damaging Het
Kcnn2 T C 18: 45,692,798 (GRCm39) C125R probably benign Het
Klhl7 G A 5: 24,346,185 (GRCm39) R277Q possibly damaging Het
Krt78 A G 15: 101,855,334 (GRCm39) S826P probably benign Het
Krtap14 T C 16: 88,622,919 (GRCm39) Y20C possibly damaging Het
Lrcol1 A G 5: 110,502,163 (GRCm39) probably null Het
Lrrc10b G A 19: 10,434,226 (GRCm39) P152S probably damaging Het
Lrrn3 C G 12: 41,503,124 (GRCm39) D398H probably damaging Het
Map3k19 T C 1: 127,749,932 (GRCm39) I1140V probably benign Het
Mos G A 4: 3,871,093 (GRCm39) T241M probably damaging Het
Nol8 A G 13: 49,807,901 (GRCm39) E39G possibly damaging Het
Olfm1 T G 2: 28,104,798 (GRCm39) S212A probably benign Het
Or2ak6 T A 11: 58,592,633 (GRCm39) F35L probably damaging Het
Pip4p2 G T 4: 14,912,458 (GRCm39) R189L probably damaging Het
Plec G T 15: 76,061,162 (GRCm39) T2947K probably damaging Het
Pramel27 A T 4: 143,578,187 (GRCm39) Q149L probably damaging Het
Rasgrp3 A G 17: 75,823,350 (GRCm39) M474V probably benign Het
Ryr1 T C 7: 28,719,408 (GRCm39) Y4333C unknown Het
Scrn2 G C 11: 96,924,326 (GRCm39) probably null Het
Slc22a12 C A 19: 6,587,791 (GRCm39) V388L probably benign Het
Slc4a11 A G 2: 130,526,866 (GRCm39) V754A probably damaging Het
Slco2b1 A G 7: 99,335,195 (GRCm39) F195S probably damaging Het
Slfn9 A C 11: 82,872,216 (GRCm39) M840R possibly damaging Het
Speer4b T C 5: 27,706,263 (GRCm39) N35D probably damaging Het
Taf1d T A 9: 15,221,250 (GRCm39) D185E probably damaging Het
Taok2 A G 7: 126,475,213 (GRCm39) L245P probably damaging Het
Tent4a A T 13: 69,651,019 (GRCm39) probably null Het
Ticam2 T C 18: 46,693,846 (GRCm39) I80M probably damaging Het
Tmem268 G A 4: 63,502,164 (GRCm39) V331I probably benign Het
Tsga10 T C 1: 37,840,931 (GRCm39) E425G probably damaging Het
Ttc7 A G 17: 87,654,133 (GRCm39) probably null Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Unc13a T C 8: 72,107,489 (GRCm39) H601R probably damaging Het
Vmn2r102 A T 17: 19,880,661 (GRCm39) M1L probably benign Het
Vmn2r120 G T 17: 57,816,125 (GRCm39) N743K probably damaging Het
Wnt6 C A 1: 74,823,295 (GRCm39) probably null Het
Wnt6 A C 1: 74,823,296 (GRCm39) probably null Het
Wnt8a T A 18: 34,680,525 (GRCm39) C297S probably damaging Het
Zfp786 T C 6: 47,797,087 (GRCm39) Q617R probably benign Het
Zfp91 A G 19: 12,753,774 (GRCm39) probably null Het
Zw10 T A 9: 48,979,983 (GRCm39) F371L probably damaging Het
Other mutations in Homez
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Homez APN 14 55,094,575 (GRCm39) nonsense probably null
IGL01780:Homez APN 14 55,095,355 (GRCm39) missense probably damaging 1.00
IGL01951:Homez APN 14 55,095,633 (GRCm39) missense probably damaging 1.00
IGL02466:Homez APN 14 55,095,559 (GRCm39) missense probably damaging 1.00
R1528:Homez UTSW 14 55,095,162 (GRCm39) missense probably benign 0.13
R1702:Homez UTSW 14 55,094,452 (GRCm39) missense probably damaging 0.99
R1804:Homez UTSW 14 55,094,598 (GRCm39) missense probably damaging 1.00
R2422:Homez UTSW 14 55,095,031 (GRCm39) missense probably benign 0.02
R3121:Homez UTSW 14 55,094,778 (GRCm39) missense probably benign
R4589:Homez UTSW 14 55,094,487 (GRCm39) missense probably damaging 0.99
R5240:Homez UTSW 14 55,095,531 (GRCm39) missense probably damaging 1.00
R5958:Homez UTSW 14 55,094,298 (GRCm39) missense probably benign 0.17
R7080:Homez UTSW 14 55,095,112 (GRCm39) missense probably benign 0.02
R7256:Homez UTSW 14 55,094,877 (GRCm39) missense probably damaging 1.00
R7815:Homez UTSW 14 55,095,675 (GRCm39) missense probably benign 0.02
R8017:Homez UTSW 14 55,095,689 (GRCm39) missense probably benign 0.00
R8019:Homez UTSW 14 55,095,689 (GRCm39) missense probably benign 0.00
T0975:Homez UTSW 14 55,094,796 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGGAAGCAGTCTTTCCACATGAC -3'
(R):5'- GGCATTAGCTGGTCATCTGAAG -3'

Sequencing Primer
(F):5'- TTCCACATGACTGGTCAGGAC -3'
(R):5'- CATTAGCTGGTCATCTGAAGAGATAG -3'
Posted On 2016-04-15