Incidental Mutation 'R7815:Homez'
ID 601489
Institutional Source Beutler Lab
Gene Symbol Homez
Ensembl Gene ENSMUSG00000057156
Gene Name homeodomain leucine zipper-encoding gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7815 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55090193-55108418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55095675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 11 (N11S)
Ref Sequence ENSEMBL: ENSMUSP00000114619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081162] [ENSMUST00000142283] [ENSMUST00000146642] [ENSMUST00000176259] [ENSMUST00000218311] [ENSMUST00000219350] [ENSMUST00000219519] [ENSMUST00000220122] [ENSMUST00000220208] [ENSMUST00000220403]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081162
AA Change: N11S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000079929
Gene: ENSMUSG00000057156
AA Change: N11S

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 benign
Transcript: ENSMUST00000142283
AA Change: N11S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117828
Gene: ENSMUSG00000057156
AA Change: N11S

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
AA Change: N11S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000114619
Gene: ENSMUSG00000057156
AA Change: N11S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,818,866 (GRCm39) D1285G probably benign Het
Abcc9 A G 6: 142,598,331 (GRCm39) V669A probably damaging Het
Ajap1 C A 4: 153,517,288 (GRCm39) G18C probably damaging Het
Alms1 G T 6: 85,592,340 (GRCm39) M397I probably benign Het
Ampd2 A T 3: 107,982,247 (GRCm39) M794K probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Casz1 A T 4: 149,013,762 (GRCm39) I109F possibly damaging Het
Ces5a G A 8: 94,247,623 (GRCm39) S297F possibly damaging Het
Col7a1 A G 9: 108,798,633 (GRCm39) D1762G probably damaging Het
Dsp A T 13: 38,375,446 (GRCm39) Y1077F probably benign Het
Eef2k A G 7: 120,457,793 (GRCm39) N51D probably benign Het
Erbb4 A G 1: 68,081,885 (GRCm39) Y1050H probably damaging Het
Fpgt A T 3: 154,792,289 (GRCm39) S579R probably benign Het
Gabra4 T A 5: 71,815,152 (GRCm39) M1L possibly damaging Het
Galk2 G A 2: 125,817,321 (GRCm39) S370N probably damaging Het
Gpr155 T A 2: 73,192,904 (GRCm39) T516S probably benign Het
Hspg2 G A 4: 137,239,775 (GRCm39) G494D probably damaging Het
Htr3b C T 9: 48,856,833 (GRCm39) R215Q probably benign Het
Igfbp4 A G 11: 98,932,654 (GRCm39) E111G probably benign Het
Igkv8-19 T C 6: 70,318,420 (GRCm39) T5A probably benign Het
Insrr A G 3: 87,716,002 (GRCm39) K566E probably damaging Het
Iqsec3 A G 6: 121,450,317 (GRCm39) V69A probably benign Het
Kdm5d T C Y: 940,702 (GRCm39) V1071A probably damaging Het
Kif28 A G 1: 179,563,548 (GRCm39) C143R probably damaging Het
Kpna6 T C 4: 129,551,590 (GRCm39) M65V probably benign Het
L3mbtl3 T C 10: 26,156,276 (GRCm39) S669G unknown Het
Man1a2 A T 3: 100,563,495 (GRCm39) I50N probably damaging Het
Map3k11 A T 19: 5,745,667 (GRCm39) M356L possibly damaging Het
Meioc A T 11: 102,566,414 (GRCm39) N677Y probably damaging Het
Myom3 A T 4: 135,528,674 (GRCm39) K1108M possibly damaging Het
Nav1 C T 1: 135,512,377 (GRCm39) E228K possibly damaging Het
Ncapd3 G A 9: 26,974,736 (GRCm39) W736* probably null Het
Nfkb1 T C 3: 135,309,552 (GRCm39) D514G probably damaging Het
Nnt T A 13: 119,494,111 (GRCm39) T657S possibly damaging Het
Or4k5 A G 14: 50,386,253 (GRCm39) F26S probably benign Het
Or51b4 A G 7: 103,530,992 (GRCm39) S153P probably benign Het
Oser1 A T 2: 163,253,336 (GRCm39) S58T possibly damaging Het
Pcdha5 T A 18: 37,094,556 (GRCm39) I355N possibly damaging Het
Pllp C G 8: 95,402,804 (GRCm39) G99A probably damaging Het
Pram1 A G 17: 33,861,106 (GRCm39) N509S probably benign Het
Prkd1 A C 12: 50,472,300 (GRCm39) N204K probably damaging Het
Prss23 G A 7: 89,159,253 (GRCm39) P272L probably damaging Het
Pxdn T C 12: 30,055,824 (GRCm39) F1057L probably damaging Het
Rapgef5 T A 12: 117,719,702 (GRCm39) S777R probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rfx3 A T 19: 27,803,448 (GRCm39) M265K probably benign Het
S100a7a C A 3: 90,565,119 (GRCm39) H105N probably benign Het
Serpinb3b T C 1: 107,084,625 (GRCm39) D132G probably damaging Het
Sp7 T A 15: 102,274,822 (GRCm39) probably benign Het
Tacstd2 A G 6: 67,512,140 (GRCm39) F184S possibly damaging Het
Trdc C A 14: 54,381,259 (GRCm39) probably benign Het
Trpa1 T A 1: 14,974,486 (GRCm39) H232L probably benign Het
Trpc3 G T 3: 36,709,294 (GRCm39) T394K probably benign Het
Tuba3b G A 6: 145,566,847 (GRCm39) V363I possibly damaging Het
Tubb2a C A 13: 34,258,962 (GRCm39) R276L probably benign Het
Ubap2l A T 3: 89,951,071 (GRCm39) L72* probably null Het
Vps13a A T 19: 16,702,936 (GRCm39) D672E probably damaging Het
Wdr26 A G 1: 181,036,638 (GRCm39) V166A probably benign Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Xirp2 G A 2: 67,339,756 (GRCm39) G666R probably damaging Het
Zfp131 T C 13: 120,237,516 (GRCm39) K247E 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
R4927:Homez UTSW 14 55,095,264 (GRCm39) missense possibly damaging 0.77
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
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'- GGCCATGAACCAGGTCTTTAC -3'
(R):5'- CAGGTTCTGATGACTTGACAAGATTG -3'

Sequencing Primer
(F):5'- CTCCATCTGCAGCCCATG -3'
(R):5'- GGTTTCAGCAGTTTGGCA -3'
Posted On 2019-12-03