Incidental Mutation 'IGL02946:Rhox13'
ID364748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhox13
Ensembl Gene ENSMUSG00000050197
Gene Namereproductive homeobox 13
Synonyms1700123J19Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02946
Quality Score
Status
ChromosomeX
Chromosomal Location38121219-38129967 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38129775 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 205 (K205E)
Ref Sequence ENSEMBL: ENSMUSP00000117271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000152730]
Predicted Effect probably damaging
Transcript: ENSMUST00000152730
AA Change: K205E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117271
Gene: ENSMUSG00000050197
AA Change: K205E

DomainStartEndE-ValueType
low complexity region 35 49 N/A INTRINSIC
low complexity region 65 102 N/A INTRINSIC
low complexity region 106 128 N/A INTRINSIC
HOX 145 210 1.87e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Hemizygous knockout males show a number of histological abnormalities in the testes and a temporary delay in first wave spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 110,028,215 probably benign Het
Actr3b T C 5: 25,848,483 I270T possibly damaging Het
Adgrf2 T C 17: 42,710,493 Y480C probably damaging Het
Arhgap27 T C 11: 103,338,348 T514A probably damaging Het
BC031181 C T 18: 75,008,665 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ccm2 G A 11: 6,596,195 R335H probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Crabp1 T C 9: 54,764,948 F16S possibly damaging Het
Crmp1 C T 5: 37,284,080 A502V probably damaging Het
Ehhadh A T 16: 21,762,922 V440D probably damaging Het
Fam129a A T 1: 151,649,425 I194F probably damaging Het
Galnt3 T A 2: 66,095,218 I392L probably damaging Het
Gm12689 T A 4: 99,296,253 N114K unknown Het
Hspa2 A G 12: 76,405,173 T214A probably damaging Het
Itga7 T C 10: 128,934,083 I32T probably benign Het
Itgal A G 7: 127,314,368 S682G probably damaging Het
Kctd1 C T 18: 14,973,979 probably null Het
Lrp1b T A 2: 41,312,559 D439V probably damaging Het
Mdn1 A G 4: 32,734,366 K3258E probably damaging Het
Mgat4c T C 10: 102,389,253 S443P probably benign Het
Mylk G A 16: 34,921,788 G890E probably benign Het
Mylk2 T A 2: 152,919,210 L446* probably null Het
Olfr1395 T G 11: 49,148,892 F212V probably damaging Het
Pi4k2b T C 5: 52,753,207 F278L probably damaging Het
Pitpnm3 A G 11: 72,092,552 S84P probably benign Het
Plxna2 T C 1: 194,749,309 probably benign Het
Prr5l C A 2: 101,772,184 probably null Het
Ptprs T C 17: 56,424,032 T719A probably benign Het
Rasa3 T C 8: 13,598,280 H128R probably benign Het
Rif1 C A 2: 52,110,125 S1197* probably null Het
Sgta A G 10: 81,049,778 probably benign Het
Slc25a5 T A X: 36,797,853 M239K probably damaging Het
Stil T A 4: 115,029,913 H734Q probably benign Het
Stk32b T C 5: 37,531,539 probably benign Het
Ubr4 T G 4: 139,425,295 F1999C probably damaging Het
Wfdc2 A C 2: 164,564,089 T86P probably benign Het
Zfp407 T C 18: 84,560,709 S760G probably damaging Het
Zfp668 A T 7: 127,866,518 L498Q possibly damaging Het
Other mutations in Rhox13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2258:Rhox13 UTSW X 38121344 missense unknown
Posted On2015-12-18