Incidental Mutation 'IGL01131:Rhox3c'
ID278194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhox3c
Ensembl Gene ENSMUSG00000079636
Gene Namereproductive homeobox 3C
SynonymsEG665203
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01131
Quality Score
Status
ChromosomeX
Chromosomal Location37458585-37473964 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 37470329 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 71 (R71K)
Ref Sequence ENSEMBL: ENSMUSP00000110843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115188] [ENSMUST00000115189] [ENSMUST00000123851] [ENSMUST00000151387]
Predicted Effect probably damaging
Transcript: ENSMUST00000115188
AA Change: R71K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110842
Gene: ENSMUSG00000079636
AA Change: R71K

DomainStartEndE-ValueType
HOX 154 215 5.74e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115189
AA Change: R71K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110843
Gene: ENSMUSG00000079636
AA Change: R71K

DomainStartEndE-ValueType
HOX 154 215 5.74e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123851
AA Change: R28K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121720
Gene: ENSMUSG00000079636
AA Change: R28K

DomainStartEndE-ValueType
SCOP:d1ftt__ 111 141 2e-3 SMART
Blast:HOX 111 146 9e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000151387
AA Change: R28K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000173574
SMART Domains Protein: ENSMUSP00000134224
Gene: ENSMUSG00000079637

DomainStartEndE-ValueType
low complexity region 21 30 N/A INTRINSIC
HOX 60 113 1.13e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Cfap20 T C 8: 95,424,659 D18G probably damaging Het
Cpne3 T C 4: 19,543,318 D160G probably damaging Het
Ercc3 A G 18: 32,269,889 *784W probably null Het
Fam53b T C 7: 132,715,782 E377G probably damaging Het
Far2 T C 6: 148,150,598 V125A possibly damaging Het
Fasn T C 11: 120,814,619 E1192G probably benign Het
Irf5 A G 6: 29,536,103 E372G probably damaging Het
Kif2c C T 4: 117,172,365 V140M probably damaging Het
Klre1 T C 6: 129,584,170 F165L possibly damaging Het
Kmt2a C T 9: 44,821,170 probably benign Het
Lrp2 C T 2: 69,499,239 C1728Y probably damaging Het
Muc4 C A 16: 32,753,901 T1259N possibly damaging Het
Nlrp9b A G 7: 20,023,537 D233G probably damaging Het
Nuf2 T C 1: 169,522,364 probably benign Het
Nynrin A G 14: 55,872,685 K1750E probably damaging Het
Olfr1463 A G 19: 13,234,739 D163G probably benign Het
Parp4 C A 14: 56,585,760 probably benign Het
Rbms1 T C 2: 60,758,836 M287V probably benign Het
Rufy1 A G 11: 50,392,023 L638P probably damaging Het
Slc15a3 G A 19: 10,857,622 probably benign Het
Slc26a9 T C 1: 131,755,542 probably null Het
Slc6a13 A G 6: 121,321,641 Y150C probably damaging Het
Slitrk6 A T 14: 110,751,576 L233Q probably damaging Het
Ugt3a2 T A 15: 9,365,162 I287N probably damaging Het
Unc13c T C 9: 73,564,053 N1778S probably benign Het
Vmn1r212 T C 13: 22,883,159 N335D unknown Het
Wdfy1 C T 1: 79,713,872 V273I probably benign Het
Other mutations in Rhox3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4842:Rhox3c UTSW X 37470424 missense probably damaging 0.99
Posted On2015-04-16