Incidental Mutation 'IGL02746:RP24-77E13.10'
ID306030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol RP24-77E13.10
Ensembl Gene ENSMUSG00000110105
Gene Name
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.462) question?
Stock #IGL02746
Quality Score
Status
Chromosome7
Chromosomal Location (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7240179 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 24 (F24S)
Ref Sequence ENSEMBL: ENSMUSP00000147617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170922] [ENSMUST00000173842] [ENSMUST00000209325] [ENSMUST00000209833] [ENSMUST00000210333]
Predicted Effect probably damaging
Transcript: ENSMUST00000170922
AA Change: F444S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131990
Gene: ENSMUSG00000095730
AA Change: F444S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 73 469 2e-34 PFAM
Pfam:NCD3G 512 565 1.4e-20 PFAM
Pfam:7tm_3 598 833 2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173842
Predicted Effect probably benign
Transcript: ENSMUST00000209325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209788
Predicted Effect probably benign
Transcript: ENSMUST00000209833
Predicted Effect probably damaging
Transcript: ENSMUST00000210333
AA Change: F24S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect silent
Transcript: ENSMUST00000211433
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,669,503 probably benign Het
Adck5 A T 15: 76,589,154 M68L probably benign Het
Aox3 T C 1: 58,183,542 S1165P possibly damaging Het
Arhgap23 A G 11: 97,454,204 probably benign Het
Brdt T C 5: 107,370,324 L771P probably benign Het
Ccdc134 T A 15: 82,131,737 probably benign Het
Cdc42bpa T A 1: 180,111,747 D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,970,220 T106A probably damaging Het
Cox10 G A 11: 63,964,531 probably benign Het
Cubn C A 2: 13,445,040 C891F probably damaging Het
Cyb5rl A G 4: 107,068,639 E6G probably benign Het
Dhrs2 T C 14: 55,241,171 S258P probably damaging Het
Dnah10 T C 5: 124,730,086 L145P possibly damaging Het
Epc1 A G 18: 6,454,317 I129T probably benign Het
Gkn3 A G 6: 87,387,357 probably benign Het
Gls2 A G 10: 128,200,956 D202G probably damaging Het
Golph3 C T 15: 12,349,415 R174W probably damaging Het
Gpatch4 A C 3: 88,054,391 E119A possibly damaging Het
Hemgn A G 4: 46,400,740 L40P probably damaging Het
Ifi27l2b A T 12: 103,451,234 D231E unknown Het
Klf12 T C 14: 99,900,220 I297V probably benign Het
Lzts3 T C 2: 130,636,341 N165S probably damaging Het
Nlrp4e G A 7: 23,321,839 V584I probably benign Het
Npas4 T C 19: 4,986,667 T490A probably damaging Het
Pikfyve C A 1: 65,234,272 H615Q probably damaging Het
Plce1 T A 19: 38,698,472 L608Q probably damaging Het
Pou2f3 T G 9: 43,146,846 Q67H probably benign Het
Rev3l T C 10: 39,824,589 L1694P probably damaging Het
Rpl4 A G 9: 64,175,650 T117A probably benign Het
Scn5a T C 9: 119,550,637 N194D probably damaging Het
Sec16b T A 1: 157,546,289 probably benign Het
Slc12a5 A T 2: 164,974,916 M97L probably benign Het
Stard13 A G 5: 151,046,857 probably benign Het
Stau1 A C 2: 166,954,898 probably null Het
Thg1l A T 11: 45,948,227 C219* probably null Het
Togaram1 G T 12: 64,966,496 E174* probably null Het
Vmn1r237 T C 17: 21,314,218 S68P possibly damaging Het
Vmn2r3 A T 3: 64,259,818 S631T possibly damaging Het
Other mutations in RP24-77E13.10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01828:RP24-77E13.10 APN 7 7231323 unclassified probably null
Posted On2015-04-16