Incidental Mutation 'IGL02507:Rergl'
ID296401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rergl
Ensembl Gene ENSMUSG00000092164
Gene NameRERG/RAS-like
SynonymsEG632971
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02507
Quality Score
Status
Chromosome6
Chromosomal Location139492973-139501976 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 139493353 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 159 (E159V)
Ref Sequence ENSEMBL: ENSMUSP00000131303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170650]
Predicted Effect probably damaging
Transcript: ENSMUST00000170650
AA Change: E159V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131303
Gene: ENSMUSG00000092164
AA Change: E159V

DomainStartEndE-ValueType
Pfam:Ras 5 173 7.7e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T A 11: 103,199,449 Q287L probably damaging Het
Abca13 A G 11: 9,399,388 Y3654C probably damaging Het
Aldh1l2 A C 10: 83,492,584 Y756* probably null Het
Arhgef12 T C 9: 42,992,563 E733G probably damaging Het
Art5 A T 7: 102,099,492 M1K probably null Het
Atp1a2 A T 1: 172,285,771 D448E probably damaging Het
Atp6v1b1 C T 6: 83,756,855 T356I possibly damaging Het
Celsr1 A G 15: 85,900,688 probably benign Het
Cep89 A G 7: 35,435,565 Y686C probably damaging Het
Cgrrf1 T A 14: 46,853,444 Y212* probably null Het
Chrnb1 T C 11: 69,785,090 Y442C probably damaging Het
Clcn1 T C 6: 42,307,073 probably benign Het
Clcn7 G A 17: 25,144,469 V40M probably damaging Het
Cntn1 A G 15: 92,250,979 Y369C possibly damaging Het
Csmd1 T C 8: 17,534,976 probably benign Het
Dpy19l2 A T 9: 24,631,267 C446S probably benign Het
Edem3 G A 1: 151,811,656 E782K probably benign Het
Ephb3 T A 16: 21,220,639 probably benign Het
Fndc4 T C 5: 31,294,746 D109G probably damaging Het
Fras1 T C 5: 96,657,408 V1303A possibly damaging Het
Gcn1l1 T C 5: 115,585,881 L532P probably benign Het
Gm5150 A G 3: 15,963,321 L262P probably damaging Het
Hbb-bs T C 7: 103,827,884 probably benign Het
Krt74 A G 15: 101,760,624 noncoding transcript Het
Myo1a T C 10: 127,712,609 V375A probably damaging Het
Nup160 A T 2: 90,729,735 Q1268L probably benign Het
Olfr1155 G A 2: 87,942,918 R237* probably null Het
Olfr1290 G A 2: 111,489,423 T245M possibly damaging Het
Olfr1412 T C 1: 92,588,926 S199P possibly damaging Het
Olfr610 G T 7: 103,506,718 S76* probably null Het
Pan3 T C 5: 147,526,596 S497P probably damaging Het
Pex5 T C 6: 124,413,305 T138A probably benign Het
Pik3ap1 A G 19: 41,282,012 probably benign Het
Ptchd4 A T 17: 42,316,873 H75L possibly damaging Het
Rag2 A T 2: 101,630,710 H455L probably damaging Het
Rrn3 A G 16: 13,788,857 N109S probably benign Het
Scn1a A T 2: 66,277,813 V1523D probably damaging Het
Sec23a A G 12: 59,007,098 V38A probably benign Het
Slc15a2 G A 16: 36,781,659 T92M possibly damaging Het
Slc2a2 A G 3: 28,727,111 T433A probably benign Het
Sptan1 A G 2: 30,016,055 D1671G probably damaging Het
Stab1 A G 14: 31,139,210 probably benign Het
Stau2 A T 1: 16,486,069 I22N possibly damaging Het
Strn3 A T 12: 51,661,627 Y123* probably null Het
Tmem205 A G 9: 21,926,311 V13A possibly damaging Het
Trub1 G A 19: 57,483,577 probably benign Het
Ttn A G 2: 76,738,355 V27398A possibly damaging Het
Vill A G 9: 119,070,777 E343G possibly damaging Het
Zgpat T C 2: 181,366,236 F189L probably damaging Het
Other mutations in Rergl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Rergl APN 6 139493258 nonsense probably null
IGL01542:Rergl APN 6 139493498 critical splice acceptor site probably null
IGL01761:Rergl APN 6 139501865 missense probably damaging 0.96
IGL02236:Rergl APN 6 139494920 missense probably benign 0.25
IGL02523:Rergl APN 6 139496460 splice site probably benign
R0518:Rergl UTSW 6 139496526 missense probably damaging 1.00
R0521:Rergl UTSW 6 139496526 missense probably damaging 1.00
R2086:Rergl UTSW 6 139494834 missense probably benign
R4629:Rergl UTSW 6 139501852 missense probably damaging 1.00
R5275:Rergl UTSW 6 139501821 critical splice donor site probably null
R6364:Rergl UTSW 6 139500748 missense probably damaging 1.00
R7175:Rergl UTSW 6 139496535 missense probably benign 0.01
R8808:Rergl UTSW 6 139501867 missense probably benign 0.18
Z1088:Rergl UTSW 6 139493426 nonsense probably null
Posted On2015-04-16