Incidental Mutation 'IGL02507:Rergl'
ID 296401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rergl
Ensembl Gene ENSMUSG00000092164
Gene Name RERG/RAS-like
Synonyms EG632971
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02507
Quality Score
Status
Chromosome 6
Chromosomal Location 139470180-139478907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139470351 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold B2RVE2
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
Abca13 A G 11: 9,349,388 (GRCm39) Y3654C probably damaging Het
Aldh1l2 A C 10: 83,328,448 (GRCm39) Y756* probably null Het
Arhgef12 T C 9: 42,903,859 (GRCm39) E733G probably damaging Het
Art5 A T 7: 101,748,699 (GRCm39) M1K probably null Het
Atp1a2 A T 1: 172,113,338 (GRCm39) D448E probably damaging Het
Atp6v1b1 C T 6: 83,733,837 (GRCm39) T356I possibly damaging Het
Celsr1 A G 15: 85,784,889 (GRCm39) probably benign Het
Cep89 A G 7: 35,134,990 (GRCm39) Y686C probably damaging Het
Cgrrf1 T A 14: 47,090,901 (GRCm39) Y212* probably null Het
Chrnb1 T C 11: 69,675,916 (GRCm39) Y442C probably damaging Het
Clcn1 T C 6: 42,284,007 (GRCm39) probably benign Het
Clcn7 G A 17: 25,363,443 (GRCm39) V40M probably damaging Het
Cntn1 A G 15: 92,148,860 (GRCm39) Y369C possibly damaging Het
Csmd1 T C 8: 17,584,992 (GRCm39) probably benign Het
Dpy19l2 A T 9: 24,542,563 (GRCm39) C446S probably benign Het
Edem3 G A 1: 151,687,407 (GRCm39) E782K probably benign Het
Efcab15 T A 11: 103,090,275 (GRCm39) Q287L probably damaging Het
Ephb3 T A 16: 21,039,389 (GRCm39) probably benign Het
Fndc4 T C 5: 31,452,090 (GRCm39) D109G probably damaging Het
Fras1 T C 5: 96,805,267 (GRCm39) V1303A possibly damaging Het
Gcn1 T C 5: 115,723,940 (GRCm39) L532P probably benign Het
Gm5150 A G 3: 16,017,485 (GRCm39) L262P probably damaging Het
Hbb-bs T C 7: 103,477,091 (GRCm39) probably benign Het
Krt74 A G 15: 101,669,059 (GRCm39) noncoding transcript Het
Myo1a T C 10: 127,548,478 (GRCm39) V375A probably damaging Het
Nup160 A T 2: 90,560,079 (GRCm39) Q1268L probably benign Het
Or4k42 G A 2: 111,319,768 (GRCm39) T245M possibly damaging Het
Or51ag1 G T 7: 103,155,925 (GRCm39) S76* probably null Het
Or5d16 G A 2: 87,773,262 (GRCm39) R237* probably null Het
Or9s27 T C 1: 92,516,648 (GRCm39) S199P possibly damaging Het
Pan3 T C 5: 147,463,406 (GRCm39) S497P probably damaging Het
Pex5 T C 6: 124,390,264 (GRCm39) T138A probably benign Het
Pik3ap1 A G 19: 41,270,451 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,627,764 (GRCm39) H75L possibly damaging Het
Rag2 A T 2: 101,461,055 (GRCm39) H455L probably damaging Het
Rrn3 A G 16: 13,606,721 (GRCm39) N109S probably benign Het
Scn1a A T 2: 66,108,157 (GRCm39) V1523D probably damaging Het
Sec23a A G 12: 59,053,884 (GRCm39) V38A probably benign Het
Slc15a2 G A 16: 36,602,021 (GRCm39) T92M possibly damaging Het
Slc2a2 A G 3: 28,781,260 (GRCm39) T433A probably benign Het
Sptan1 A G 2: 29,906,067 (GRCm39) D1671G probably damaging Het
Stab1 A G 14: 30,861,167 (GRCm39) probably benign Het
Stau2 A T 1: 16,556,293 (GRCm39) I22N possibly damaging Het
Strn3 A T 12: 51,708,410 (GRCm39) Y123* probably null Het
Tmem205 A G 9: 21,837,607 (GRCm39) V13A possibly damaging Het
Trub1 G A 19: 57,472,009 (GRCm39) probably benign Het
Ttn A G 2: 76,568,699 (GRCm39) V27398A possibly damaging Het
Vill A G 9: 118,899,845 (GRCm39) E343G possibly damaging Het
Zgpat T C 2: 181,008,029 (GRCm39) F189L probably damaging Het
Other mutations in Rergl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Rergl APN 6 139,470,256 (GRCm39) nonsense probably null
IGL01542:Rergl APN 6 139,470,496 (GRCm39) critical splice acceptor site probably null
IGL01761:Rergl APN 6 139,478,863 (GRCm39) missense probably damaging 0.96
IGL02236:Rergl APN 6 139,471,918 (GRCm39) missense probably benign 0.25
IGL02523:Rergl APN 6 139,473,458 (GRCm39) splice site probably benign
R0518:Rergl UTSW 6 139,473,524 (GRCm39) missense probably damaging 1.00
R0521:Rergl UTSW 6 139,473,524 (GRCm39) missense probably damaging 1.00
R2086:Rergl UTSW 6 139,471,832 (GRCm39) missense probably benign
R4629:Rergl UTSW 6 139,478,850 (GRCm39) missense probably damaging 1.00
R5275:Rergl UTSW 6 139,478,819 (GRCm39) critical splice donor site probably null
R6364:Rergl UTSW 6 139,477,746 (GRCm39) missense probably damaging 1.00
R7175:Rergl UTSW 6 139,473,533 (GRCm39) missense probably benign 0.01
R8808:Rergl UTSW 6 139,478,865 (GRCm39) missense probably benign 0.18
R9033:Rergl UTSW 6 139,471,900 (GRCm39) missense probably damaging 1.00
R9403:Rergl UTSW 6 139,471,852 (GRCm39) missense possibly damaging 0.79
R9803:Rergl UTSW 6 139,477,761 (GRCm39) missense probably damaging 1.00
Z1088:Rergl UTSW 6 139,470,424 (GRCm39) nonsense probably null
Posted On 2015-04-16