Incidental Mutation 'IGL02547:Retreg3'
ID 297891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Retreg3
Ensembl Gene ENSMUSG00000017802
Gene Name reticulophagy regulator family member 3
Synonyms Fam134c, 1300010M03Rik, 4933404C01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02547
Quality Score
Chromosome 11
Chromosomal Location 101096322-101119893 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 101106378 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 92 (L92*)
Ref Sequence ENSEMBL: ENSMUSP00000017946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000107295]
AlphaFold Q9CQV4
Predicted Effect probably null
Transcript: ENSMUST00000017946
AA Change: L92*
SMART Domains Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: L92*

low complexity region 2 18 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 186 208 N/A INTRINSIC
low complexity region 376 397 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107295
SMART Domains Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802

transmembrane domain 5 27 N/A INTRINSIC
low complexity region 195 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154513
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 (GRCm38) probably null Het
Akap6 T A 12: 53,140,696 (GRCm38) L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 (GRCm38) probably benign Het
Atp5o A T 16: 91,928,961 (GRCm38) Y48N probably damaging Het
Birc6 T G 17: 74,579,645 (GRCm38) M656R probably benign Het
Camkk1 A G 11: 73,038,433 (GRCm38) R455G probably benign Het
Casr A T 16: 36,515,674 (GRCm38) M91K probably benign Het
Ccdc28a A T 10: 18,214,146 (GRCm38) V124D possibly damaging Het
Ccnh T C 13: 85,202,504 (GRCm38) probably benign Het
Cdc37 G T 9: 21,139,966 (GRCm38) probably benign Het
Cdon A G 9: 35,478,654 (GRCm38) D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 (GRCm38) R351G probably benign Het
Dclk3 T C 9: 111,469,023 (GRCm38) I545T probably damaging Het
Dock4 A G 12: 40,737,479 (GRCm38) M798V probably benign Het
Gas7 A T 11: 67,665,435 (GRCm38) Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 (GRCm38) D573G probably damaging Het
Gm4758 A T 16: 36,312,526 (GRCm38) probably benign Het
Gm6614 A T 6: 141,990,390 (GRCm38) L323Q probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm38) probably null Het
Idh3a T A 9: 54,592,395 (GRCm38) V31D probably benign Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,218,510 (GRCm38) C497R probably damaging Het
Itm2c T C 1: 85,906,461 (GRCm38) Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 (GRCm38) D98G probably damaging Het
Mstn A T 1: 53,064,125 (GRCm38) I207F probably benign Het
Muc15 A G 2: 110,731,305 (GRCm38) R29G probably damaging Het
Neb T A 2: 52,188,730 (GRCm38) T142S probably damaging Het
Nipbl G A 15: 8,351,598 (GRCm38) T570I probably benign Het
Nr5a2 T A 1: 136,940,927 (GRCm38) M196L probably benign Het
Nrp1 C A 8: 128,493,031 (GRCm38) F643L probably benign Het
Olfr1098 A G 2: 86,923,028 (GRCm38) F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 (GRCm38) M1L probably benign Het
Olfr600 A G 7: 103,346,244 (GRCm38) F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 (GRCm38) I16T probably benign Het
Osbpl9 C T 4: 109,068,483 (GRCm38) W446* probably null Het
Pced1a T C 2: 130,419,707 (GRCm38) D342G possibly damaging Het
Prkcd C A 14: 30,599,469 (GRCm38) W555L probably damaging Het
Prpf31 T C 7: 3,630,899 (GRCm38) S78P probably benign Het
Psg27 T C 7: 18,560,628 (GRCm38) T285A probably benign Het
Rmdn1 A G 4: 19,605,501 (GRCm38) K282E possibly damaging Het
Sept8 G T 11: 53,537,265 (GRCm38) R302L probably damaging Het
Serpina3a A G 12: 104,116,543 (GRCm38) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm38) probably benign Het
Spats1 A T 17: 45,474,817 (GRCm38) probably benign Het
Tcerg1l C T 7: 138,248,371 (GRCm38) probably null Het
Ttn A G 2: 76,729,386 (GRCm38) V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 (GRCm38) D41A possibly damaging Het
Vps13c T G 9: 67,908,019 (GRCm38) I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 (GRCm38) H683Q probably benign Het
Zfp518a G A 19: 40,914,617 (GRCm38) G997R probably damaging Het
Zfp629 T C 7: 127,611,674 (GRCm38) probably null Het
Other mutations in Retreg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Retreg3 APN 11 101,100,925 (GRCm38) nonsense probably null
IGL03160:Retreg3 APN 11 101,099,675 (GRCm38) missense probably benign 0.03
IGL03405:Retreg3 APN 11 101,100,969 (GRCm38) missense probably damaging 1.00
R0646:Retreg3 UTSW 11 101,098,629 (GRCm38) unclassified probably benign
R1625:Retreg3 UTSW 11 101,102,049 (GRCm38) start codon destroyed probably null
R2215:Retreg3 UTSW 11 101,119,633 (GRCm38) nonsense probably null
R4361:Retreg3 UTSW 11 101,103,887 (GRCm38) splice site probably null
R5586:Retreg3 UTSW 11 101,106,339 (GRCm38) missense probably damaging 1.00
R5791:Retreg3 UTSW 11 101,100,943 (GRCm38) missense probably damaging 0.99
R6026:Retreg3 UTSW 11 101,106,400 (GRCm38) missense probably damaging 0.99
R6179:Retreg3 UTSW 11 101,103,895 (GRCm38) start gained probably benign
R6209:Retreg3 UTSW 11 101,119,700 (GRCm38) missense probably benign 0.27
R6869:Retreg3 UTSW 11 101,119,818 (GRCm38) start gained probably benign
R7553:Retreg3 UTSW 11 101,106,390 (GRCm38) missense possibly damaging 0.86
R7615:Retreg3 UTSW 11 101,102,980 (GRCm38) missense probably damaging 1.00
R8809:Retreg3 UTSW 11 101,102,026 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16