Incidental Mutation 'IGL02547:Retreg3'
ID297891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Retreg3
Ensembl Gene ENSMUSG00000017802
Gene Namereticulophagy regulator family member 3
SynonymsFam134c, 1300010M03Rik, 4933404C01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02547
Quality Score
Status
Chromosome11
Chromosomal Location101096322-101119893 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 101106378 bp
ZygosityHeterozygous
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]
Predicted Effect probably null
Transcript: ENSMUST00000017946
AA Change: L92*
SMART Domains Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: L92*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Camkk1 A G 11: 73,038,433 R455G probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccdc28a A T 10: 18,214,146 V124D possibly damaging Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 R351G probably benign Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gas7 A T 11: 67,665,435 Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Il3ra A T 14: 14,351,970 T247S probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Itm2c T C 1: 85,906,461 Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Prpf31 T C 7: 3,630,899 S78P probably benign Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 D41A possibly damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 probably null Het
Other mutations in Retreg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Retreg3 APN 11 101100925 nonsense probably null
IGL03160:Retreg3 APN 11 101099675 missense probably benign 0.03
IGL03405:Retreg3 APN 11 101100969 missense probably damaging 1.00
R0646:Retreg3 UTSW 11 101098629 unclassified probably benign
R1625:Retreg3 UTSW 11 101102049 start codon destroyed probably null
R2215:Retreg3 UTSW 11 101119633 nonsense probably null
R4361:Retreg3 UTSW 11 101103887 splice site probably null
R5586:Retreg3 UTSW 11 101106339 missense probably damaging 1.00
R5791:Retreg3 UTSW 11 101100943 missense probably damaging 0.99
R6026:Retreg3 UTSW 11 101106400 missense probably damaging 0.99
R6179:Retreg3 UTSW 11 101103895 start gained probably benign
R6209:Retreg3 UTSW 11 101119700 missense probably benign 0.27
R6869:Retreg3 UTSW 11 101119818 start gained probably benign
R7553:Retreg3 UTSW 11 101106390 missense possibly damaging 0.86
R7615:Retreg3 UTSW 11 101102980 missense probably damaging 1.00
Posted On2015-04-16