Incidental Mutation 'IGL01085:Retreg3'
ID 52253
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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01085
Quality Score
Status
Chromosome 11
Chromosomal Location 101096322-101119893 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 101100925 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 61 (Q61*)
Ref Sequence ENSEMBL: ENSMUSP00000102916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000107295]
AlphaFold Q9CQV4
Predicted Effect probably null
Transcript: ENSMUST00000017946
AA Change: Q242*
SMART Domains Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: Q242*

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 null
Transcript: ENSMUST00000107295
AA Change: Q61*
SMART Domains Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802
AA Change: Q61*

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,037,342 probably benign Het
Acp7 T C 7: 28,611,053 Y453C probably damaging Het
Bop1 T C 15: 76,453,376 D683G probably damaging Het
Cacna1b G T 2: 24,678,994 R974S probably damaging Het
Cenpt T C 8: 105,846,665 E350G possibly damaging Het
Cep112 G T 11: 108,486,606 R270L probably damaging Het
Crem T C 18: 3,299,236 T26A probably damaging Het
Crot T C 5: 8,973,955 H387R probably damaging Het
Fdxr A T 11: 115,269,576 V351E probably benign Het
Fkbpl T C 17: 34,645,744 L162P probably damaging Het
Fmn2 T A 1: 174,695,654 N1358K probably damaging Het
Gm5155 A T 7: 17,915,691 H729L possibly damaging Het
Hectd4 G T 5: 121,331,701 G2553V probably damaging Het
Ifna16 A T 4: 88,676,732 I42K probably benign Het
Igfals C T 17: 24,881,660 T575I probably benign Het
Il6 G T 5: 30,013,489 V28F probably damaging Het
Irx1 A G 13: 71,959,697 S289P probably benign Het
Ncoa2 T C 1: 13,149,079 T1245A possibly damaging Het
Nr3c2 G T 8: 76,908,354 R28L probably benign Het
Nudt5 G A 2: 5,864,427 V155I probably benign Het
Olfr12 G T 1: 92,620,199 V98F possibly damaging Het
Pcm1 T C 8: 41,309,603 S1395P probably damaging Het
Pkhd1l1 G A 15: 44,562,752 probably null Het
Prodh A T 16: 18,076,344 V339E probably damaging Het
Rbm48 C T 5: 3,584,762 V401M probably benign Het
Rif1 A G 2: 52,085,140 M354V possibly damaging Het
Rrn3 G A 16: 13,809,062 V507M probably damaging Het
Safb2 T A 17: 56,565,242 R197* probably null Het
Slc22a26 A G 19: 7,790,099 V314A probably benign Het
Slfnl1 G T 4: 120,533,356 R68L probably damaging Het
Spata1 G T 3: 146,476,242 Q10K possibly damaging Het
Swi5 T C 2: 32,280,727 M95V possibly damaging Het
Thpo T C 16: 20,728,455 D52G probably damaging Het
Tmem101 A T 11: 102,154,660 L121Q probably damaging Het
Trim40 T C 17: 36,883,241 I187V probably benign Het
Usp33 A G 3: 152,368,569 K351E possibly damaging Het
Uvrag T C 7: 99,118,224 T67A probably damaging Het
Vcan T C 13: 89,679,958 D2163G probably damaging Het
Wnt7a C T 6: 91,408,789 V61I probably benign Het
Zfp804b A G 5: 6,770,931 S675P probably damaging Het
Other mutations in Retreg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02547:Retreg3 APN 11 101106378 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
R8809:Retreg3 UTSW 11 101102026 missense probably damaging 1.00
Posted On 2013-06-21