Incidental Mutation 'IGL03160:Retreg3'
ID 411379
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 # IGL03160
Quality Score
Status
Chromosome 11
Chromosomal Location 101096322-101119893 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101099675 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 89 (Q89K)
Ref Sequence ENSEMBL: ENSMUSP00000102916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000019447] [ENSMUST00000107295] [ENSMUST00000142545]
AlphaFold Q9CQV4
Predicted Effect probably benign
Transcript: ENSMUST00000017946
AA Change: Q270K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: Q270K

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: ENSMUST00000019447
SMART Domains Protein: ENSMUSP00000019447
Gene: ENSMUSG00000019303

DomainStartEndE-ValueType
Pfam:TBPIP 11 181 1.9e-69 PFAM
Pfam:Penicillinase_R 14 123 6.1e-8 PFAM
Pfam:Mnd1 16 209 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107295
AA Change: Q89K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802
AA Change: Q89K

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 195 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126386
Predicted Effect probably benign
Transcript: ENSMUST00000142545
SMART Domains Protein: ENSMUSP00000117100
Gene: ENSMUSG00000019303

DomainStartEndE-ValueType
Pfam:TBPIP 11 83 6.2e-33 PFAM
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T C 13: 111,255,928 S266P probably benign Het
Agrn A T 4: 156,170,363 F1525Y probably damaging Het
Akap13 T C 7: 75,730,417 V2165A probably damaging Het
Cd109 G T 9: 78,661,056 probably null Het
Cdhr4 A C 9: 107,995,869 T339P probably benign Het
Chek1 T C 9: 36,722,645 H128R probably damaging Het
Clcn7 T A 17: 25,146,453 probably benign Het
Dnah9 A G 11: 66,108,054 F1056S probably damaging Het
Eml3 A T 19: 8,934,955 Q372L probably benign Het
Fam161b T C 12: 84,353,825 T458A probably benign Het
Fbxo3 T A 2: 104,030,347 C36* probably null Het
Gm28042 T A 2: 120,035,828 I369N possibly damaging Het
Gpc1 A G 1: 92,857,857 Y423C probably damaging Het
Heatr5a A G 12: 51,884,496 probably benign Het
Hectd4 A T 5: 121,259,879 Y290F probably benign Het
Ifi207 T C 1: 173,735,104 probably benign Het
Kndc1 A T 7: 139,920,689 K657* probably null Het
Lama5 T C 2: 180,180,335 T2927A probably damaging Het
Lepr A T 4: 101,764,906 N345I probably damaging Het
Mtbp T C 15: 55,620,617 probably benign Het
Muc1 G A 3: 89,233,024 V608I possibly damaging Het
Olfr679 A G 7: 105,086,313 N199S probably damaging Het
P2ry13 A G 3: 59,210,075 L94P probably damaging Het
Rhoq A C 17: 86,996,921 Y160S probably damaging Het
Samd9l A T 6: 3,374,894 V789D probably damaging Het
Slc35f5 T C 1: 125,574,735 S275P probably damaging Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Snapc1 T A 12: 73,970,204 H205Q probably damaging Het
Stard3 G T 11: 98,378,911 R352L probably damaging Het
Stat5a A G 11: 100,861,845 I85V possibly damaging Het
Tenm3 A T 8: 48,646,418 D117E probably benign Het
Tg T A 15: 66,839,303 C971* probably null Het
Tnrc6c T A 11: 117,749,825 probably benign Het
Tra2a C T 6: 49,263,864 V4I possibly damaging Het
Trim54 C T 5: 31,132,080 T145I probably damaging Het
Vmn2r75 T C 7: 86,148,436 D723G probably damaging Het
Wisp3 T C 10: 39,153,237 T232A probably damaging Het
Wnk1 T C 6: 119,926,633 T2042A probably damaging Het
Zfp87 T C 13: 67,521,273 E18G probably damaging Het
Other mutations in Retreg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Retreg3 APN 11 101100925 nonsense probably null
IGL02547:Retreg3 APN 11 101106378 nonsense probably null
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 2016-08-02