Incidental Mutation 'IGL03405:Retreg3'
ID421581
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 #IGL03405
Quality Score
Status
Chromosome11
Chromosomal Location101096322-101119893 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101100969 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 46 (D46G)
Ref Sequence ENSEMBL: ENSMUSP00000102916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000107295]
Predicted Effect probably damaging
Transcript: ENSMUST00000017946
AA Change: D227G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: D227G

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 damaging
Transcript: ENSMUST00000107295
AA Change: D46G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802
AA Change: D46G

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,016,403 V101A probably benign Het
Btbd3 G A 2: 138,279,761 M121I probably damaging Het
Caprin1 G A 2: 103,779,505 R143C probably damaging Het
Cfap206 A G 4: 34,716,445 I340T possibly damaging Het
Chmp6 A G 11: 119,915,447 Y33C probably damaging Het
Clstn3 T C 6: 124,438,368 D679G possibly damaging Het
Col24a1 G A 3: 145,315,157 A430T possibly damaging Het
Commd6 A T 14: 101,637,072 V28E probably damaging Het
Eno2 T A 6: 124,763,885 Y236F probably benign Het
Erbb4 T C 1: 68,330,238 S415G probably benign Het
Evpl A G 11: 116,227,927 I648T possibly damaging Het
Fat1 T A 8: 45,025,241 D2441E probably damaging Het
Fat4 T C 3: 38,958,450 V2298A probably benign Het
Fbxl8 C A 8: 105,268,120 T88K probably benign Het
Ganc A G 2: 120,433,766 H400R probably damaging Het
Helb G A 10: 120,089,796 T892I probably damaging Het
Jaml A T 9: 45,093,809 K124N possibly damaging Het
Llgl2 G T 11: 115,850,842 E599D probably benign Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nr2e1 G A 10: 42,568,381 A244V probably damaging Het
Obscn T C 11: 59,000,124 K7194R unknown Het
Olfr1031 A G 2: 85,991,886 Q23R possibly damaging Het
Olfr1394 A G 11: 49,160,886 probably null Het
Rasgrf2 A T 13: 91,896,051 I961N probably damaging Het
Rtp2 A C 16: 23,927,576 S122A probably benign Het
Sbf2 T A 7: 110,462,932 D146V probably damaging Het
Slc39a13 A G 2: 91,063,103 V324A probably damaging Het
Sptan1 A G 2: 30,025,581 T2013A probably damaging Het
Tnni3k A G 3: 154,792,767 probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Trpm2 G A 10: 77,966,072 probably benign Het
Ttn A G 2: 76,708,932 L34570P possibly damaging Het
Vmn2r100 T C 17: 19,531,924 V806A probably damaging Het
Wdr70 A G 15: 8,035,871 S237P possibly damaging Het
Wnk1 T C 6: 119,953,895 N896S probably benign Het
Zan T A 5: 137,424,597 D2718V unknown Het
Other mutations in Retreg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Retreg3 APN 11 101100925 nonsense probably null
IGL02547:Retreg3 APN 11 101106378 nonsense probably null
IGL03160:Retreg3 APN 11 101099675 missense probably benign 0.03
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 On2016-08-02