Incidental Mutation 'R4361:Retreg3'
ID 324926
Institutional Source Beutler Lab
Gene Symbol Retreg3
Ensembl Gene ENSMUSG00000017802
Gene Name reticulophagy regulator family member 3
Synonyms Fam134c, 1300010M03Rik, 4933404C01Rik
MMRRC Submission 041112-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4361 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101096322-101119893 bp(-) (GRCm38)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 101103887 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000107295]
AlphaFold Q9CQV4
Predicted Effect probably null
Transcript: ENSMUST00000017946
SMART Domains Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802

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
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,162,706 (GRCm38) T538A probably damaging Het
1700027J19Rik A G 7: 4,151,780 (GRCm38) V3A possibly damaging Het
4930578I07Rik T C 14: 66,938,401 (GRCm38) noncoding transcript Het
Aadac T A 3: 60,039,761 (GRCm38) S293R probably benign Het
Cc2d1b G A 4: 108,624,750 (GRCm38) probably benign Het
Ccdc157 C T 11: 4,146,550 (GRCm38) A400T probably damaging Het
Cyp11b1 T A 15: 74,839,016 (GRCm38) M232L possibly damaging Het
Dhrs2 G A 14: 55,241,189 (GRCm38) D264N probably damaging Het
Dram2 T C 3: 106,566,215 (GRCm38) probably benign Het
Dtx4 C A 19: 12,485,296 (GRCm38) S373I probably benign Het
Eif4a1 G A 11: 69,667,464 (GRCm38) probably benign Het
Eps15 T C 4: 109,380,031 (GRCm38) probably null Het
Fam122c G A X: 53,293,499 (GRCm38) R94H possibly damaging Het
Fam135b T A 15: 71,490,827 (GRCm38) Q235L probably damaging Het
Fgfr3 T C 5: 33,723,332 (GRCm38) probably benign Het
Gabra4 C T 5: 71,633,545 (GRCm38) probably null Het
Gins1 A G 2: 150,925,901 (GRCm38) Y117C probably damaging Het
Gm12253 T A 11: 58,434,861 (GRCm38) S53T probably benign Het
Gm884 CTTTT CTTTTT 11: 103,617,501 (GRCm38) probably null Het
Gne C A 4: 44,059,947 (GRCm38) A149S possibly damaging Het
Gpc2 A T 5: 138,278,290 (GRCm38) C191* probably null Het
Has2 G T 15: 56,681,948 (GRCm38) A86E probably damaging Het
Ift80 A T 3: 68,963,649 (GRCm38) S205T probably damaging Het
Irx5 G T 8: 92,358,397 (GRCm38) A72S probably damaging Het
Kcnmb4 A T 10: 116,473,505 (GRCm38) V6E probably benign Het
Kcnt1 A T 2: 25,878,032 (GRCm38) Q51L probably benign Het
Klk1b11 A G 7: 43,995,954 (GRCm38) probably null Het
Kmt2d T G 15: 98,863,670 (GRCm38) M600L unknown Het
Lmtk2 T A 5: 144,147,664 (GRCm38) S172R probably damaging Het
Lrrc46 G A 11: 97,034,670 (GRCm38) probably benign Het
Mab21l2 C T 3: 86,547,190 (GRCm38) V168M probably damaging Het
Magea3 C A X: 154,948,853 (GRCm38) C218F probably benign Het
Magea3 A C X: 154,948,854 (GRCm38) C218G possibly damaging Het
Man1a2 T C 3: 100,656,042 (GRCm38) K96E probably benign Het
Mroh2a A T 1: 88,254,965 (GRCm38) N1205I possibly damaging Het
Myf6 GGGGGCAG GG 10: 107,494,432 (GRCm38) probably benign Het
Myom2 G A 8: 15,112,018 (GRCm38) V984I possibly damaging Het
Nav1 G A 1: 135,607,437 (GRCm38) probably benign Het
Nav3 T C 10: 109,852,986 (GRCm38) K477E probably damaging Het
Nup98 T A 7: 102,145,714 (GRCm38) H862L probably damaging Het
Pcnx2 G T 8: 125,768,298 (GRCm38) S1608* probably null Het
Pramef25 A G 4: 143,950,863 (GRCm38) F49L possibly damaging Het
Ren1 A G 1: 133,359,041 (GRCm38) I303V probably benign Het
Rnf6 C A 5: 146,211,279 (GRCm38) V310F probably damaging Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Scrn2 C T 11: 97,032,238 (GRCm38) A169V probably null Het
Slc4a10 T C 2: 62,243,385 (GRCm38) S264P probably benign Het
Tex26 A T 5: 149,460,923 (GRCm38) Q102L probably benign Het
Tex38 A G 4: 115,780,223 (GRCm38) S128P probably benign Het
Trmt1l A G 1: 151,435,875 (GRCm38) probably benign Het
Tyr G T 7: 87,429,076 (GRCm38) H525Q probably benign Het
Veph1 T C 3: 66,159,316 (GRCm38) N417S probably benign Het
Zfp597 A T 16: 3,865,900 (GRCm38) S331T probably damaging Het
Other mutations in Retreg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Retreg3 APN 11 101,100,925 (GRCm38) nonsense probably null
IGL02547:Retreg3 APN 11 101,106,378 (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
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
Predicted Primers PCR Primer
(F):5'- TCAGGTTGTAAGTCACCACTTC -3'
(R):5'- GCAATGTAACATGGGAGCTCC -3'

Sequencing Primer
(F):5'- GTCTCGTCCTATAGAGAAGACACTTG -3'
(R):5'- AACATGGGAGCTCCTTTTTATTGGC -3'
Posted On 2015-07-06