Incidental Mutation 'R1667:Mon1b'
ID187294
Institutional Source Beutler Lab
Gene Symbol Mon1b
Ensembl Gene ENSMUSG00000078908
Gene NameMON1 homolog B, secretory traffciking associated
Synonyms
MMRRC Submission 039703-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #R1667 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location113635587-113645179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 113641957 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Glycine at position 497 (C497G)
Ref Sequence ENSEMBL: ENSMUSP00000137605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034219] [ENSMUST00000035777] [ENSMUST00000095173] [ENSMUST00000179926] [ENSMUST00000212269]
Predicted Effect probably benign
Transcript: ENSMUST00000034219
SMART Domains Protein: ENSMUSP00000034219
Gene: ENSMUSG00000033409

DomainStartEndE-ValueType
Pfam:SYCE1 45 135 4.4e-39 PFAM
low complexity region 139 154 N/A INTRINSIC
low complexity region 196 212 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000035777
AA Change: C497G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
AA Change: C497G

DomainStartEndE-ValueType
Pfam:Mon1 105 533 5.5e-172 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095173
SMART Domains Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409

DomainStartEndE-ValueType
Pfam:SYCE1 45 172 8.3e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179926
AA Change: C497G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908
AA Change: C497G

DomainStartEndE-ValueType
Pfam:Mon1 110 532 3.3e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212017
Predicted Effect probably benign
Transcript: ENSMUST00000212269
Meta Mutation Damage Score 0.8657 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (76/77)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,845,648 A26T possibly damaging Het
Adgrg3 T A 8: 95,033,373 Y73* probably null Het
Alk A T 17: 71,911,567 V761E probably damaging Het
Ankrd13a T C 5: 114,786,733 V93A possibly damaging Het
Anks1b T C 10: 90,511,184 probably null Het
Ascl1 T C 10: 87,492,793 N99S probably benign Het
Atm A T 9: 53,500,932 L972Q probably damaging Het
Atp2c1 A T 9: 105,432,797 L566Q probably null Het
Bank1 T A 3: 136,093,296 Y629F probably damaging Het
Bod1l G T 5: 41,816,775 L2399I probably benign Het
Bub1b G A 2: 118,641,189 G1010D probably benign Het
Ces1b G A 8: 93,056,904 H563Y possibly damaging Het
Cfap70 T C 14: 20,404,157 E853G probably benign Het
Cfh T C 1: 140,105,523 E779G probably benign Het
Cox7c A G 13: 86,045,884 S7P probably benign Het
Cyp2c67 A G 19: 39,643,590 probably null Het
Dhx30 G T 9: 110,085,445 L995I possibly damaging Het
Dhx30 G C 9: 110,085,446 N957K possibly damaging Het
Dsc3 T C 18: 19,991,560 T36A possibly damaging Het
Dstyk A G 1: 132,456,919 D717G probably damaging Het
Dusp10 A G 1: 184,036,858 D7G probably damaging Het
E230001N04Rik T G 17: 28,523,961 noncoding transcript Het
Ece2 T C 16: 20,637,838 S330P possibly damaging Het
Fam172a T A 13: 77,759,516 M1K probably null Het
Frmd5 ATAGTGGAATTGTTCAAACTC ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC 2: 121,548,730 probably null Het
Gata3 T C 2: 9,877,549 H14R possibly damaging Het
Ggta1 T A 2: 35,414,283 I75F possibly damaging Het
Hcn1 A T 13: 117,603,073 I124F unknown Het
Herpud1 A C 8: 94,389,366 D53A probably damaging Het
Inhba T A 13: 16,026,624 L257Q possibly damaging Het
Itga10 C T 3: 96,651,738 probably benign Het
Jmy T A 13: 93,498,370 S313C probably damaging Het
Lpo G A 11: 87,807,241 probably benign Het
Lsg1 T C 16: 30,571,352 E315G probably damaging Het
Lsm14a T A 7: 34,365,654 T167S possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 probably null Het
Map3k2 T C 18: 32,203,792 probably benign Het
Mapk12 A T 15: 89,140,141 M81K probably damaging Het
Matn2 T A 15: 34,378,732 C305S probably damaging Het
Mgam T C 6: 40,677,044 Y844H possibly damaging Het
Mgat5b A G 11: 116,947,377 R281G probably benign Het
Mybbp1a A T 11: 72,445,217 H452L probably benign Het
Mybl2 A G 2: 163,075,696 T41A probably damaging Het
Ncoa5 A G 2: 165,001,703 V540A probably damaging Het
Nup93 T A 8: 94,292,687 V47E possibly damaging Het
Olfr1052 A G 2: 86,298,736 M307V probably null Het
Olfr17 A T 7: 107,097,770 M102L probably benign Het
Orc6 T A 8: 85,305,285 C100S possibly damaging Het
Otogl G T 10: 107,813,965 Y1176* probably null Het
Patj A T 4: 98,413,027 D183V probably damaging Het
Pik3r3 A G 4: 116,222,317 T4A probably damaging Het
Pla2g4d G A 2: 120,270,150 probably benign Het
Pla2r1 A G 2: 60,420,257 I1407T probably benign Het
Pramef12 A T 4: 144,393,036 C320* probably null Het
Prex2 A T 1: 11,186,757 H1231L probably benign Het
Prkca A G 11: 107,983,946 V390A probably damaging Het
Psmd13 T A 7: 140,890,609 W255R probably damaging Het
Rec8 T A 14: 55,618,796 N37K probably damaging Het
Rnf207 C T 4: 152,313,215 E361K probably benign Het
Serpina3f T A 12: 104,217,440 L187Q probably damaging Het
Skint11 A T 4: 114,194,781 T109S probably damaging Het
Slc7a8 A G 14: 54,724,849 S443P probably damaging Het
Slc8b1 T A 5: 120,521,082 F197Y probably benign Het
Sox2 T C 3: 34,650,419 Y2H probably damaging Het
Speg T A 1: 75,410,549 probably benign Het
Tlr3 T C 8: 45,400,837 N149D probably benign Het
Trim60 A C 8: 65,001,464 D44E probably benign Het
Ugt1a7c A G 1: 88,095,935 Y272C probably damaging Het
Vmn1r4 T A 6: 56,956,753 Y81N probably damaging Het
Vmn2r73 A T 7: 85,857,681 C808S probably benign Het
Ythdf3 T C 3: 16,204,892 I412T possibly damaging Het
Zfp672 T C 11: 58,316,095 T467A possibly damaging Het
Zfp985 A T 4: 147,583,950 Q425L possibly damaging Het
Other mutations in Mon1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02487:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02525:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02526:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02565:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02577:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02578:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02579:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02580:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02667:Mon1b APN 8 113638823 missense possibly damaging 0.90
IGL02703:Mon1b APN 8 113638823 missense possibly damaging 0.90
PIT4651001:Mon1b UTSW 8 113638622 missense probably benign 0.33
R0326:Mon1b UTSW 8 113637743 missense probably benign 0.24
R0388:Mon1b UTSW 8 113639078 missense probably damaging 0.98
R2426:Mon1b UTSW 8 113639120 missense probably damaging 0.99
R3711:Mon1b UTSW 8 113639147 missense possibly damaging 0.76
R4896:Mon1b UTSW 8 113639227 missense probably damaging 0.97
R4912:Mon1b UTSW 8 113641953 nonsense probably null
R5004:Mon1b UTSW 8 113639227 missense probably damaging 0.97
R5243:Mon1b UTSW 8 113637921 missense possibly damaging 0.86
R5331:Mon1b UTSW 8 113636267 missense probably null 0.25
R6375:Mon1b UTSW 8 113638077 missense probably damaging 0.97
R6461:Mon1b UTSW 8 113638538 missense probably damaging 1.00
R6873:Mon1b UTSW 8 113642065 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACCTAGCTGAAGCTGCTGATCC -3'
(R):5'- TGTTCAGAGTCCTGTGAACAAGCC -3'

Sequencing Primer
(F):5'- TCTGCCCTTGACAGGATGAATAC -3'
(R):5'- CCTGTGAACAAGCCATTGTTG -3'
Posted On2014-05-09