Incidental Mutation 'IGL02703:Mon1b'
ID304200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mon1b
Ensembl Gene ENSMUSG00000078908
Gene NameMON1 homolog B, secretory traffciking associated
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02703
Quality Score
Status
Chromosome8
Chromosomal Location113635587-113645179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 113638823 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 261 (R261L)
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 possibly damaging
Transcript: ENSMUST00000035777
AA Change: R261L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
AA Change: R261L

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 possibly damaging
Transcript: ENSMUST00000179926
AA Change: R261L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908
AA Change: R261L

DomainStartEndE-ValueType
Pfam:Mon1 110 532 3.3e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212017
Predicted Effect probably benign
Transcript: ENSMUST00000212269
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,064,241 Q60L probably damaging Het
AI593442 A C 9: 52,678,118 L53R probably damaging Het
Bmp2 T G 2: 133,561,404 S292A probably benign Het
Cd37 T C 7: 45,235,525 D186G probably benign Het
Cenpf T C 1: 189,659,758 I626V probably benign Het
Faim T A 9: 98,992,201 S49T probably benign Het
Glrb T G 3: 80,850,993 E371A probably benign Het
Kcne2 T C 16: 92,296,950 S122P possibly damaging Het
Olfr1047 T A 2: 86,228,979 probably benign Het
Olfr1420 A G 19: 11,896,242 T74A possibly damaging Het
Olfr453 T G 6: 42,744,076 I13S possibly damaging Het
Pex1 C A 5: 3,615,120 H573Q probably benign Het
Plxna1 A G 6: 89,356,943 S235P probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc41a2 T C 10: 83,254,847 K491R probably damaging Het
Sugct T G 13: 17,452,540 T243P possibly damaging Het
Tnfaip3 G T 10: 19,007,032 D212E probably damaging Het
Trim68 A G 7: 102,684,079 V132A probably 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
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
R1667:Mon1b UTSW 8 113641957 missense probably damaging 0.99
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
R8250:Mon1b UTSW 8 113639719 missense probably damaging 0.98
R8765:Mon1b UTSW 8 113636249 missense possibly damaging 0.72
Z1176:Mon1b UTSW 8 113637809 missense probably benign 0.00
Posted On2015-04-16