Incidental Mutation 'IGL02703:Mon1b'
ID 304200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mon1b
Ensembl Gene ENSMUSG00000078908
Gene Name MON1 homolog B, secretory traffciking associated
Synonyms 5033413H12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL02703
Quality Score
Status
Chromosome 8
Chromosomal Location 114362219-114371811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114365455 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BMQ8
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: 37,118,390 (GRCm39) Q60L probably damaging Het
AI593442 A C 9: 52,589,418 (GRCm39) L53R probably damaging Het
Bmp2 T G 2: 133,403,324 (GRCm39) S292A probably benign Het
Cd37 T C 7: 44,884,949 (GRCm39) D186G probably benign Het
Cenpf T C 1: 189,391,955 (GRCm39) I626V probably benign Het
Faim T A 9: 98,874,254 (GRCm39) S49T probably benign Het
Glrb T G 3: 80,758,300 (GRCm39) E371A probably benign Het
Kcne2 T C 16: 92,093,838 (GRCm39) S122P possibly damaging Het
Or10v1 A G 19: 11,873,606 (GRCm39) T74A possibly damaging Het
Or2f1 T G 6: 42,721,010 (GRCm39) I13S possibly damaging Het
Or8k3 T A 2: 86,059,323 (GRCm39) probably benign Het
Pex1 C A 5: 3,665,120 (GRCm39) H573Q probably benign Het
Plxna1 A G 6: 89,333,925 (GRCm39) S235P probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Slc41a2 T C 10: 83,090,711 (GRCm39) K491R probably damaging Het
Sugct T G 13: 17,627,125 (GRCm39) T243P possibly damaging Het
Tnfaip3 G T 10: 18,882,780 (GRCm39) D212E probably damaging Het
Trim68 A G 7: 102,333,286 (GRCm39) V132A probably damaging Het
Other mutations in Mon1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02487:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
IGL02525:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
IGL02526:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
IGL02565:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
IGL02577:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
IGL02578:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
IGL02579:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
IGL02580:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
IGL02667:Mon1b APN 8 114,365,455 (GRCm39) missense possibly damaging 0.90
PIT4651001:Mon1b UTSW 8 114,365,254 (GRCm39) missense probably benign 0.33
R0326:Mon1b UTSW 8 114,364,375 (GRCm39) missense probably benign 0.24
R0388:Mon1b UTSW 8 114,365,710 (GRCm39) missense probably damaging 0.98
R1667:Mon1b UTSW 8 114,368,589 (GRCm39) missense probably damaging 0.99
R2426:Mon1b UTSW 8 114,365,752 (GRCm39) missense probably damaging 0.99
R3711:Mon1b UTSW 8 114,365,779 (GRCm39) missense possibly damaging 0.76
R4896:Mon1b UTSW 8 114,365,859 (GRCm39) missense probably damaging 0.97
R4912:Mon1b UTSW 8 114,368,585 (GRCm39) nonsense probably null
R5004:Mon1b UTSW 8 114,365,859 (GRCm39) missense probably damaging 0.97
R5243:Mon1b UTSW 8 114,364,553 (GRCm39) missense possibly damaging 0.86
R5331:Mon1b UTSW 8 114,362,899 (GRCm39) missense probably null 0.25
R6375:Mon1b UTSW 8 114,364,709 (GRCm39) missense probably damaging 0.97
R6461:Mon1b UTSW 8 114,365,170 (GRCm39) missense probably damaging 1.00
R6873:Mon1b UTSW 8 114,368,697 (GRCm39) missense probably damaging 1.00
R8250:Mon1b UTSW 8 114,366,351 (GRCm39) missense probably damaging 0.98
R8765:Mon1b UTSW 8 114,362,881 (GRCm39) missense possibly damaging 0.72
R9174:Mon1b UTSW 8 114,365,689 (GRCm39) missense probably damaging 0.97
Z1176:Mon1b UTSW 8 114,364,441 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16