Incidental Mutation 'R0388:Mon1b'
ID 31416
Institutional Source Beutler Lab
Gene Symbol Mon1b
Ensembl Gene ENSMUSG00000078908
Gene Name MON1 homolog B, secretory traffciking associated
Synonyms 5033413H12Rik
MMRRC Submission 038594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0388 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 114362219-114371811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114365710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 346 (V346E)
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 probably damaging
Transcript: ENSMUST00000035777
AA Change: V346E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
AA Change: V346E

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: V346E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908
AA Change: V346E

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 0.7643 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,516,347 (GRCm39) K678R probably damaging Het
Adgrg6 A G 10: 14,326,402 (GRCm39) I410T probably benign Het
Afap1l2 A C 19: 56,905,674 (GRCm39) probably benign Het
Aox1 T C 1: 58,393,565 (GRCm39) Y1242H probably damaging Het
Apoo-ps T C 13: 107,551,173 (GRCm39) noncoding transcript Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdh3 C A 8: 107,265,761 (GRCm39) T268K probably damaging Het
Chd5 T A 4: 152,456,101 (GRCm39) H923Q probably damaging Het
Chd7 T C 4: 8,854,560 (GRCm39) V1967A probably benign Het
Cntn3 T C 6: 102,254,277 (GRCm39) M222V probably damaging Het
Dcaf17 A G 2: 70,908,915 (GRCm39) K277R probably benign Het
Dmbt1 T C 7: 130,697,779 (GRCm39) probably benign Het
Dmpk T A 7: 18,818,002 (GRCm39) probably benign Het
Dzank1 A T 2: 144,318,026 (GRCm39) L714Q possibly damaging Het
Efcab3 A G 11: 105,000,227 (GRCm39) D272G possibly damaging Het
Erbb2 G C 11: 98,318,177 (GRCm39) R471P possibly damaging Het
Esf1 T A 2: 139,962,791 (GRCm39) Y760F possibly damaging Het
Fanci C A 7: 79,089,378 (GRCm39) T938K probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Hspg2 T A 4: 137,238,469 (GRCm39) C319S probably damaging Het
Il12a T A 3: 68,602,520 (GRCm39) probably null Het
Inpp4a A G 1: 37,435,241 (GRCm39) D837G probably damaging Het
Kcnj5 T A 9: 32,229,159 (GRCm39) E13V probably damaging Het
Kcnq3 T A 15: 65,871,887 (GRCm39) Y594F probably benign Het
Kif16b T C 2: 142,582,857 (GRCm39) E556G probably damaging Het
Kif28 T C 1: 179,567,654 (GRCm39) I39V possibly damaging Het
Lgi2 T C 5: 52,711,891 (GRCm39) E143G probably damaging Het
Mast1 T G 8: 85,642,166 (GRCm39) I1063L probably benign Het
Med12l T C 3: 59,000,925 (GRCm39) probably benign Het
Mmp19 G T 10: 128,634,752 (GRCm39) R456L probably benign Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mrgpra9 A T 7: 46,902,542 (GRCm39) M1K probably null Het
Mycbp2 A T 14: 103,394,103 (GRCm39) H2819Q probably benign Het
Nav1 A C 1: 135,376,655 (GRCm39) probably benign Het
Neurl4 T C 11: 69,802,559 (GRCm39) probably benign Het
Ntng2 G C 2: 29,097,438 (GRCm39) P341R probably damaging Het
Oas1d A T 5: 121,055,091 (GRCm39) Y221F probably damaging Het
Or1j19 C A 2: 36,676,874 (GRCm39) D112E probably benign Het
Or1l4 A C 2: 37,092,196 (GRCm39) probably null Het
Or5al6 A G 2: 85,976,974 (GRCm39) Y35H probably damaging Het
Osbpl8 A G 10: 111,108,143 (GRCm39) M380V probably benign Het
Pank1 T C 19: 34,799,106 (GRCm39) probably benign Het
Parn T C 16: 13,472,340 (GRCm39) D169G possibly damaging Het
Pknox1 T A 17: 31,822,166 (GRCm39) I311N probably damaging Het
Pprc1 T C 19: 46,051,214 (GRCm39) V248A possibly damaging Het
Prkcq T C 2: 11,259,045 (GRCm39) C322R probably benign Het
Ptpn13 T A 5: 103,702,928 (GRCm39) I1298N probably benign Het
Rab11fip3 A G 17: 26,288,046 (GRCm39) S36P probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sass6 C A 3: 116,400,957 (GRCm39) probably benign Het
Shroom3 G A 5: 93,099,152 (GRCm39) G1463D probably benign Het
Slc35d1 A T 4: 103,042,084 (GRCm39) Y249* probably null Het
Slc9a3 C T 13: 74,269,655 (GRCm39) P8S unknown Het
Slc9a9 T A 9: 94,821,616 (GRCm39) probably null Het
Sting1 A G 18: 35,868,164 (GRCm39) probably null Het
Syne2 T A 12: 76,033,749 (GRCm39) M3666K probably benign Het
Synpo2 A G 3: 122,873,546 (GRCm39) V1140A probably benign Het
Thada A G 17: 84,538,524 (GRCm39) F1495L probably benign Het
Timeless A G 10: 128,077,294 (GRCm39) probably null Het
Tlr6 G T 5: 65,112,548 (GRCm39) H120N possibly damaging Het
Tns3 T C 11: 8,395,703 (GRCm39) I1234V probably benign Het
Ttll9 A G 2: 152,842,099 (GRCm39) S318G probably benign Het
Vps13c T C 9: 67,830,197 (GRCm39) probably benign Het
Zfp933 T C 4: 147,910,899 (GRCm39) I232M probably benign Het
Zfyve27 T C 19: 42,178,024 (GRCm39) S382P 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
IGL02703: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
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
Predicted Primers PCR Primer
(F):5'- CTCTTGGACAGTGTGGAGCAAGAC -3'
(R):5'- CATTAGAGAAGTTGGCAGCCTCCC -3'

Sequencing Primer
(F):5'- ATGCCCTGGGCACACTAC -3'
(R):5'- TCCCCAAGAGTACGCAGG -3'
Posted On 2013-04-24