Incidental Mutation 'IGL02525:Mon1b'
ID 297046
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: 0.135) question?
Stock # IGL02525
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 25,101,060 (GRCm39) V701I probably benign Het
Adam18 A G 8: 25,131,783 (GRCm39) probably benign Het
Adamts20 G T 15: 94,180,959 (GRCm39) probably null Het
Adgrf5 G T 17: 43,760,854 (GRCm39) V850F probably damaging Het
Agap2 T A 10: 126,919,070 (GRCm39) probably null Het
Ap4b1 G A 3: 103,720,164 (GRCm39) R62K probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Ccdc12 T A 9: 110,540,169 (GRCm39) D120E probably damaging Het
Ccdc22 A G X: 7,461,249 (GRCm39) S529P probably damaging Het
Cilk1 A G 9: 78,067,675 (GRCm39) K390E probably benign Het
Col1a2 A G 6: 4,531,355 (GRCm39) probably benign Het
Ddx59 A T 1: 136,344,743 (GRCm39) Q138L probably benign Het
Dlc1 A T 8: 37,046,800 (GRCm39) F1091L probably damaging Het
Dnah1 C T 14: 31,027,790 (GRCm39) V682M probably benign Het
Dock9 C T 14: 121,877,538 (GRCm39) D404N probably damaging Het
Eif2b4 A G 5: 31,346,962 (GRCm39) V402A probably damaging Het
Erlin1 T C 19: 44,027,634 (GRCm39) H268R probably benign Het
Ermard T C 17: 15,279,601 (GRCm39) probably benign Het
Fam43a A G 16: 30,419,596 (GRCm39) K60R probably benign Het
Frmd4b T A 6: 97,389,494 (GRCm39) D78V probably damaging Het
Gabrq A G X: 71,880,430 (GRCm39) T308A possibly damaging Het
Gipr A G 7: 18,893,690 (GRCm39) C328R possibly damaging Het
Gm17078 T C 14: 51,848,680 (GRCm39) N19S possibly damaging Het
Gm17541 T C 12: 4,739,907 (GRCm39) probably benign Het
Gm21759 T C 5: 8,229,967 (GRCm39) probably benign Het
Gm7964 A G 7: 83,405,250 (GRCm39) noncoding transcript Het
Gspt1 A G 16: 11,048,854 (GRCm39) V318A probably damaging Het
Gtf2ird2 A G 5: 134,245,319 (GRCm39) S526G probably benign Het
Hey2 A G 10: 30,718,643 (GRCm39) M1T probably null Het
Hipk3 T C 2: 104,301,757 (GRCm39) D145G probably damaging Het
Itgae A G 11: 73,021,777 (GRCm39) D886G probably damaging Het
Ktn1 T A 14: 47,962,200 (GRCm39) probably null Het
Med12l A G 3: 58,975,789 (GRCm39) K239R probably benign Het
Milr1 A T 11: 106,656,101 (GRCm39) M124L probably benign Het
Mterf1a G A 5: 3,941,583 (GRCm39) S95F probably benign Het
Myef2 C A 2: 124,955,978 (GRCm39) probably benign Het
Nfrkb T A 9: 31,325,812 (GRCm39) I1085N possibly damaging Het
Or13f5 A T 4: 52,825,616 (GRCm39) Y73F probably damaging Het
Or8d2 T A 9: 38,759,536 (GRCm39) M42K possibly damaging Het
Prodh G A 16: 17,890,332 (GRCm39) Q430* probably null Het
Pstk G T 7: 130,972,922 (GRCm39) R7L probably benign Het
Ptgr1 C A 4: 58,978,067 (GRCm39) E108D probably benign Het
Ptpn9 T A 9: 56,944,009 (GRCm39) Y294* probably null Het
Rnls C T 19: 33,115,614 (GRCm39) V153M possibly damaging Het
Ros1 T C 10: 51,992,138 (GRCm39) T1362A possibly damaging Het
Samt3 G A X: 85,090,527 (GRCm39) A140T possibly damaging Het
Sbpl T A 17: 24,173,837 (GRCm39) M16L unknown Het
Sephs1 G A 2: 4,911,407 (GRCm39) C327Y probably damaging Het
Slc13a1 A T 6: 24,137,135 (GRCm39) I93N probably damaging Het
Slc34a1 T C 13: 55,551,051 (GRCm39) probably benign Het
Slc7a9 T C 7: 35,152,860 (GRCm39) S93P probably damaging Het
Slx4 A G 16: 3,798,461 (GRCm39) S1444P probably damaging Het
Spmap2l T A 5: 77,164,400 (GRCm39) D134E probably benign Het
Stk32b C T 5: 37,688,977 (GRCm39) V116M probably damaging Het
Supt5 A G 7: 28,018,372 (GRCm39) probably benign Het
Syne2 T A 12: 76,147,777 (GRCm39) S6439T probably damaging Het
Taar7d A G 10: 23,903,994 (GRCm39) D292G possibly damaging Het
Tal2 A T 4: 53,785,971 (GRCm39) I51F probably damaging Het
Tk2 A T 8: 104,970,032 (GRCm39) N77K probably benign Het
Tmprss3 T A 17: 31,413,865 (GRCm39) probably benign Het
Tnfrsf10b T C 14: 70,019,825 (GRCm39) M319T probably damaging Het
Trim24 A G 6: 37,922,653 (GRCm39) R417G probably damaging Het
Ttn C A 2: 76,594,658 (GRCm39) G18717* probably null Het
Vmn2r102 A G 17: 19,901,447 (GRCm39) T525A probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnt3 C T 11: 103,703,296 (GRCm39) R260W probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 (GRCm39) T218A probably benign Het
Znfx1 C T 2: 166,879,457 (GRCm39) E776K probably benign Het
Other mutations in Mon1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02487: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
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