Incidental Mutation 'IGL02825:Tom1'
ID 361159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tom1
Ensembl Gene ENSMUSG00000042870
Gene Name target of myb1 trafficking protein
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02825
Quality Score
Status
Chromosome 8
Chromosomal Location 75760333-75796749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75783883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 64 (D64G)
Ref Sequence ENSEMBL: ENSMUSP00000148271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078847] [ENSMUST00000165630] [ENSMUST00000212388] [ENSMUST00000212651]
AlphaFold O88746
Predicted Effect probably damaging
Transcript: ENSMUST00000078847
AA Change: D289G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870
AA Change: D289G

DomainStartEndE-ValueType
VHS 13 148 4.03e-68 SMART
Pfam:GAT 228 303 1.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165630
AA Change: D289G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870
AA Change: D289G

DomainStartEndE-ValueType
VHS 13 148 4.03e-68 SMART
Pfam:GAT 212 312 5.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212278
Predicted Effect probably damaging
Transcript: ENSMUST00000212388
AA Change: D64G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212651
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,733,710 (GRCm39) V163A possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
B3gnt4 T C 5: 123,649,114 (GRCm39) F160L possibly damaging Het
Brd3 T C 2: 27,339,275 (GRCm39) E685G probably damaging Het
Cacna2d2 C T 9: 107,401,659 (GRCm39) R746C probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chl1 T A 6: 103,645,764 (GRCm39) V268E possibly damaging Het
Cpb1 T A 3: 20,303,889 (GRCm39) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm39) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm39) probably benign Het
Edc4 T C 8: 106,617,243 (GRCm39) S1021P probably damaging Het
Exoc7 A C 11: 116,188,411 (GRCm39) L296R probably damaging Het
Fgd5 A G 6: 92,015,068 (GRCm39) probably null Het
Gm28042 T A 2: 119,862,125 (GRCm39) M232K probably damaging Het
Ints1 A T 5: 139,750,494 (GRCm39) S888T probably benign Het
Kirrel1 A T 3: 86,996,595 (GRCm39) probably benign Het
Lrp1 C T 10: 127,378,474 (GRCm39) R4037Q probably damaging Het
Lrrc37 G A 11: 103,507,894 (GRCm39) probably benign Het
Lrrn3 A T 12: 41,502,592 (GRCm39) V575D probably damaging Het
Mapk11 A G 15: 89,030,585 (GRCm39) Y103H probably damaging Het
Mrpl19 G T 6: 81,942,796 (GRCm39) T38K probably benign Het
Nefl A T 14: 68,321,795 (GRCm39) K128N possibly damaging Het
Olfm1 A G 2: 28,119,090 (GRCm39) N242D probably damaging Het
Oprd1 T A 4: 131,844,670 (GRCm39) T113S probably damaging Het
Or10d1 A T 9: 39,483,877 (GRCm39) I226N probably damaging Het
Or52s19 T C 7: 103,007,568 (GRCm39) I278V probably benign Het
Pds5b C T 5: 150,652,435 (GRCm39) T234I possibly damaging Het
Prpf3 A T 3: 95,760,792 (GRCm39) C37S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Rph3a T C 5: 121,083,509 (GRCm39) K587R possibly damaging Het
Scn3b T C 9: 40,188,441 (GRCm39) C5R probably damaging Het
Sirpa C T 2: 129,457,372 (GRCm39) P149S probably damaging Het
Slco1a1 A T 6: 141,864,343 (GRCm39) C486S probably damaging Het
Spin1 C A 13: 51,277,332 (GRCm39) probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Trbv4 T A 6: 41,036,613 (GRCm39) L46Q probably damaging Het
Trhr A T 15: 44,092,921 (GRCm39) D386V possibly damaging Het
Vmn2r101 T A 17: 19,810,132 (GRCm39) I306N probably benign Het
Vmn2r51 C T 7: 9,832,046 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,576,274 (GRCm39) probably null Het
Zfp277 T C 12: 40,367,175 (GRCm39) K494E probably benign Het
Zranb3 A T 1: 127,887,489 (GRCm39) S979R probably benign Het
Other mutations in Tom1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Tom1 APN 8 75,778,802 (GRCm39) missense probably benign 0.27
IGL00979:Tom1 APN 8 75,781,331 (GRCm39) unclassified probably benign
IGL01143:Tom1 APN 8 75,785,085 (GRCm39) missense probably benign 0.00
R0335:Tom1 UTSW 8 75,791,020 (GRCm39) critical splice acceptor site probably null
R0762:Tom1 UTSW 8 75,778,934 (GRCm39) splice site probably benign
R1317:Tom1 UTSW 8 75,778,179 (GRCm39) missense probably benign 0.03
R1509:Tom1 UTSW 8 75,781,259 (GRCm39) missense probably damaging 1.00
R1691:Tom1 UTSW 8 75,778,227 (GRCm39) missense probably damaging 1.00
R1761:Tom1 UTSW 8 75,778,179 (GRCm39) missense probably benign 0.03
R1906:Tom1 UTSW 8 75,778,218 (GRCm39) missense probably damaging 1.00
R3966:Tom1 UTSW 8 75,785,867 (GRCm39) missense probably benign 0.05
R5004:Tom1 UTSW 8 75,778,630 (GRCm39) missense probably damaging 1.00
R5513:Tom1 UTSW 8 75,783,848 (GRCm39) missense probably damaging 0.99
R5906:Tom1 UTSW 8 75,776,886 (GRCm39) missense probably damaging 1.00
R6147:Tom1 UTSW 8 75,781,320 (GRCm39) missense possibly damaging 0.90
R6964:Tom1 UTSW 8 75,778,593 (GRCm39) missense probably null 1.00
R7010:Tom1 UTSW 8 75,778,603 (GRCm39) missense probably damaging 0.98
R7131:Tom1 UTSW 8 75,783,877 (GRCm39) missense possibly damaging 0.88
R7147:Tom1 UTSW 8 75,783,895 (GRCm39) missense probably damaging 1.00
R8701:Tom1 UTSW 8 75,778,796 (GRCm39) missense probably benign 0.00
R9081:Tom1 UTSW 8 75,778,151 (GRCm39) missense probably damaging 1.00
R9278:Tom1 UTSW 8 75,783,883 (GRCm39) missense probably damaging 1.00
R9344:Tom1 UTSW 8 75,785,076 (GRCm39) missense probably damaging 1.00
R9563:Tom1 UTSW 8 75,787,177 (GRCm39) missense probably benign 0.11
R9647:Tom1 UTSW 8 75,785,495 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18