Incidental Mutation 'R1906:Tom1'
ID 214383
Institutional Source Beutler Lab
Gene Symbol Tom1
Ensembl Gene ENSMUSG00000042870
Gene Name target of myb1 trafficking protein
Synonyms
MMRRC Submission 039925-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R1906 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 75760333-75796749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75778218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 100 (V100A)
Ref Sequence ENSEMBL: ENSMUSP00000077891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078847] [ENSMUST00000165630] [ENSMUST00000211869] [ENSMUST00000212299] [ENSMUST00000212388] [ENSMUST00000212564] [ENSMUST00000212651]
AlphaFold O88746
Predicted Effect probably damaging
Transcript: ENSMUST00000078847
AA Change: V100A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870
AA Change: V100A

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: V100A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870
AA Change: V100A

DomainStartEndE-ValueType
VHS 13 148 4.03e-68 SMART
Pfam:GAT 212 312 5.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211938
Predicted Effect probably benign
Transcript: ENSMUST00000212299
Predicted Effect probably benign
Transcript: ENSMUST00000212388
Predicted Effect probably benign
Transcript: ENSMUST00000212564
Predicted Effect probably benign
Transcript: ENSMUST00000212651
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.5%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,072,984 (GRCm39) T923I probably benign Het
Abhd13 T A 8: 10,038,170 (GRCm39) C256S probably benign Het
Adamts5 C T 16: 85,665,573 (GRCm39) W576* probably null Het
Adnp A T 2: 168,024,287 (GRCm39) S1003T probably benign Het
AI987944 C T 7: 41,024,550 (GRCm39) R146Q probably benign Het
Apol6 G T 15: 76,935,060 (GRCm39) V110F probably damaging Het
Arhgap27 A G 11: 103,223,751 (GRCm39) F651L probably damaging Het
Atm T C 9: 53,417,868 (GRCm39) D813G probably damaging Het
Casd1 T A 6: 4,641,979 (GRCm39) I752N probably damaging Het
Cdr2 A G 7: 120,581,224 (GRCm39) Y18H probably damaging Het
Cntn4 T C 6: 106,330,607 (GRCm39) F75S probably benign Het
Col20a1 G A 2: 180,640,490 (GRCm39) R549H probably benign Het
Col28a1 A T 6: 7,999,644 (GRCm39) N1024K probably benign Het
Dnah10 T A 5: 124,878,048 (GRCm39) V2654D probably damaging Het
Dnph1 A T 17: 46,807,787 (GRCm39) I18F probably damaging Het
Dsn1 G A 2: 156,838,163 (GRCm39) R334W probably damaging Het
Egf T A 3: 129,518,873 (GRCm39) K325N probably benign Het
Eps15 T G 4: 109,181,398 (GRCm39) S311A possibly damaging Het
Fmo3 G T 1: 162,794,475 (GRCm39) D198E probably damaging Het
Folh1 C G 7: 86,391,374 (GRCm39) probably null Het
Foxn1 A G 11: 78,262,636 (GRCm39) probably null Het
Gm10604 T G 4: 11,979,989 (GRCm39) D105A unknown Het
Gpx8 A G 13: 113,182,110 (GRCm39) C108R probably damaging Het
Herc2 A T 7: 55,764,612 (GRCm39) I1013L probably benign Het
Hyal4 T G 6: 24,756,110 (GRCm39) N109K probably damaging Het
Il22ra1 T G 4: 135,478,544 (GRCm39) C538W probably damaging Het
Ints13 A T 6: 146,453,868 (GRCm39) probably null Het
Krt75 T A 15: 101,481,801 (GRCm39) T156S possibly damaging Het
Lama2 A C 10: 26,932,523 (GRCm39) probably null Het
Lifr G T 15: 7,217,612 (GRCm39) V847L probably damaging Het
Lmf1 T A 17: 25,831,309 (GRCm39) I185N probably damaging Het
Mast1 G A 8: 85,642,895 (GRCm39) R967C probably damaging Het
Ms4a15 T C 19: 10,960,644 (GRCm39) I94V probably benign Het
Mycbpap A T 11: 94,396,447 (GRCm39) M131K probably benign Het
Ncor1 A T 11: 62,240,211 (GRCm39) M920K possibly damaging Het
Neb A G 2: 52,198,538 (GRCm39) Y437H probably damaging Het
Npy5r A T 8: 67,134,125 (GRCm39) W223R probably damaging Het
Or10ak11 G A 4: 118,687,467 (GRCm39) H56Y probably damaging Het
Or10x4 C A 1: 174,218,730 (GRCm39) L32M probably damaging Het
Or4c114 A G 2: 88,905,414 (GRCm39) V7A possibly damaging Het
Or6c6c T G 10: 129,541,365 (GRCm39) V206G probably benign Het
Polg T C 7: 79,110,070 (GRCm39) K353E probably damaging Het
Proz C G 8: 13,123,686 (GRCm39) probably null Het
Pus7 T C 5: 23,983,209 (GRCm39) D86G probably damaging Het
Rhpn1 T C 15: 75,583,673 (GRCm39) V386A probably benign Het
Rigi T C 4: 40,206,054 (GRCm39) K846R probably benign Het
Sptbn4 A G 7: 27,090,856 (GRCm39) probably null Het
Srp68 A T 11: 116,141,587 (GRCm39) I424N probably damaging Het
Stard9 A G 2: 120,526,908 (GRCm39) E1055G probably benign Het
Taf4b A G 18: 14,955,159 (GRCm39) I571V probably benign Het
Tas2r107 T C 6: 131,636,951 (GRCm39) M33V probably benign Het
Thap12 T C 7: 98,365,947 (GRCm39) L705P probably damaging Het
Tox3 A G 8: 90,975,057 (GRCm39) probably benign Het
Vmn2r82 A G 10: 79,232,344 (GRCm39) N781S probably damaging Het
Vwa5b1 A T 4: 138,327,547 (GRCm39) V343E possibly damaging Het
Zbbx A G 3: 74,979,047 (GRCm39) Y467H probably damaging Het
Zbtb46 G A 2: 181,065,632 (GRCm39) R173W probably damaging Het
Zfp112 A G 7: 23,821,720 (GRCm39) D20G probably benign Het
Zfp777 A C 6: 48,018,995 (GRCm39) M313R probably damaging 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
IGL02825:Tom1 APN 8 75,783,883 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAAGGGAGTCTTGTCTGTCC -3'
(R):5'- GATAAGTCCTGCTGCACACG -3'

Sequencing Primer
(F):5'- TCATGTCCCAGTCCCCTAGGAG -3'
(R):5'- TCCTGCTGCACACGTAAGC -3'
Posted On 2014-07-14