Incidental Mutation 'R5906:Tom1'
ID 460639
Institutional Source Beutler Lab
Gene Symbol Tom1
Ensembl Gene ENSMUSG00000042870
Gene Name target of myb1 trafficking protein
Synonyms
MMRRC Submission 044103-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5906 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 75760333-75796749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75776886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 69 (L69P)
Ref Sequence ENSEMBL: ENSMUSP00000148670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078847] [ENSMUST00000165630] [ENSMUST00000211869] [ENSMUST00000212299] [ENSMUST00000212388] [ENSMUST00000212651] [ENSMUST00000212564]
AlphaFold O88746
Predicted Effect probably damaging
Transcript: ENSMUST00000078847
AA Change: L69P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870
AA Change: L69P

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: L69P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870
AA Change: L69P

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 damaging
Transcript: ENSMUST00000212299
AA Change: L69P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212388
Predicted Effect probably benign
Transcript: ENSMUST00000212651
Predicted Effect probably benign
Transcript: ENSMUST00000212564
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.4%
Validation Efficiency 95% (81/85)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik C A 11: 58,182,260 (GRCm39) probably null Het
9130023H24Rik G A 7: 127,835,664 (GRCm39) P310S probably benign Het
Abcc10 G T 17: 46,627,485 (GRCm39) H652Q probably benign Het
Actl6b A G 5: 137,565,591 (GRCm39) I396V possibly damaging Het
Acvr1b T C 15: 101,091,772 (GRCm39) probably benign Het
Adamts18 A T 8: 114,436,251 (GRCm39) H989Q probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Angptl3 A G 4: 98,925,804 (GRCm39) T377A probably benign Het
Ankmy2 G A 12: 36,226,632 (GRCm39) V109M probably damaging Het
Anpep G A 7: 79,483,423 (GRCm39) A689V probably benign Het
Brwd1 A T 16: 95,859,938 (GRCm39) M350K probably damaging Het
Cacna1d C T 14: 29,818,917 (GRCm39) V1213I probably damaging Het
Capn1 A G 19: 6,061,451 (GRCm39) F156L possibly damaging Het
Catsperb C A 12: 101,476,721 (GRCm39) F408L probably damaging Het
Ccdc146 A T 5: 21,506,350 (GRCm39) L697Q possibly damaging Het
Cdc37l1 T A 19: 28,989,386 (GRCm39) V281E probably benign Het
Chia1 A T 3: 106,039,304 (GRCm39) T465S probably benign Het
Cidec A T 6: 113,405,282 (GRCm39) probably null Het
Clcnkb T C 4: 141,139,610 (GRCm39) T131A probably benign Het
Clec5a T A 6: 40,558,793 (GRCm39) M98L probably benign Het
Cnga1 A T 5: 72,768,201 (GRCm39) F162I probably benign Het
Cyp27b1 A T 10: 126,884,267 (GRCm39) I40F probably damaging Het
Edrf1 A G 7: 133,265,144 (GRCm39) S1027G probably benign Het
Entpd1 C A 19: 40,727,283 (GRCm39) A448E probably damaging Het
Espl1 T C 15: 102,205,286 (GRCm39) probably null Het
Etfdh T C 3: 79,511,422 (GRCm39) I520V probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gabra4 G A 5: 71,781,253 (GRCm39) P386L probably benign Het
Gckr G T 5: 31,463,922 (GRCm39) V281L probably damaging Het
Gfy T C 7: 44,827,167 (GRCm39) T310A probably benign Het
Gjc2 C A 11: 59,067,667 (GRCm39) V272L probably benign Het
Gm13441 G C 2: 31,777,511 (GRCm39) silent Het
H2-DMb2 T A 17: 34,367,582 (GRCm39) M1K probably null Het
Hipk3 T C 2: 104,302,153 (GRCm39) Y13C probably damaging Het
Kcnt1 A T 2: 25,784,536 (GRCm39) probably benign Het
Kcnt1 T C 2: 25,788,413 (GRCm39) F336S probably damaging Het
Klhdc7b A G 15: 89,271,359 (GRCm39) D747G probably benign Het
Krt78 T A 15: 101,857,030 (GRCm39) E359V probably damaging Het
Mast4 T C 13: 102,872,252 (GRCm39) D2195G probably benign Het
Matk C T 10: 81,096,753 (GRCm39) L188F probably damaging Het
Mcoln2 T C 3: 145,889,496 (GRCm39) I399T probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nap1l1 A T 10: 111,326,891 (GRCm39) K151* probably null Het
Ncbp3 T A 11: 72,964,327 (GRCm39) S426T probably benign Het
Nisch T A 14: 30,893,985 (GRCm39) probably null Het
Or4k15b T C 14: 50,272,306 (GRCm39) T185A probably benign Het
Or5b113 T C 19: 13,342,369 (GRCm39) C126R probably damaging Het
Or8a1b A G 9: 37,623,101 (GRCm39) I158T probably benign Het
Or8b8 A G 9: 37,809,174 (GRCm39) H158R probably damaging Het
Peg3 T C 7: 6,720,854 (GRCm39) D17G probably damaging Het
Pkd1 G A 17: 24,791,894 (GRCm39) V1194M probably benign Het
Pkd1l2 A T 8: 117,756,387 (GRCm39) I1615N probably damaging Het
Pkd2 A T 5: 104,625,045 (GRCm39) probably null Het
Pkp4 T A 2: 59,135,420 (GRCm39) N97K possibly damaging Het
Prrx2 C T 2: 30,769,522 (GRCm39) R78C probably damaging Het
Pycr1 T A 11: 120,532,988 (GRCm39) I91F probably damaging Het
Rap1a T C 3: 105,645,081 (GRCm39) N87S possibly damaging Het
Sbk2 T G 7: 4,960,627 (GRCm39) Y181S probably damaging Het
Scart1 T A 7: 139,808,712 (GRCm39) D874E probably damaging Het
Sec16a A T 2: 26,328,843 (GRCm39) H1057Q possibly damaging Het
Sfswap G A 5: 129,619,107 (GRCm39) E486K probably benign Het
Shank3 T C 15: 89,433,119 (GRCm39) V1213A probably damaging Het
Slfn5 T A 11: 82,848,102 (GRCm39) I329K probably benign Het
Slit1 T A 19: 41,594,813 (GRCm39) N1186Y probably damaging Het
Ssbp3 A G 4: 106,867,018 (GRCm39) probably benign Het
Steap3 T A 1: 120,171,731 (GRCm39) I125F probably damaging Het
Synpr C A 14: 13,608,788 (GRCm38) probably benign Het
Traf3ip3 T A 1: 192,880,314 (GRCm39) D5V possibly damaging Het
Vmn1r29 G A 6: 58,284,736 (GRCm39) S152N probably benign Het
Vmn1r68 T C 7: 10,261,550 (GRCm39) I183V probably benign Het
Wdr17 C G 8: 55,092,503 (GRCm39) V1094L probably benign Het
Wdr95 A G 5: 149,487,692 (GRCm39) I109V possibly damaging Het
Zfp39 T C 11: 58,793,717 (GRCm39) D7G probably benign Het
Zfp512 A T 5: 31,637,408 (GRCm39) Q443L probably damaging Het
Zfp974 T A 7: 27,610,230 (GRCm39) K498N possibly 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
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
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'- CCAAGAACTGAAGCCAGCTG -3'
(R):5'- AACAATTTGCCCATGGTCAC -3'

Sequencing Primer
(F):5'- AGGTGCTCTGAGTACAGGC -3'
(R):5'- GCCCATGGTCACTTTCTTCTGAG -3'
Posted On 2017-02-28