Incidental Mutation 'R0280:Tomm40'
ID 37450
Institutional Source Beutler Lab
Gene Symbol Tomm40
Ensembl Gene ENSMUSG00000002984
Gene Name translocase of outer mitochondrial membrane 40
Synonyms Tom40
MMRRC Submission 038502-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0280 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 19435238-19449363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19447676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 118 (T118I)
Ref Sequence ENSEMBL: ENSMUSP00000104090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032555] [ENSMUST00000075447] [ENSMUST00000093552]
AlphaFold Q9QYA2
Predicted Effect probably damaging
Transcript: ENSMUST00000032555
AA Change: T118I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984
AA Change: T118I

DomainStartEndE-ValueType
low complexity region 8 69 N/A INTRINSIC
Pfam:Porin_3 79 355 7.7e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075447
SMART Domains Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
IGv 49 133 3.59e-14 SMART
IG_like 159 249 5.31e1 SMART
IG_like 261 338 8.12e1 SMART
transmembrane domain 351 373 N/A INTRINSIC
low complexity region 455 478 N/A INTRINSIC
low complexity region 486 496 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093552
AA Change: T118I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984
AA Change: T118I

DomainStartEndE-ValueType
low complexity region 8 69 N/A INTRINSIC
Pfam:Porin_3 79 355 1.5e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174476
Meta Mutation Damage Score 0.6870 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ankrd16 T G 2: 11,786,312 (GRCm39) V187G probably damaging Het
Ccdc110 A T 8: 46,396,487 (GRCm39) N793Y probably benign Het
Ccdc170 T C 10: 4,508,663 (GRCm39) I629T possibly damaging Het
Clcn6 A G 4: 148,093,172 (GRCm39) L836P probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crocc T C 4: 140,755,737 (GRCm39) E1097G probably damaging Het
Csmd1 A T 8: 16,321,616 (GRCm39) V494E probably damaging Het
Drg1 A T 11: 3,206,537 (GRCm39) probably null Het
Dscam T C 16: 96,840,206 (GRCm39) K134E possibly damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Esr1 A G 10: 4,806,951 (GRCm39) D289G probably benign Het
Esr1 G T 10: 4,889,289 (GRCm39) V396F probably damaging Het
Evi5l T C 8: 4,243,133 (GRCm39) V339A probably damaging Het
Fat4 A T 3: 38,944,965 (GRCm39) Q1286L probably benign Het
Fcsk A T 8: 111,621,380 (GRCm39) V188D probably damaging Het
Frem1 T C 4: 82,887,681 (GRCm39) H1118R probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm39) D321N probably benign Het
Gaa T G 11: 119,175,373 (GRCm39) V917G probably damaging Het
Gm973 GCC GC 1: 59,583,839 (GRCm39) probably null Het
Kidins220 A G 12: 25,060,140 (GRCm39) T767A probably damaging Het
Kif7 A G 7: 79,348,571 (GRCm39) S1257P probably benign Het
Ltn1 A G 16: 87,194,726 (GRCm39) L1391P probably damaging Het
Mast3 A G 8: 71,240,564 (GRCm39) V291A possibly damaging Het
Mast3 A G 8: 71,236,439 (GRCm39) Y681H probably damaging Het
Metrn C T 17: 26,014,109 (GRCm39) R239H probably benign Het
Mphosph10 C A 7: 64,026,451 (GRCm39) K666N possibly damaging Het
Mtbp C T 15: 55,449,857 (GRCm39) T433I probably benign Het
Mtmr2 A G 9: 13,710,545 (GRCm39) K365E probably damaging Het
Nanog A G 6: 122,690,357 (GRCm39) D229G probably damaging Het
Nkapd1 T C 9: 50,520,679 (GRCm39) T123A probably damaging Het
Npepps T C 11: 97,131,840 (GRCm39) N338S possibly damaging Het
Nphp4 T A 4: 152,636,393 (GRCm39) probably benign Het
Odad4 A T 11: 100,441,091 (GRCm39) K107N probably damaging Het
Or4g16 T C 2: 111,137,417 (GRCm39) F289S possibly damaging Het
Plcl2 A G 17: 50,914,062 (GRCm39) E357G probably damaging Het
Polb A T 8: 23,130,408 (GRCm39) Y173N probably damaging Het
R3hdm1 T A 1: 128,090,512 (GRCm39) S74T probably benign Het
Raet1d T A 10: 22,246,782 (GRCm39) C37S probably damaging Het
Reln G A 5: 22,432,511 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,541,197 (GRCm39) S369G probably damaging Het
Sgf29 A G 7: 126,270,743 (GRCm39) E108G probably benign Het
Sh3tc1 A G 5: 35,863,361 (GRCm39) L942P probably damaging Het
Slc22a27 A T 19: 7,874,187 (GRCm39) L188* probably null Het
Slc9a3 T A 13: 74,307,543 (GRCm39) I445N probably damaging Het
Sufu A T 19: 46,439,112 (GRCm39) probably benign Het
Ttn C T 2: 76,570,823 (GRCm39) R26690H probably damaging Het
Vmn2r16 A G 5: 109,488,005 (GRCm39) I293V possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vsig8 A G 1: 172,389,105 (GRCm39) D119G probably benign Het
Other mutations in Tomm40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Tomm40 APN 7 19,437,288 (GRCm39) missense probably benign 0.13
IGL01766:Tomm40 APN 7 19,437,007 (GRCm39) missense possibly damaging 0.93
IGL02831:Tomm40 APN 7 19,437,014 (GRCm39) missense probably damaging 1.00
IGL03178:Tomm40 APN 7 19,435,759 (GRCm39) missense probably damaging 0.98
PIT4131001:Tomm40 UTSW 7 19,437,016 (GRCm39) missense probably damaging 1.00
R1842:Tomm40 UTSW 7 19,447,650 (GRCm39) missense probably benign 0.41
R1913:Tomm40 UTSW 7 19,444,886 (GRCm39) missense probably damaging 0.98
R3702:Tomm40 UTSW 7 19,447,598 (GRCm39) missense possibly damaging 0.89
R4685:Tomm40 UTSW 7 19,435,761 (GRCm39) missense probably benign 0.06
R5165:Tomm40 UTSW 7 19,447,592 (GRCm39) critical splice donor site probably null
R5380:Tomm40 UTSW 7 19,435,675 (GRCm39) missense probably benign 0.27
R6026:Tomm40 UTSW 7 19,444,889 (GRCm39) missense probably benign 0.43
R6236:Tomm40 UTSW 7 19,437,281 (GRCm39) missense probably benign 0.15
R6994:Tomm40 UTSW 7 19,436,831 (GRCm39) missense probably damaging 0.98
R7206:Tomm40 UTSW 7 19,444,861 (GRCm39) missense probably benign 0.10
R7530:Tomm40 UTSW 7 19,436,829 (GRCm39) missense possibly damaging 0.82
R8419:Tomm40 UTSW 7 19,435,759 (GRCm39) missense probably damaging 0.98
R8698:Tomm40 UTSW 7 19,444,890 (GRCm39) missense probably benign 0.00
R8709:Tomm40 UTSW 7 19,444,703 (GRCm39) missense possibly damaging 0.76
R9525:Tomm40 UTSW 7 19,436,812 (GRCm39) missense probably damaging 1.00
Z1176:Tomm40 UTSW 7 19,437,019 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- AACACCTTGGCTGCTCACTTGC -3'
(R):5'- ATTCAGATAGCACTCCAATGGCACC -3'

Sequencing Primer
(F):5'- GCTGCTCACTTGCTCACC -3'
(R):5'- TCAAGAATTCCAGGGTGACTAC -3'
Posted On 2013-05-23