Incidental Mutation 'IGL03178:Tomm40'
ID412072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tomm40
Ensembl Gene ENSMUSG00000002984
Gene Nametranslocase of outer mitochondrial membrane 40
SynonymsTom40
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03178
Quality Score
Status
Chromosome7
Chromosomal Location19701313-19715438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 19701834 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 324 (V324M)
Ref Sequence ENSEMBL: ENSMUSP00000104090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003066] [ENSMUST00000032555] [ENSMUST00000093552] [ENSMUST00000172705] [ENSMUST00000172808] [ENSMUST00000172983] [ENSMUST00000173739] [ENSMUST00000174064] [ENSMUST00000174144] [ENSMUST00000174191] [ENSMUST00000174355] [ENSMUST00000174710]
Predicted Effect probably benign
Transcript: ENSMUST00000003066
SMART Domains Protein: ENSMUSP00000003066
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 72 291 3.8e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000032555
AA Change: V324M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984
AA Change: V324M

DomainStartEndE-ValueType
low complexity region 8 69 N/A INTRINSIC
Pfam:Porin_3 79 355 7.7e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093552
AA Change: V324M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984
AA Change: V324M

DomainStartEndE-ValueType
low complexity region 8 69 N/A INTRINSIC
Pfam:Porin_3 79 355 1.5e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167646
SMART Domains Protein: ENSMUSP00000132032
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 72 201 1.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172705
SMART Domains Protein: ENSMUSP00000133975
Gene: ENSMUSG00000002984

DomainStartEndE-ValueType
Pfam:Porin_3 1 61 3.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172808
SMART Domains Protein: ENSMUSP00000134558
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Apolipoprotein 61 146 8.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172983
SMART Domains Protein: ENSMUSP00000133359
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 72 232 1.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173739
SMART Domains Protein: ENSMUSP00000133371
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 72 291 3.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174064
SMART Domains Protein: ENSMUSP00000133302
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 73 284 2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174144
SMART Domains Protein: ENSMUSP00000134622
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 72 232 1.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174191
SMART Domains Protein: ENSMUSP00000133447
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
PDB:1YA9|A 20 70 8e-31 PDB
SCOP:d1nfn__ 34 70 5e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174355
SMART Domains Protein: ENSMUSP00000134160
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 72 291 3.8e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174476
Predicted Effect probably benign
Transcript: ENSMUST00000174710
SMART Domains Protein: ENSMUSP00000134429
Gene: ENSMUSG00000002985

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
PDB:1YA9|A 20 70 8e-31 PDB
SCOP:d1nfn__ 34 70 5e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208286
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,614,245 probably null Het
Alpk1 A T 3: 127,680,221 L711* probably null Het
Arfgef3 A T 10: 18,613,225 W1291R probably damaging Het
Arhgef10l A G 4: 140,544,428 V545A possibly damaging Het
Best3 A G 10: 116,988,779 Y50C probably damaging Het
C1qtnf2 C A 11: 43,490,989 D179E probably damaging Het
C87977 A G 4: 144,208,251 probably null Het
Cdc40 A T 10: 40,847,989 S268T probably benign Het
Ces1a C T 8: 93,020,889 G505R probably damaging Het
Cpd A T 11: 76,806,051 N683K probably benign Het
D430041D05Rik A T 2: 104,221,211 I767N probably damaging Het
Diras1 G T 10: 81,022,377 F13L possibly damaging Het
Dnah7c A G 1: 46,467,365 N201D probably benign Het
Dpy19l3 A T 7: 35,729,729 Y9* probably null Het
Ect2 T A 3: 27,148,860 I79L probably benign Het
Eif2b4 A T 5: 31,187,653 I550N probably damaging Het
Enpp2 T A 15: 54,866,006 M476L probably benign Het
Gm20425 A G 9: 103,210,552 Y654H probably damaging Het
Gm5884 T C 6: 128,645,727 noncoding transcript Het
Gm7257 T G 9: 36,432,836 S38R probably benign Het
Gtf3c6 A T 10: 40,249,722 D166E probably benign Het
Gucy2c A T 6: 136,729,239 probably benign Het
Inpp5b A G 4: 124,785,254 T485A probably benign Het
Insrr A G 3: 87,802,541 probably null Het
Lig3 T C 11: 82,789,722 probably benign Het
Lmo7 T A 14: 101,929,260 Y1047* probably null Het
Map4k4 A G 1: 39,986,693 E281G possibly damaging Het
Mmel1 A G 4: 154,890,854 T431A possibly damaging Het
Myh10 T C 11: 68,699,413 V58A probably benign Het
Myo1e A T 9: 70,286,949 H14L possibly damaging Het
Myo1g C T 11: 6,512,181 V594M probably damaging Het
Nr4a2 G A 2: 57,110,766 R226C probably damaging Het
Obox3 A G 7: 15,627,277 L21P probably benign Het
Olfr1383 A G 11: 49,523,990 D89G possibly damaging Het
Phlpp1 T A 1: 106,392,388 I1371N probably damaging Het
Proser3 G A 7: 30,543,609 A181V probably damaging Het
Pudp A T 18: 50,568,401 L87Q probably benign Het
Siglecf T C 7: 43,358,739 S559P probably damaging Het
Slc22a16 A G 10: 40,573,760 H85R probably benign Het
Spata32 T C 11: 103,210,762 D15G probably benign Het
Spata5 T C 3: 37,578,783 L846P probably damaging Het
Szt2 G A 4: 118,382,689 A1899V unknown Het
Tcrg-V7 C A 13: 19,178,041 probably benign Het
Ttll4 C T 1: 74,680,408 P25S probably damaging Het
Vps13b G T 15: 35,869,300 C2650F probably damaging Het
Wdr83os T C 8: 85,081,241 L40P probably damaging Het
Zfp977 T C 7: 42,582,648 R64G probably damaging Het
Other mutations in Tomm40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Tomm40 APN 7 19703363 missense probably benign 0.13
IGL01766:Tomm40 APN 7 19703082 missense possibly damaging 0.93
IGL02831:Tomm40 APN 7 19703089 missense probably damaging 1.00
PIT4131001:Tomm40 UTSW 7 19703091 missense probably damaging 1.00
R0280:Tomm40 UTSW 7 19713751 missense probably damaging 1.00
R1842:Tomm40 UTSW 7 19713725 missense probably benign 0.41
R1913:Tomm40 UTSW 7 19710961 missense probably damaging 0.98
R3702:Tomm40 UTSW 7 19713673 missense possibly damaging 0.89
R4685:Tomm40 UTSW 7 19701836 missense probably benign 0.06
R5165:Tomm40 UTSW 7 19713667 critical splice donor site probably null
R5380:Tomm40 UTSW 7 19701750 missense probably benign 0.27
R6026:Tomm40 UTSW 7 19710964 missense probably benign 0.43
R6236:Tomm40 UTSW 7 19703356 missense probably benign 0.15
R6994:Tomm40 UTSW 7 19702906 missense probably damaging 0.98
R7206:Tomm40 UTSW 7 19710936 missense probably benign 0.10
R7530:Tomm40 UTSW 7 19702904 missense possibly damaging 0.82
Posted On2016-08-02