Incidental Mutation 'RF034:Tomm5'
ID 604481
Institutional Source Beutler Lab
Gene Symbol Tomm5
Ensembl Gene ENSMUSG00000078713
Gene Name translocase of outer mitochondrial membrane 5
Synonyms 1110019J04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # RF034 (G1)
Quality Score 126.467
Status Not validated
Chromosome 4
Chromosomal Location 45105209-45108113 bp(-) (GRCm39)
Type of Mutation small insertion (3 aa in frame mutation)
DNA Base Change (assembly) TCTTCCGC to TCTTCCGCAGCTTCCGC at 45107976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107807] [ENSMUST00000107808] [ENSMUST00000107809] [ENSMUST00000107810]
AlphaFold B1AXP6
Predicted Effect probably benign
Transcript: ENSMUST00000107807
Predicted Effect probably benign
Transcript: ENSMUST00000107808
SMART Domains Protein: ENSMUSP00000103438
Gene: ENSMUSG00000078713

DomainStartEndE-ValueType
Pfam:TOM_sub5 1 47 9.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107809
SMART Domains Protein: ENSMUSP00000103439
Gene: ENSMUSG00000078713

DomainStartEndE-ValueType
Pfam:TOM_sub5 1 45 2.2e-29 PFAM
low complexity region 88 96 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107810
SMART Domains Protein: ENSMUSP00000103440
Gene: ENSMUSG00000078713

DomainStartEndE-ValueType
Pfam:TOM_sub5 1 51 9.1e-40 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit partial neonatal lethality, cryptogenic organizing pneumonia, intra-alveolar fibrosis, diffuse moderate eosinophilic granulocytosis in the bone marrow, and thymus atrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TGTGGCTGC TGTGGCTGCGGTGGCTGC 1: 82,891,301 (GRCm39) probably benign Het
Acap3 GCATCCTGGGCTGCT GCATCCTGGGCTGCTACATCCTGGGCTGCT 4: 155,989,549 (GRCm39) probably benign Het
Alpk3 GAGAAGGCAC G 7: 80,742,162 (GRCm39) probably benign Het
Bltp1 T TTATTATGATTATTAC 3: 37,104,909 (GRCm39) probably benign Het
Cox7a2l GGA GGATGGGGA 17: 83,810,151 (GRCm39) probably benign Het
Cpne1 TCCAC TC 2: 155,915,430 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGATGTGACAGACACACTG CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG 9: 86,922,470 (GRCm39) probably benign Het
Cyb5r4 GA GATGTGACAGACACACTGCCCAGGTA 9: 86,922,500 (GRCm39) probably null Het
Defb22 TGCGGCA TGCGGCAGGGCTGGCCTTTGCGGCA 2: 152,327,752 (GRCm39) probably benign Het
Dnmt1 GGGCGGAGCACAGTTCCTACCTCGTT GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT 9: 20,821,416 (GRCm39) probably null Het
Fbrsl1 GTG GTGCGTGTGCTGTTG 5: 110,526,015 (GRCm39) probably benign Het
Frem3 GATC GATCATC 8: 81,341,867 (GRCm39) probably benign Het
Gabre GCTC GCTCTGTCTC X: 71,314,368 (GRCm39) probably benign Het
Garin5a GGGTCTGAGGGAGGA GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA 7: 44,149,947 (GRCm39) probably null Het
Gm15155 CAA CAACAACAAA X: 155,128,636 (GRCm39) probably null Het
Igf1r GGAGATGGAGC GGAGATGGAGCTAGAGATGGAGC 7: 67,875,924 (GRCm39) probably benign Het
Krtap28-10 CACCACAGC CACCACAGCCACAGCGACCACAGC 1: 83,020,003 (GRCm39) probably benign Het
Mamld1 AGC AGCGGC X: 70,162,441 (GRCm39) probably benign Het
Map1a CCAGCTCCAGCTCCA CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA 2: 121,136,785 (GRCm39) probably benign Het
Map1a GCTCCAGCTCCA GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA 2: 121,136,788 (GRCm39) probably benign Het
Neu1 TCTTCTA T 17: 35,151,534 (GRCm39) probably benign Het
Nolc1 CAGCAGC CAGCAGCAGAAGCAGC 19: 46,069,810 (GRCm39) probably benign Het
Or7g32 G T 9: 19,388,928 (GRCm39) A206E possibly damaging Het
Pdik1l TTTT TTTTGTTTTTGGTTT 4: 134,006,685 (GRCm39) probably null Het
Rassf6 CACTCATGGTCCTGTAGAGCAATGGGGATTC CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC 5: 90,756,771 (GRCm39) probably benign Het
Rassf6 CTGTAGAGCAATGGGGATTC CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC 5: 90,756,782 (GRCm39) probably benign Het
Rassf6 ATGGTCCTGTAGAGCAATGGGGATTC ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC 5: 90,756,776 (GRCm39) probably benign Het
Rpgrip1 AGAGGAGGA AGA 14: 52,386,983 (GRCm39) probably benign Het
Rprd2 AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC AGAGGCTGTGGTGCTC 3: 95,673,632 (GRCm39) probably benign Het
Rsf1 CG CGAGG 7: 97,229,115 (GRCm39) probably benign Het
Rtbdn GCGGC GCGGCATCGGC 8: 85,682,804 (GRCm39) probably benign Het
Smarca2 CA CACCAAGA 19: 26,608,411 (GRCm39) probably benign Het
Tfeb GCA GCACCA 17: 48,097,022 (GRCm39) probably benign Het
Tfeb CAG CAGTAG 17: 48,097,023 (GRCm39) probably null Het
Tmed6 AGC AGCTGGC 8: 107,788,228 (GRCm39) probably null Het
Trappc9 TG TGATGCTGCTGCTGCGG 15: 72,673,147 (GRCm39) probably benign Het
Other mutations in Tomm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4340:Tomm5 UTSW 4 45,107,973 (GRCm39) small insertion probably benign
FR4548:Tomm5 UTSW 4 45,107,977 (GRCm39) small insertion probably benign
R1586:Tomm5 UTSW 4 45,107,915 (GRCm39) critical splice donor site probably null
R1867:Tomm5 UTSW 4 45,107,939 (GRCm39) missense probably damaging 0.97
R5428:Tomm5 UTSW 4 45,106,689 (GRCm39) intron probably benign
R5590:Tomm5 UTSW 4 45,106,679 (GRCm39) intron probably benign
R6825:Tomm5 UTSW 4 45,106,443 (GRCm39) splice site probably null
R7793:Tomm5 UTSW 4 45,106,651 (GRCm39) missense unknown
R7946:Tomm5 UTSW 4 45,107,969 (GRCm39) missense probably benign 0.18
R9154:Tomm5 UTSW 4 45,106,724 (GRCm39) missense unknown
R9633:Tomm5 UTSW 4 45,107,982 (GRCm39) missense probably damaging 0.98
RF030:Tomm5 UTSW 4 45,107,973 (GRCm39) small insertion probably benign
RF036:Tomm5 UTSW 4 45,107,973 (GRCm39) small insertion probably benign
RF047:Tomm5 UTSW 4 45,107,974 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TGACTTAACCACGCGTCCTC -3'
(R):5'- ATGAAATTTTCCCCTCACAGGTTC -3'

Sequencing Primer
(F):5'- AGTCCTGGACGTGCAAGCAC -3'
(R):5'- TCACAGGTTCCCGTCACAG -3'
Posted On 2019-12-04