Incidental Mutation 'R9633:Tomm5'
ID 725653
Institutional Source Beutler Lab
Gene Symbol Tomm5
Ensembl Gene ENSMUSG00000078713
Gene Name translocase of outer mitochondrial membrane 5
Synonyms 1110019J04Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R9633 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 45105209-45108113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45107982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 18 (R18W)
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
AA Change: R18W

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably damaging
Transcript: ENSMUST00000107808
AA Change: R18W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103438
Gene: ENSMUSG00000078713
AA Change: R18W

DomainStartEndE-ValueType
Pfam:TOM_sub5 1 47 9.3e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107809
AA Change: R18W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103439
Gene: ENSMUSG00000078713
AA Change: R18W

DomainStartEndE-ValueType
Pfam:TOM_sub5 1 45 2.2e-29 PFAM
low complexity region 88 96 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107810
AA Change: R18W

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103440
Gene: ENSMUSG00000078713
AA Change: R18W

DomainStartEndE-ValueType
Pfam:TOM_sub5 1 51 9.1e-40 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,613,178 (GRCm39) V319A probably damaging Het
Afap1l1 A C 18: 61,890,795 (GRCm39) S53A possibly damaging Het
Alms1 T A 6: 85,600,125 (GRCm39) N1650K probably damaging Het
Atf6b T A 17: 34,872,507 (GRCm39) V553E possibly damaging Het
Avl9 T A 6: 56,707,634 (GRCm39) I193N probably damaging Het
Ceacam3 A G 7: 16,895,688 (GRCm39) N553D Het
Dnah3 C A 7: 119,550,216 (GRCm39) V389L probably benign Het
Erich6 T C 3: 58,537,277 (GRCm39) M246V probably benign Het
F830016B08Rik A T 18: 60,432,965 (GRCm39) D16V probably damaging Het
Fgfr1 T A 8: 26,060,776 (GRCm39) Y483N probably damaging Het
Fmo4 T A 1: 162,631,191 (GRCm39) M259L probably benign Het
Gnat2 T A 3: 108,002,770 (GRCm39) D59E probably benign Het
Izumo3 T A 4: 92,034,795 (GRCm39) Y94F probably damaging Het
Kcnb2 A T 1: 15,781,444 (GRCm39) H772L probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Krt6b C T 15: 101,586,996 (GRCm39) V259M probably benign Het
Lingo2 A G 4: 35,709,885 (GRCm39) C32R Het
Lrrtm4 C T 6: 80,000,064 (GRCm39) T492M probably damaging Het
Maea T A 5: 33,526,050 (GRCm39) M242K possibly damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mmadhc A T 2: 50,178,988 (GRCm39) S143R probably benign Het
Ms4a8a A G 19: 11,056,956 (GRCm39) V42A probably benign Het
N4bp2l2 A T 5: 150,585,103 (GRCm39) H292Q probably benign Het
Nkx2-2 A G 2: 147,027,686 (GRCm39) Y85H possibly damaging Het
Pramel14 T C 4: 143,720,818 (GRCm39) K41R possibly damaging Het
Psmb9 T A 17: 34,402,119 (GRCm39) D159V probably damaging Het
Rgs4 T A 1: 169,572,843 (GRCm39) D31V possibly damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc22a14 A G 9: 119,008,528 (GRCm39) S247P probably benign Het
Slc26a7 G A 4: 14,524,540 (GRCm39) T448I possibly damaging Het
Slc7a14 T A 3: 31,278,166 (GRCm39) T480S probably benign Het
Spocd1 T C 4: 129,850,463 (GRCm39) S830P unknown Het
Sycp2 A G 2: 177,998,254 (GRCm39) S1089P probably damaging Het
Tcf4 A T 18: 69,726,382 (GRCm39) probably benign Het
Tktl2 T C 8: 66,965,813 (GRCm39) V457A probably benign Het
Tmem131 A T 1: 36,847,069 (GRCm39) I1343N probably damaging Het
Tnrc6c G A 11: 117,638,009 (GRCm39) A1164T probably damaging Het
Ubxn7 T C 16: 32,200,248 (GRCm39) S335P probably benign Het
Unc5c A C 3: 141,495,654 (GRCm39) T508P probably damaging Het
Upp1 G A 11: 9,084,909 (GRCm39) M209I Het
Vmn1r213 A G 13: 23,195,519 (GRCm39) D34G unknown Het
Vmn1r235 G T 17: 21,482,330 (GRCm39) W218C possibly damaging Het
Vmn1r235 G T 17: 21,482,329 (GRCm39) W218L probably benign Het
Vmn2r57 T C 7: 41,076,006 (GRCm39) E502G probably benign Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Zfc3h1 T A 10: 115,247,852 (GRCm39) H1018Q probably damaging Het
Zfp318 T A 17: 46,710,421 (GRCm39) S715T probably damaging 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
RF030:Tomm5 UTSW 4 45,107,973 (GRCm39) small insertion probably benign
RF034:Tomm5 UTSW 4 45,107,976 (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'- AGGTGACTTAACCACGCGTC -3'
(R):5'- GTTCCCGTCACAGGACAGAAAC -3'

Sequencing Primer
(F):5'- AGTCCTGGACGTGCAAGCAC -3'
(R):5'- CGTCACAGGACAGAAACAAGGG -3'
Posted On 2022-09-12