Incidental Mutation 'R1586:Tomm5'
ID 177495
Institutional Source Beutler Lab
Gene Symbol Tomm5
Ensembl Gene ENSMUSG00000078713
Gene Name translocase of outer mitochondrial membrane 5
Synonyms 1110019J04Rik
MMRRC Submission 039623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R1586 (G1)
Quality Score 136
Status Validated
Chromosome 4
Chromosomal Location 45105209-45108113 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 45107915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107807] [ENSMUST00000107807] [ENSMUST00000107808] [ENSMUST00000107809] [ENSMUST00000107810]
AlphaFold B1AXP6
Predicted Effect probably null
Transcript: ENSMUST00000107807
Predicted Effect probably null
Transcript: ENSMUST00000107807
Predicted Effect probably benign
Transcript: ENSMUST00000107808
AA Change: V40A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103438
Gene: ENSMUSG00000078713
AA Change: V40A

DomainStartEndE-ValueType
Pfam:TOM_sub5 1 47 9.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107809
AA Change: V40A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103439
Gene: ENSMUSG00000078713
AA Change: V40A

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
AA Change: V40A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103440
Gene: ENSMUSG00000078713
AA Change: V40A

DomainStartEndE-ValueType
Pfam:TOM_sub5 1 51 9.1e-40 PFAM
Meta Mutation Damage Score 0.2604 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 93% (65/70)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,337,228 (GRCm39) A2361V probably damaging Het
Alpi A G 1: 87,027,923 (GRCm39) I219T probably damaging Het
Anapc10 T A 8: 80,501,772 (GRCm39) M180K probably benign Het
Ank3 A G 10: 69,713,708 (GRCm39) I431V probably damaging Het
Anxa8 T A 14: 33,815,894 (GRCm39) D182E probably damaging Het
Atp1a3 T A 7: 24,678,808 (GRCm39) I945F probably damaging Het
Atp2a3 T C 11: 72,882,570 (GRCm39) S1019P probably damaging Het
Cbs T A 17: 31,841,448 (GRCm39) I258F probably damaging Het
Cic T C 7: 24,985,386 (GRCm39) S277P probably damaging Het
Cidea T A 18: 67,493,230 (GRCm39) V83E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca3a2 A G 3: 144,516,477 (GRCm39) I373T possibly damaging Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Cryz A G 3: 154,317,147 (GRCm39) N122S probably benign Het
Dmap1 T C 4: 117,533,319 (GRCm39) E245G probably damaging Het
Epha2 C T 4: 141,045,916 (GRCm39) probably benign Het
Fam222b C T 11: 78,045,347 (GRCm39) L303F probably damaging Het
Fastkd1 T C 2: 69,542,492 (GRCm39) D105G probably benign Het
Fat4 T A 3: 38,943,009 (GRCm39) L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fig4 A G 10: 41,141,423 (GRCm39) F279L probably damaging Het
Guk1 A G 11: 59,077,675 (GRCm39) S22P probably damaging Het
Kmt2d A G 15: 98,762,934 (GRCm39) probably benign Het
Macf1 A T 4: 123,403,639 (GRCm39) S727T probably benign Het
Mki67 T A 7: 135,315,701 (GRCm39) K54* probably null Het
Ms4a8a T C 19: 11,053,696 (GRCm39) T137A possibly damaging Het
Myo5c T C 9: 75,174,313 (GRCm39) Y557H probably damaging Het
Nav3 T A 10: 109,689,115 (GRCm39) K387N probably damaging Het
Oga T G 19: 45,765,349 (GRCm39) T153P possibly damaging Het
Or5bb10 G T 19: 12,206,241 (GRCm39) A223E probably damaging Het
Pde4c T A 8: 71,199,508 (GRCm39) Y223N probably damaging Het
Psd T G 19: 46,303,237 (GRCm39) E715A probably damaging Het
Rpl7 A T 1: 16,172,807 (GRCm39) S171T probably benign Het
Rrm1 A G 7: 102,116,112 (GRCm39) *66W probably null Het
Scgb1b3 T A 7: 31,075,388 (GRCm39) H79Q probably damaging Het
Serpinb9 A T 13: 33,199,469 (GRCm39) M255L probably benign Het
Slc35a4 T C 18: 36,816,058 (GRCm39) V296A probably benign Het
Smgc G A 15: 91,722,596 (GRCm39) A9T possibly damaging Het
Snx11 C A 11: 96,661,522 (GRCm39) W161L probably benign Het
Spag17 A G 3: 99,929,068 (GRCm39) K533E possibly damaging Het
Spata31g1 A G 4: 42,971,512 (GRCm39) I282V probably benign Het
Speer4b A G 5: 27,702,011 (GRCm39) S250P probably damaging Het
Spta1 A T 1: 174,041,061 (GRCm39) H1287L probably benign Het
Surf2 T C 2: 26,809,767 (GRCm39) F239S probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tbc1d22a C A 15: 86,235,852 (GRCm39) probably null Het
Tbcd A G 11: 121,387,886 (GRCm39) Q339R probably benign Het
Tdrd7 A G 4: 45,994,445 (GRCm39) H281R probably benign Het
Ttc7 T C 17: 87,669,373 (GRCm39) probably null Het
Ulk1 A T 5: 110,937,382 (GRCm39) F638Y probably damaging Het
Vps35l T A 7: 118,409,195 (GRCm39) I612N probably damaging Het
Wdr93 C A 7: 79,418,109 (GRCm39) D277E probably damaging Het
Znrf3 T C 11: 5,231,477 (GRCm39) R583G probably damaging Het
Zscan29 T A 2: 120,991,641 (GRCm39) I716F 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
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
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'- TGGGCGAGCAAAGGTGACTTAACC -3'
(R):5'- GTTCCCGTCACAGGACAGAAACAAG -3'

Sequencing Primer
(F):5'- ACGTGCACTGGGCACAT -3'
(R):5'- GCTAAGTTCCGGGTGCAG -3'
Posted On 2014-04-24