Incidental Mutation 'R4165:Tomm22'
ID 321708
Institutional Source Beutler Lab
Gene Symbol Tomm22
Ensembl Gene ENSMUSG00000022427
Gene Name translocase of outer mitochondrial membrane 22
Synonyms Tom22
MMRRC Submission 041007-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4165 (G1)
Quality Score 182
Status Validated
Chromosome 15
Chromosomal Location 79555069-79557063 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 79555206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023061] [ENSMUST00000023062] [ENSMUST00000023064] [ENSMUST00000127292] [ENSMUST00000229502]
AlphaFold Q9CPQ3
Predicted Effect probably benign
Transcript: ENSMUST00000023061
SMART Domains Protein: ENSMUSP00000023061
Gene: ENSMUSG00000022426

DomainStartEndE-ValueType
Josephin 30 190 2.4e-81 SMART
Predicted Effect unknown
Transcript: ENSMUST00000023062
AA Change: D38E
SMART Domains Protein: ENSMUSP00000023062
Gene: ENSMUSG00000022427
AA Change: D38E

DomainStartEndE-ValueType
Pfam:Tom22 9 121 1.8e-16 PFAM
low complexity region 126 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000023064
SMART Domains Protein: ENSMUSP00000023064
Gene: ENSMUSG00000022428

DomainStartEndE-ValueType
Pfam:Chibby 1 116 1.4e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127292
Predicted Effect unknown
Transcript: ENSMUST00000229502
AA Change: D38E
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 97% (38/39)
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 an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,827,044 (GRCm39) F4I probably damaging Het
Adamts8 G T 9: 30,862,684 (GRCm39) E296D probably benign Het
Alg11 T C 8: 22,555,573 (GRCm39) V278A probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Avil C T 10: 126,842,496 (GRCm39) Q92* probably null Het
Cfap300 A T 9: 8,026,071 (GRCm39) L167Q probably damaging Het
CK137956 A T 4: 127,864,522 (GRCm39) S36T possibly damaging Het
Epb41l3 T C 17: 69,514,883 (GRCm39) S7P probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fsd2 T C 7: 81,195,608 (GRCm39) T434A probably damaging Het
Gm5174 A G 10: 86,492,797 (GRCm39) noncoding transcript Het
Gpaa1 A C 15: 76,216,667 (GRCm39) probably benign Het
Grina T A 15: 76,133,529 (GRCm39) L334Q probably damaging Het
Gvin-ps5 T A 7: 105,929,895 (GRCm39) noncoding transcript Het
Igkv15-103 G T 6: 68,414,824 (GRCm39) G88* probably null Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm3b A T 18: 34,928,797 (GRCm39) I183F probably benign Het
Kyat3 A G 3: 142,432,066 (GRCm39) probably null Het
Larp7 A G 3: 127,330,611 (GRCm39) Y569H probably benign Het
Loxhd1 A T 18: 77,460,025 (GRCm39) I758F probably damaging Het
Nr1d2 T C 14: 18,215,446 (GRCm38) I189V probably benign Het
Odad2 A T 18: 7,217,008 (GRCm39) I668K probably damaging Het
Pcdhb19 T A 18: 37,632,243 (GRCm39) N679K probably benign Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prap1 T A 7: 139,676,091 (GRCm39) V35E probably benign Het
Prdm1 T A 10: 44,317,572 (GRCm39) Y417F probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rps3 T C 7: 99,132,816 (GRCm39) I5V probably benign Het
Sema3a A T 5: 13,523,364 (GRCm39) probably null Het
Serpina3g A T 12: 104,206,546 (GRCm39) T116S probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc22a28 A G 19: 8,040,773 (GRCm39) S493P possibly damaging Het
Snapc1 G T 12: 74,029,354 (GRCm39) probably null Het
Sobp C T 10: 42,897,644 (GRCm39) G647D probably damaging Het
Trappc11 T C 8: 47,978,003 (GRCm39) probably benign Het
Txnl4a T A 18: 80,265,471 (GRCm39) M112K probably benign Het
Vmn2r16 T C 5: 109,478,427 (GRCm39) F61L possibly damaging Het
Zfp709 C T 8: 72,644,649 (GRCm39) Q693* probably null Het
Other mutations in Tomm22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Tomm22 APN 15 79,556,099 (GRCm39) missense probably damaging 1.00
R2264:Tomm22 UTSW 15 79,555,488 (GRCm39) missense probably damaging 1.00
R3710:Tomm22 UTSW 15 79,555,419 (GRCm39) missense probably damaging 1.00
R4166:Tomm22 UTSW 15 79,555,206 (GRCm39) unclassified probably benign
R5268:Tomm22 UTSW 15 79,555,428 (GRCm39) missense probably benign 0.00
R8773:Tomm22 UTSW 15 79,555,311 (GRCm39) intron probably benign
R9465:Tomm22 UTSW 15 79,555,468 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACGCTTTCTCTCTAGCCAG -3'
(R):5'- GGAAACATCTCCGTCAGACC -3'

Sequencing Primer
(F):5'- CTTCCGGAAGACGCTCTG -3'
(R):5'- ACAGGGTCTCGTCTAGCTG -3'
Posted On 2015-06-12