Incidental Mutation 'R4166:Tomm22'
ID 320605
Institutional Source Beutler Lab
Gene Symbol Tomm22
Ensembl Gene ENSMUSG00000022427
Gene Name translocase of outer mitochondrial membrane 22
Synonyms Tom22
MMRRC Submission 041639-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4166 (G1)
Quality Score 223
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (56/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,382,912 (GRCm39) T1018A possibly damaging Het
Aak1 T A 6: 86,827,044 (GRCm39) F4I probably damaging Het
Adamts8 G T 9: 30,862,684 (GRCm39) E296D probably benign Het
Ankrd35 T A 3: 96,586,471 (GRCm39) probably null Het
Arhgap20 G A 9: 51,738,135 (GRCm39) probably null Het
Bhmt T A 13: 93,762,007 (GRCm39) probably benign Het
Cacna1b C A 2: 24,567,923 (GRCm39) R1055L probably benign Het
Cdk5r1 A G 11: 80,369,035 (GRCm39) Y234C probably damaging Het
Cdx2 G T 5: 147,243,539 (GRCm39) A85D possibly damaging Het
Cenpe G A 3: 134,949,479 (GRCm39) G88D probably damaging Het
Cfap300 A T 9: 8,026,071 (GRCm39) L167Q probably damaging Het
Dennd5a A C 7: 109,526,032 (GRCm39) probably null Het
Erich6 G A 3: 58,526,229 (GRCm39) A591V probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fbln5 A G 12: 101,723,618 (GRCm39) V374A probably damaging Het
Fmn1 G A 2: 113,467,080 (GRCm39) S1327N probably benign Het
Fnip2 A T 3: 79,369,442 (GRCm39) V1081E 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
Gulp1 T A 1: 44,747,829 (GRCm39) Y27* probably null Het
Kdm3b A T 18: 34,928,797 (GRCm39) I183F probably benign Het
Loxhd1 A T 18: 77,460,025 (GRCm39) I758F probably damaging Het
Msi2 T C 11: 88,237,914 (GRCm39) H346R probably benign Het
Naip6 T A 13: 100,452,657 (GRCm39) I135F probably benign Het
Npr3 T G 15: 11,848,599 (GRCm39) E202A probably benign Het
Nsun4 A T 4: 115,891,248 (GRCm39) L377Q probably damaging Het
Oog2 A C 4: 143,921,411 (GRCm39) H107P probably damaging Het
Or14c40 C A 7: 86,313,602 (GRCm39) T244N probably damaging Het
Otof A G 5: 30,539,762 (GRCm39) L1032P probably damaging Het
Pcdh9 T A 14: 94,124,956 (GRCm39) R405* probably null 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
Prol1 A T 5: 88,476,530 (GRCm39) I307F unknown Het
Pycr1 T C 11: 120,532,949 (GRCm39) I104V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rb1cc1 T C 1: 6,335,887 (GRCm39) probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Skint3 A G 4: 112,112,832 (GRCm39) I147M possibly damaging Het
Slc22a14 T G 9: 119,007,498 (GRCm39) M304L probably benign Het
Slc22a14 T C 9: 119,008,934 (GRCm39) N178S possibly damaging Het
Slc2a1 T G 4: 118,990,313 (GRCm39) I179S probably damaging Het
Slco2b1 G T 7: 99,309,333 (GRCm39) T666N probably benign Het
Smap1 T C 1: 23,887,506 (GRCm39) M258V probably benign Het
Smr3a A T 5: 88,156,013 (GRCm39) probably benign Het
Stt3b T A 9: 115,083,969 (GRCm39) E402D probably damaging Het
Sync T C 4: 129,200,535 (GRCm39) probably benign Het
Tbx20 T A 9: 24,681,040 (GRCm39) I151F probably damaging Het
Trank1 C A 9: 111,202,592 (GRCm39) Y1652* probably null Het
Trim34a T A 7: 103,910,223 (GRCm39) C342S probably benign Het
Txnl4a T A 18: 80,265,471 (GRCm39) M112K probably benign Het
Zfp146 A G 7: 29,861,865 (GRCm39) V59A possibly damaging 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
R4165: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'- TCGGGAAACATCTCCGTCAG -3'

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