Incidental Mutation 'R9465:Tomm22'
ID 715139
Institutional Source Beutler Lab
Gene Symbol Tomm22
Ensembl Gene ENSMUSG00000022427
Gene Name translocase of outer mitochondrial membrane 22
Synonyms Tom22
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9465 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 79555069-79557063 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79555468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 71 (L71P)
Ref Sequence ENSEMBL: ENSMUSP00000023062 (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 probably damaging
Transcript: ENSMUST00000023062
AA Change: L71P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023062
Gene: ENSMUSG00000022427
AA Change: L71P

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 damaging
Transcript: ENSMUST00000127292
AA Change: L18P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000229502
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A C 4: 123,754,317 (GRCm39) H77P possibly damaging Het
Adcy7 G T 8: 89,046,778 (GRCm39) R587L probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg4a-ps C T 3: 103,553,101 (GRCm39) R80H probably damaging Het
Btd G A 14: 31,389,643 (GRCm39) D455N probably benign Het
Cadps A G 14: 12,489,002 (GRCm38) S852P possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Cyp2j5 T C 4: 96,522,551 (GRCm39) D341G probably damaging Het
Dennd5b A G 6: 148,908,260 (GRCm39) V1011A probably damaging Het
Dlgap2 G A 8: 14,828,226 (GRCm39) E545K probably damaging Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Gigyf2 A G 1: 87,334,775 (GRCm39) D262G unknown Het
Gstm3 T C 3: 107,873,431 (GRCm39) N180S possibly damaging Het
Helz2 G T 2: 180,874,710 (GRCm39) T1928K probably benign Het
Hipk4 T A 7: 27,229,160 (GRCm39) S537T probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Il24 T C 1: 130,813,462 (GRCm39) Q45R probably benign Het
Kcnh1 G A 1: 191,924,233 (GRCm39) G149E probably damaging Het
Krtap4-2 A G 11: 99,525,391 (GRCm39) S154P unknown Het
Marveld3 T A 8: 110,688,525 (GRCm39) H72L possibly damaging Het
Med1 T C 11: 98,049,144 (GRCm39) T551A probably benign Het
Mtor T A 4: 148,624,839 (GRCm39) I2150N possibly damaging Het
Ninl A G 2: 150,782,726 (GRCm39) S170P possibly damaging Het
Or1j14 T C 2: 36,417,898 (GRCm39) V158A probably benign Het
Or6aa1 T C 7: 86,043,864 (GRCm39) I281V probably benign Het
Otog T C 7: 45,955,299 (GRCm39) V563A possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Phkb G A 8: 86,623,059 (GRCm39) V128I probably damaging Het
Ppp2r3d A G 9: 124,442,222 (GRCm38) L50P Het
Prl2c5 C T 13: 13,360,531 (GRCm39) S66L probably benign Het
Ptbp1 T C 10: 79,695,615 (GRCm39) S239P possibly damaging Het
Repin1 A G 6: 48,571,877 (GRCm39) K41E probably benign Het
Scrn1 A T 6: 54,502,649 (GRCm39) I130N probably damaging Het
Spata31 T A 13: 65,068,527 (GRCm39) L225Q probably damaging Het
Spred1 G A 2: 116,983,648 (GRCm39) probably null Het
Taar7e A G 10: 23,914,310 (GRCm39) R267G possibly damaging Het
Tgm5 T A 2: 120,905,633 (GRCm39) Y174F probably damaging Het
Tmprss11f T C 5: 86,685,876 (GRCm39) I164V probably damaging Het
Ttn C A 2: 76,577,531 (GRCm39) G24454V probably damaging Het
Wdr64 A G 1: 175,618,823 (GRCm39) S739G possibly damaging Het
Zswim2 C T 2: 83,746,275 (GRCm39) V388I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATTACTCCCGAAAGCCGAGG -3'
(R):5'- TAGTCTCATAACGACCCCGC -3'

Sequencing Primer
(F):5'- ACGAGGTGCTAGGGCTG -3'
(R):5'- GCCAGGTTAAGAACTCCCTTCTGG -3'
Posted On 2022-06-15