Incidental Mutation 'R7054:Timm22'
ID 547793
Institutional Source Beutler Lab
Gene Symbol Timm22
Ensembl Gene ENSMUSG00000020843
Gene Name translocase of inner mitochondrial membrane 22
Synonyms 2610511O07Rik
MMRRC Submission 045151-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7054 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 76297778-76307118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76298071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 14 (E14G)
Ref Sequence ENSEMBL: ENSMUSP00000132836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021203] [ENSMUST00000120699] [ENSMUST00000152183] [ENSMUST00000164102]
AlphaFold Q9CQ85
Predicted Effect probably benign
Transcript: ENSMUST00000021203
AA Change: E14G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021203
Gene: ENSMUSG00000020843
AA Change: E14G

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Tim17 68 190 1.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120699
SMART Domains Protein: ENSMUSP00000113238
Gene: ENSMUSG00000020843

DomainStartEndE-ValueType
Pfam:Tim17 12 140 4.5e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152183
AA Change: E14G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123281
Gene: ENSMUSG00000020843
AA Change: E14G

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164102
AA Change: E14G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132836
Gene: ENSMUSG00000020843
AA Change: E14G

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (67/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T A 4: 88,786,486 (GRCm39) H44L unknown Het
Abcc3 T C 11: 94,256,051 (GRCm39) K478R probably benign Het
Ank2 A T 3: 126,736,952 (GRCm39) probably benign Het
Apod A G 16: 31,129,950 (GRCm39) V2A probably benign Het
Armh4 C A 14: 50,011,155 (GRCm39) S184I probably damaging Het
Aspg T A 12: 112,092,824 (GRCm39) D530E probably damaging Het
Atxn7 A T 14: 14,100,878 (GRCm38) T855S probably benign Het
Blmh G C 11: 76,859,451 (GRCm39) G351R probably damaging Het
Cc2d2a C T 5: 43,857,321 (GRCm39) R454* probably null Het
Cenpp T C 13: 49,619,233 (GRCm39) E188G probably damaging Het
Cimip3 A G 17: 47,748,114 (GRCm39) probably null Het
Creg2 T C 1: 39,662,376 (GRCm39) E252G probably benign Het
Dot1l A G 10: 80,622,857 (GRCm39) Y636C probably damaging Het
Dpy30 A G 17: 74,614,835 (GRCm39) I36T probably benign Het
Eed A G 7: 89,613,935 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,353 (GRCm39) D351G unknown Het
Fra10ac1 C T 19: 38,212,567 (GRCm39) probably benign Het
Gdpd4 T A 7: 97,623,136 (GRCm39) I249N probably damaging Het
Glb1l2 A T 9: 26,676,423 (GRCm39) V600D probably null Het
Gm13889 A T 2: 93,787,459 (GRCm39) probably benign Het
Gm17654 T A 14: 43,813,327 (GRCm39) N188Y Het
Gm3327 T C 14: 44,363,732 (GRCm39) F112S Het
H2-Ab1 T C 17: 34,482,316 (GRCm39) S11P probably benign Het
Hcn4 T C 9: 58,763,000 (GRCm39) S522P unknown Het
Hfm1 T C 5: 107,043,909 (GRCm39) T576A probably benign Het
Hoxa1 A G 6: 52,135,180 (GRCm39) S8P probably damaging Het
Hoxd13 A G 2: 74,499,369 (GRCm39) Y239C probably damaging Het
Ifih1 T A 2: 62,440,859 (GRCm39) I485L probably benign Het
Ift52 G A 2: 162,871,716 (GRCm39) V183M probably damaging Het
Ikbkb A G 8: 23,161,658 (GRCm39) V410A possibly damaging Het
Il22ra1 G A 4: 135,478,473 (GRCm39) V515I probably benign Het
Klk1b3 A T 7: 43,850,863 (GRCm39) I132F probably damaging Het
Limk2 T C 11: 3,305,448 (GRCm39) T206A possibly damaging Het
Llph A T 10: 120,067,240 (GRCm39) probably benign Het
Lrrc26 T A 2: 25,180,087 (GRCm39) D29E probably benign Het
Ltbp4 A G 7: 27,007,191 (GRCm39) probably null Het
Mageb3 A T 2: 121,784,973 (GRCm39) V243E probably damaging Het
Mfhas1 T C 8: 36,055,792 (GRCm39) V89A probably benign Het
Mycbp2 G A 14: 103,393,534 (GRCm39) T2899I possibly damaging Het
Nckap5 A T 1: 126,186,449 (GRCm39) probably null Het
Ncor1 T C 11: 62,275,619 (GRCm39) D530G probably null Het
Or10ag55-ps1 T A 2: 87,114,775 (GRCm39) M47K probably benign Het
Or56a3b C T 7: 104,771,170 (GRCm39) R169* probably null Het
Pax4 A G 6: 28,446,322 (GRCm39) I57T probably damaging Het
Peg12 T C 7: 62,113,711 (GRCm39) I129V possibly damaging Het
Pex6 G A 17: 47,031,447 (GRCm39) A416T probably benign Het
Pgghg G A 7: 140,524,631 (GRCm39) R326H probably benign Het
Pgk2 T A 17: 40,519,366 (GRCm39) M21L probably benign Het
Polh A T 17: 46,509,642 (GRCm39) W64R probably benign Het
Rassf7 T A 7: 140,797,556 (GRCm39) H256Q probably benign Het
Rc3h2 A G 2: 37,265,258 (GRCm39) M1184T probably benign Het
Ror1 A T 4: 100,299,436 (GRCm39) E936D probably benign Het
Skic3 G A 13: 76,283,079 (GRCm39) A769T probably damaging Het
Slco1b2 A T 6: 141,617,974 (GRCm39) T440S probably damaging Het
Specc1 T A 11: 62,008,604 (GRCm39) V40E probably damaging Het
Tarbp1 T A 8: 127,201,234 (GRCm39) S191C possibly damaging Het
Tpp2 T A 1: 44,022,318 (GRCm39) D905E probably damaging Het
Trav7-5 T C 14: 53,768,756 (GRCm39) L108P probably damaging Het
Ttc9b A G 7: 27,353,667 (GRCm39) T106A probably benign Het
Ttn T C 2: 76,545,012 (GRCm39) S32697G probably damaging Het
Usp17la T G 7: 104,510,514 (GRCm39) L373R probably benign Het
Vmn1r113 A G 7: 20,521,427 (GRCm39) N73S probably benign Het
Vmn1r42 T C 6: 89,822,051 (GRCm39) T173A possibly damaging Het
Vmn2r106 A G 17: 20,499,182 (GRCm39) V243A probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r25 T A 6: 123,800,569 (GRCm39) D591V probably damaging Het
Zc3h13 T C 14: 75,559,227 (GRCm39) S379P probably benign Het
Zfp870 T C 17: 33,102,456 (GRCm39) Y292C probably damaging Het
Zfp977 A T 7: 42,229,786 (GRCm39) N246K possibly damaging Het
Zp1 G A 19: 10,896,104 (GRCm39) T207M probably damaging Het
Other mutations in Timm22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01871:Timm22 APN 11 76,298,263 (GRCm39) missense probably damaging 0.98
obsidian UTSW 11 76,297,945 (GRCm39) missense probably benign 0.00
warsling UTSW 11 76,304,931 (GRCm39) missense probably damaging 1.00
R2851:Timm22 UTSW 11 76,304,925 (GRCm39) missense probably damaging 0.97
R6362:Timm22 UTSW 11 76,301,953 (GRCm39) missense probably damaging 0.98
R6388:Timm22 UTSW 11 76,297,945 (GRCm39) missense probably benign 0.00
R6416:Timm22 UTSW 11 76,301,965 (GRCm39) missense probably damaging 1.00
R6433:Timm22 UTSW 11 76,300,570 (GRCm39) missense possibly damaging 0.82
R6707:Timm22 UTSW 11 76,298,151 (GRCm39) missense possibly damaging 0.81
R7469:Timm22 UTSW 11 76,298,134 (GRCm39) missense probably benign 0.11
R8065:Timm22 UTSW 11 76,304,931 (GRCm39) missense probably damaging 1.00
R9541:Timm22 UTSW 11 76,300,641 (GRCm39) missense possibly damaging 0.70
R9569:Timm22 UTSW 11 76,298,196 (GRCm39) missense probably benign 0.06
Z1186:Timm22 UTSW 11 76,297,943 (GRCm39) missense probably benign 0.00
Z1187:Timm22 UTSW 11 76,297,943 (GRCm39) missense probably benign 0.00
Z1188:Timm22 UTSW 11 76,297,943 (GRCm39) missense probably benign 0.00
Z1189:Timm22 UTSW 11 76,297,943 (GRCm39) missense probably benign 0.00
Z1190:Timm22 UTSW 11 76,297,943 (GRCm39) missense probably benign 0.00
Z1192:Timm22 UTSW 11 76,297,943 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGCAGCTGTTTAAAGAGGC -3'
(R):5'- AGGCGCAACTTTCCATTGC -3'

Sequencing Primer
(F):5'- TTGAGGAAGCACGATAGCTCCC -3'
(R):5'- GCAACTTTCCATTGCCCTCTCG -3'
Posted On 2019-05-13