Incidental Mutation 'IGL01871:Timm22'
List |< first << previous [record 36 of 39] next >> last >|
ID178714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timm22
Ensembl Gene ENSMUSG00000020843
Gene Nametranslocase of inner mitochondrial membrane 22
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01871
Quality Score
Status
Chromosome11
Chromosomal Location76406952-76416292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76407437 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 78 (V78A)
Ref Sequence ENSEMBL: ENSMUSP00000021203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021203] [ENSMUST00000120699] [ENSMUST00000152183] [ENSMUST00000164102]
Predicted Effect probably damaging
Transcript: ENSMUST00000021203
AA Change: V78A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021203
Gene: ENSMUSG00000020843
AA Change: V78A

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 probably damaging
Transcript: ENSMUST00000152183
AA Change: V78A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123281
Gene: ENSMUSG00000020843
AA Change: V78A

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164102
AA Change: V78A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132836
Gene: ENSMUSG00000020843
AA Change: V78A

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,472,394 probably null Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Asxl2 G T 12: 3,502,112 V1285L probably benign Het
Bdp1 A T 13: 100,066,053 S688T probably benign Het
Cc2d2a A T 5: 43,688,969 I357F probably damaging Het
Clasp1 A T 1: 118,570,889 I884F probably damaging Het
Cpne4 T G 9: 104,925,757 M200R possibly damaging Het
Cyp2d10 T A 15: 82,403,885 D180V probably damaging Het
Dicer1 A T 12: 104,704,180 V1042D probably damaging Het
Dlc1 G A 8: 36,850,180 T447I probably damaging Het
Efl1 T C 7: 82,763,319 M972T possibly damaging Het
Erbin A G 13: 103,834,766 S781P probably damaging Het
Fam46b A G 4: 133,486,309 I164V possibly damaging Het
Galnt4 G A 10: 99,109,241 G276D probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gmppa A G 1: 75,437,017 I41V probably damaging Het
Golga1 C T 2: 39,050,198 probably benign Het
H2-Ob G T 17: 34,242,545 W86L probably damaging Het
Hnrnpr G A 4: 136,339,574 R482H unknown Het
L2hgdh T C 12: 69,722,095 E81G probably damaging Het
Mre11a T C 9: 14,811,897 V389A possibly damaging Het
Mxra8 A G 4: 155,842,801 T372A probably benign Het
Ncapg T A 5: 45,688,581 S593R probably benign Het
Ndufaf1 C T 2: 119,658,287 W250* probably null Het
Neb T C 2: 52,153,069 E6783G probably damaging Het
Nmt2 T C 2: 3,312,674 Y175H probably damaging Het
Olfml2b T C 1: 170,662,355 probably benign Het
Pitpnm3 T A 11: 72,056,138 M812L probably damaging Het
Pou2f3 A G 9: 43,134,473 probably benign Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Rapgef4 A G 2: 72,198,360 T392A possibly damaging Het
Rhov G T 2: 119,270,738 Q71K probably benign Het
Slc22a15 T C 3: 101,860,794 probably benign Het
Spaca1 T A 4: 34,040,894 N22Y probably damaging Het
Stmnd1 A G 13: 46,289,713 E107G probably damaging Het
Usp47 T C 7: 112,077,786 probably benign Het
Utp4 A C 8: 106,912,317 K419T probably benign Het
Zfp410 T C 12: 84,325,791 probably null Het
Other mutations in Timm22
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2851:Timm22 UTSW 11 76414099 missense probably damaging 0.97
R6362:Timm22 UTSW 11 76411127 missense probably damaging 0.98
R6388:Timm22 UTSW 11 76407119 missense probably benign 0.00
R6416:Timm22 UTSW 11 76411139 missense probably damaging 1.00
R6433:Timm22 UTSW 11 76409744 missense possibly damaging 0.82
R6707:Timm22 UTSW 11 76407325 missense possibly damaging 0.81
R7054:Timm22 UTSW 11 76407245 missense possibly damaging 0.82
R7469:Timm22 UTSW 11 76407308 missense probably benign 0.11
R8065:Timm22 UTSW 11 76414105 missense probably damaging 1.00
Posted On2014-05-07