Incidental Mutation 'R6416:Timm22'
ID 517949
Institutional Source Beutler Lab
Gene Symbol Timm22
Ensembl Gene ENSMUSG00000020843
Gene Name translocase of inner mitochondrial membrane 22
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R6416 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 76406952-76416292 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76411139 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 150 (S150P)
Ref Sequence ENSEMBL: ENSMUSP00000021203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021203] [ENSMUST00000120699] [ENSMUST00000152183] [ENSMUST00000164102]
AlphaFold Q9CQ85
Predicted Effect probably damaging
Transcript: ENSMUST00000021203
AA Change: S150P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021203
Gene: ENSMUSG00000020843
AA Change: S150P

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Tim17 68 190 1.5e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120699
AA Change: S97P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113238
Gene: ENSMUSG00000020843
AA Change: S97P

DomainStartEndE-ValueType
Pfam:Tim17 12 140 4.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152183
AA Change: V84A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123281
Gene: ENSMUSG00000020843
AA Change: V84A

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164102
SMART Domains Protein: ENSMUSP00000132836
Gene: ENSMUSG00000020843

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.4%
  • 20x: 94.6%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik C A 16: 88,707,891 R6L unknown Het
Anxa11 A G 14: 25,874,270 Q235R possibly damaging Het
Ap2b1 T A 11: 83,308,239 M1K probably null Het
Atl2 G A 17: 79,850,223 T563I probably benign Het
Azin1 A T 15: 38,492,343 S307R possibly damaging Het
Ccdc153 A G 9: 44,245,780 T118A probably benign Het
Chac1 G A 2: 119,353,534 V206I probably damaging Het
Chrm3 A G 13: 9,877,662 V446A probably benign Het
Cped1 T C 6: 22,123,649 F467S probably damaging Het
Csmd3 G A 15: 48,673,560 P82L probably damaging Het
Ddx60 T A 8: 61,977,950 S840T probably benign Het
Ddx60 C T 8: 61,998,681 H1202Y probably benign Het
Dnah8 T A 17: 30,765,635 N3102K probably benign Het
Dst A T 1: 34,116,128 K85M probably damaging Het
Ehbp1l1 T C 19: 5,718,757 I839M probably benign Het
Fam184b T A 5: 45,537,653 M750L probably benign Het
Frem2 T C 3: 53,572,378 T1965A probably benign Het
Ftl1 A T 7: 45,459,210 D41E probably benign Het
Garem2 G A 5: 30,116,737 W698* probably null Het
Glt8d2 T C 10: 82,652,906 Y283C probably damaging Het
Hars T C 18: 36,773,590 E109G possibly damaging Het
Hspb9 T C 11: 100,714,210 S121P probably damaging Het
Hus1b A T 13: 30,947,205 L157Q probably damaging Het
Hykk A G 9: 54,946,359 M322V probably benign Het
Igkv4-61 C A 6: 69,417,154 A31S possibly damaging Het
Il17f T A 1: 20,777,907 M116L probably benign Het
Kif22 T C 7: 127,028,932 K9E possibly damaging Het
Krt90 T C 15: 101,559,244 E233G probably benign Het
Lipg T C 18: 74,957,236 M81V probably benign Het
Mocos C T 18: 24,701,456 S850L probably damaging Het
Mug2 T A 6: 122,082,754 S1364T probably damaging Het
Neb A T 2: 52,185,328 N208K probably benign Het
Oca2 G T 7: 56,328,767 R561L probably benign Het
Olfm5 A G 7: 104,154,053 L401P probably damaging Het
Olfr109 T A 17: 37,467,080 Y291* probably null Het
Olfr1238 C A 2: 89,406,522 A186S possibly damaging Het
Olfr331 T C 11: 58,502,340 D72G probably damaging Het
Olfr828 G A 9: 18,815,892 T134M probably benign Het
Olfr952 T A 9: 39,426,891 Y60F probably damaging Het
Oxgr1 T C 14: 120,022,448 N116D probably damaging Het
Pcdha11 G T 18: 37,012,169 probably null Het
Pi4ka T C 16: 17,358,322 I418V probably benign Het
Pih1d2 T C 9: 50,618,609 V62A probably benign Het
Pkib T A 10: 57,728,138 V46E probably damaging Het
Pum1 A G 4: 130,728,287 probably null Het
Rbak G T 5: 143,176,552 Q19K possibly damaging Het
Sema3c A G 5: 17,576,961 T32A probably damaging Het
Shprh T C 10: 11,167,873 W835R probably damaging Het
Sis T G 3: 72,911,854 K1456N probably damaging Het
Slc4a4 A T 5: 89,179,729 N675I probably benign Het
Slc8a3 C A 12: 81,315,627 M139I probably damaging Het
Sorcs3 T C 19: 48,802,759 F1182S probably damaging Het
St8sia2 A T 7: 73,971,921 I96N probably damaging Het
Stx19 T C 16: 62,822,057 S79P probably damaging Het
Tecta C T 9: 42,375,267 V698M probably damaging Het
Tjp1 C T 7: 65,313,205 D995N possibly damaging Het
Tmem135 T A 7: 89,147,794 T365S probably benign Het
Tmem174 T C 13: 98,636,981 T114A probably benign Het
Tnc A G 4: 64,007,816 I909T probably benign Het
Trcg1 A G 9: 57,241,330 I62V possibly damaging Het
Tulp1 A T 17: 28,356,031 *487K probably null Het
Unc79 T A 12: 103,131,646 V1826E possibly damaging Het
Vmn2r13 A T 5: 109,174,116 N238K probably damaging Het
Vmn2r22 T A 6: 123,637,738 N298Y probably damaging Het
Vmn2r23 T A 6: 123,712,902 F246I probably damaging Het
Vps9d1 A C 8: 123,248,639 V194G probably damaging Het
Zfp260 A T 7: 30,104,810 H45L possibly damaging Het
Zfp846 A T 9: 20,593,720 H292L possibly damaging Het
Other mutations in Timm22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01871:Timm22 APN 11 76407437 missense probably damaging 0.98
obsidian UTSW 11 76407119 missense probably benign 0.00
warsling UTSW 11 76414105 missense probably damaging 1.00
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
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
R9541:Timm22 UTSW 11 76409815 missense possibly damaging 0.70
R9569:Timm22 UTSW 11 76407370 missense not run
Z1186:Timm22 UTSW 11 76407117 missense probably benign 0.00
Z1187:Timm22 UTSW 11 76407117 missense probably benign 0.00
Z1188:Timm22 UTSW 11 76407117 missense probably benign 0.00
Z1189:Timm22 UTSW 11 76407117 missense probably benign 0.00
Z1190:Timm22 UTSW 11 76407117 missense probably benign 0.00
Z1192:Timm22 UTSW 11 76407117 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGACTTGACTTCAGCTCTCTGG -3'
(R):5'- TTCCAGAACCGAGCTTACACAG -3'

Sequencing Primer
(F):5'- GACTTCAGCTCTCTGGTGCCC -3'
(R):5'- CAGAAGCAGCTGGGACTTATTTGTC -3'
Posted On 2018-05-24