Incidental Mutation 'R9759:Timm8a2'
ID 732914
Institutional Source Beutler Lab
Gene Symbol Timm8a2
Ensembl Gene ENSMUSG00000071229
Gene Name translocase of inner mitochondrial membrane 8A2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R9759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 122272086-122275832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122272216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 40 (T40S)
Ref Sequence ENSEMBL: ENSMUSP00000047497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045976]
AlphaFold Q4FZG7
Predicted Effect probably damaging
Transcript: ENSMUST00000045976
AA Change: T40S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047497
Gene: ENSMUSG00000071229
AA Change: T40S

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 21 83 4e-25 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik G T 13: 119,615,989 (GRCm39) W508L probably damaging Het
Abt1 G T 13: 23,606,439 (GRCm39) Q172K probably damaging Het
Aoah C A 13: 21,000,738 (GRCm39) H57Q probably damaging Het
Cpxm2 T C 7: 131,756,242 (GRCm39) E34G probably benign Het
Ddx25 C T 9: 35,457,265 (GRCm39) R350Q probably benign Het
Dnah9 G A 11: 65,965,944 (GRCm39) H1691Y probably null Het
Doc2g A T 19: 4,056,571 (GRCm39) H319L probably benign Het
Enah A C 1: 181,841,911 (GRCm39) V6G unknown Het
Fam135b T G 15: 71,335,689 (GRCm39) T502P probably benign Het
Frem2 A G 3: 53,562,918 (GRCm39) S530P possibly damaging Het
Gm19410 A G 8: 36,252,938 (GRCm39) R628G possibly damaging Het
Hdac7 T C 15: 97,699,989 (GRCm39) T614A probably benign Het
Ift88 T A 14: 57,672,256 (GRCm39) L32* probably null Het
Insm2 C T 12: 55,647,390 (GRCm39) T378M possibly damaging Het
Kctd3 G A 1: 188,710,786 (GRCm39) T459M probably damaging Het
Khsrp A G 17: 57,332,925 (GRCm39) L188P probably benign Het
Kynu A G 2: 43,569,881 (GRCm39) I388V probably benign Het
Met T C 6: 17,555,561 (GRCm39) V1090A probably damaging Het
Mier1 C T 4: 103,019,725 (GRCm39) T483I probably benign Het
Mthfsd A G 8: 121,824,615 (GRCm39) S297P probably benign Het
P2rx5 A T 11: 73,058,341 (GRCm39) I259F probably damaging Het
Pax3 A G 1: 78,170,415 (GRCm39) L138P probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Rbm12 A T 2: 155,938,546 (GRCm39) H575Q probably benign Het
Scube1 C T 15: 83,492,465 (GRCm39) R953H probably benign Het
Sirt1 A G 10: 63,156,516 (GRCm39) S705P probably benign Het
Slc23a3 ATT ATTT 1: 75,109,925 (GRCm39) probably null Het
Slc46a3 T C 5: 147,823,234 (GRCm39) T203A probably benign Het
Snta1 G T 2: 154,222,889 (GRCm39) T278K probably benign Het
Stac3 A G 10: 127,344,083 (GRCm39) D327G possibly damaging Het
Timm44 C A 8: 4,317,707 (GRCm39) E205* probably null Het
Vmn2r116 A G 17: 23,620,360 (GRCm39) N698S possibly damaging Het
Zik1 A C 7: 10,223,716 (GRCm39) C460W possibly damaging Het
Zmynd8 A C 2: 165,680,746 (GRCm39) I229S possibly damaging Het
Other mutations in Timm8a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5169:Timm8a2 UTSW 14 122,272,138 (GRCm39) missense probably benign 0.01
R5753:Timm8a2 UTSW 14 122,272,289 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGCCATGACACTTCCGGTTC -3'
(R):5'- ACCTCCCTTTTCCAAAGCGG -3'

Sequencing Primer
(F):5'- CTCGTTCTCTAGCAGGACG -3'
(R):5'- CTGAGATCAGTCGGAAAGTCTTTC -3'
Posted On 2022-11-14