Incidental Mutation 'R1428:Timm8a1'
ID161423
Institutional Source Beutler Lab
Gene Symbol Timm8a1
Ensembl Gene ENSMUSG00000048007
Gene Nametranslocase of inner mitochondrial membrane 8A1
SynonymsFci-12, DXHXS1274E, Ddp1, Tim8a
MMRRC Submission 039484-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R1428 (G1)
Quality Score110
Status Not validated
ChromosomeX
Chromosomal Location134537256-134541865 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 134538123 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 93 (E93K)
Ref Sequence ENSEMBL: ENSMUSP00000050156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033617] [ENSMUST00000054213] [ENSMUST00000113213]
Predicted Effect probably benign
Transcript: ENSMUST00000033617
SMART Domains Protein: ENSMUSP00000033617
Gene: ENSMUSG00000031264

DomainStartEndE-ValueType
PH 4 135 1.23e-13 SMART
BTK 135 171 1.95e-22 SMART
low complexity region 183 192 N/A INTRINSIC
SH3 217 273 1.95e-19 SMART
SH2 279 368 2.47e-32 SMART
TyrKc 402 651 2.14e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054213
AA Change: E93K

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000050156
Gene: ENSMUSG00000048007
AA Change: E93K

DomainStartEndE-ValueType
low complexity region 3 10 N/A INTRINSIC
Pfam:zf-Tim10_DDP 21 83 4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113213
SMART Domains Protein: ENSMUSP00000108839
Gene: ENSMUSG00000031264

DomainStartEndE-ValueType
PH 4 135 1.23e-13 SMART
BTK 135 171 1.95e-22 SMART
low complexity region 183 192 N/A INTRINSIC
SH3 217 273 1.95e-19 SMART
SH2 279 353 1.02e-15 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.2%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,952,411 I249M possibly damaging Het
2410089E03Rik T A 15: 8,219,369 Y1801N possibly damaging Het
Abl1 G T 2: 31,801,810 A1114S probably damaging Het
Acbd5 T C 2: 23,099,721 V452A probably damaging Het
Armc12 A G 17: 28,537,936 D225G probably damaging Het
Atad3a T A 4: 155,755,682 Q121H probably damaging Het
Bptf T A 11: 107,073,047 I1711F probably damaging Het
C2cd4c A T 10: 79,612,230 I361N probably damaging Het
Canx A G 11: 50,308,394 probably benign Het
Ccdc127 C T 13: 74,356,915 T194I probably benign Het
Cdc42ep3 T C 17: 79,335,036 K152E probably benign Het
Cdh15 G C 8: 122,857,495 E112Q probably damaging Het
Cnbd2 T C 2: 156,339,284 probably null Het
Crybg1 T C 10: 43,975,078 N1599S probably benign Het
Cyc1 T C 15: 76,344,348 V59A probably benign Het
Cyp2j11 T C 4: 96,294,880 K484E probably benign Het
Ddx60 T C 8: 61,958,159 probably benign Het
Epg5 T C 18: 77,962,427 S711P probably damaging Het
Espl1 A T 15: 102,305,685 Q649L probably benign Het
Eya1 G A 1: 14,304,414 probably benign Het
Fam214a A T 9: 75,006,321 T79S probably benign Het
Fam71e2 T A 7: 4,757,688 H675L possibly damaging Het
Fat2 T A 11: 55,296,087 Y1311F probably damaging Het
Gins4 T C 8: 23,227,128 Y208C probably damaging Het
Gsk3b T C 16: 38,090,575 V17A probably benign Het
Gykl1 A T 18: 52,694,761 K347I probably benign Het
Helz T A 11: 107,592,840 probably benign Het
Hivep3 C T 4: 120,096,575 T696I possibly damaging Het
Ifi27l2a G T 12: 103,442,834 probably benign Het
Kif13a A G 13: 46,791,511 probably benign Het
Kpna3 C T 14: 61,383,220 probably benign Het
Mmp15 C G 8: 95,369,562 P327R probably benign Het
Mrc1 A T 2: 14,315,263 T1003S probably benign Het
Mtss1 T C 15: 58,947,390 D393G probably benign Het
Olfm4 T A 14: 80,021,403 Y331N probably damaging Het
Olfr1255 G C 2: 89,816,381 L12F probably damaging Het
Olfr517 T A 7: 108,868,960 N65Y probably damaging Het
P2rx3 G C 2: 85,024,950 T54R possibly damaging Het
Pacsin1 C T 17: 27,705,963 T217I probably damaging Het
Phlpp1 A G 1: 106,380,425 probably null Het
Pknox1 T C 17: 31,592,092 probably benign Het
Plb1 A G 5: 32,264,912 R70G possibly damaging Het
Rab3gap2 G A 1: 185,247,904 A340T probably damaging Het
Rnf103 T A 6: 71,508,999 W205R probably damaging Het
Rps6kc1 G A 1: 190,798,726 T936M probably damaging Het
Spef2 T C 15: 9,596,707 probably benign Het
Sstr4 A G 2: 148,396,359 S297G probably benign Het
Uck1 A C 2: 32,258,355 Y150D probably damaging Het
Yipf4 A G 17: 74,498,305 probably benign Het
Predicted Primers PCR Primer
(F):5'- GGATTGCAGGAACACTCCATAGGAC -3'
(R):5'- TAAGCGAAGGACCCTTGGTGACTC -3'

Sequencing Primer
(F):5'- TCACAGTTAAACAGTGCCAGG -3'
(R):5'- GGACCCTTGGTGACTCTGTTTC -3'
Posted On2014-03-14