Incidental Mutation 'R4528:Timm10b'
ID 332996
Institutional Source Beutler Lab
Gene Symbol Timm10b
Ensembl Gene ENSMUSG00000089847
Gene Name translocase of inner mitochondrial membrane 10B
Synonyms Fracture Callus 1, FxC1, Tim9b, Tim10b
MMRRC Submission 041769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R4528 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 105289263-105292844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105332013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 828 (N828S)
Ref Sequence ENSEMBL: ENSMUSP00000121261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106776] [ENSMUST00000142874] [ENSMUST00000145988]
AlphaFold Q9WV96
Predicted Effect probably benign
Transcript: ENSMUST00000106776
AA Change: N90S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102388
Gene: ENSMUSG00000030882
AA Change: N90S

DomainStartEndE-ValueType
low complexity region 205 224 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128388
Predicted Effect probably benign
Transcript: ENSMUST00000142874
Predicted Effect probably benign
Transcript: ENSMUST00000145988
AA Change: N828S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121261
Gene: ENSMUSG00000030882
AA Change: N828S

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
low complexity region 183 191 N/A INTRINSIC
low complexity region 253 269 N/A INTRINSIC
low complexity region 943 962 N/A INTRINSIC
Pfam:DHC_N2 1018 1472 4.6e-50 PFAM
Pfam:AAA_6 1652 1875 2.7e-14 PFAM
low complexity region 1906 1918 N/A INTRINSIC
Blast:AAA 1993 2196 1e-34 BLAST
Pfam:AAA_7 2362 2610 3.3e-11 PFAM
low complexity region 2697 2714 N/A INTRINSIC
low complexity region 2722 2733 N/A INTRINSIC
low complexity region 2800 2810 N/A INTRINSIC
low complexity region 3116 3134 N/A INTRINSIC
Pfam:MT 3178 3470 3.9e-16 PFAM
coiled coil region 3590 3642 N/A INTRINSIC
coiled coil region 3816 3843 N/A INTRINSIC
Pfam:Dynein_heavy 3976 4746 7.3e-97 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm A T 9: 53,412,059 (GRCm39) I999K probably benign Het
Camsap3 A G 8: 3,656,515 (GRCm39) E535G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cenpu G T 8: 47,015,457 (GRCm39) G34* probably null Het
Col7a1 C A 9: 108,788,601 (GRCm39) A739D unknown Het
Coro1b T C 19: 4,199,980 (GRCm39) V107A probably benign Het
Cpeb3 T C 19: 37,116,488 (GRCm39) D381G possibly damaging Het
Cyp2a22 T C 7: 26,634,194 (GRCm39) D320G possibly damaging Het
Dcaf1 A T 9: 106,721,403 (GRCm39) K398N probably damaging Het
Etfa A G 9: 55,407,334 (GRCm39) S52P probably damaging Het
Fat4 T A 3: 38,945,443 (GRCm39) H1445Q probably benign Het
Foxred2 T A 15: 77,827,449 (GRCm39) M637L probably benign Het
Gbe1 A T 16: 70,275,225 (GRCm39) I342L probably benign Het
Gm14410 A T 2: 176,885,736 (GRCm39) I176K probably benign Het
Gm14410 G T 2: 176,885,734 (GRCm39) H177N probably damaging Het
Gm1527 T A 3: 28,968,542 (GRCm39) M198K probably damaging Het
Hr T C 14: 70,803,823 (GRCm39) L838P probably damaging Het
Kmt2e T C 5: 23,678,556 (GRCm39) S212P possibly damaging Het
Lims1 T C 10: 58,245,882 (GRCm39) C180R probably damaging Het
Mki67 A T 7: 135,297,088 (GRCm39) S2649T probably damaging Het
Or10x1 T A 1: 174,196,822 (GRCm39) L113H probably damaging Het
Or4f57 T C 2: 111,791,293 (GRCm39) N42D probably damaging Het
Or51t4 A G 7: 102,598,013 (GRCm39) M104V probably damaging Het
Pde4dip C T 3: 97,624,338 (GRCm39) E1399K probably damaging Het
Pex1 T C 5: 3,681,712 (GRCm39) Y1053H probably damaging Het
Plscr2 G A 9: 92,171,746 (GRCm39) E113K possibly damaging Het
Pus1 T C 5: 110,922,596 (GRCm39) Y309C probably damaging Het
Scube3 T A 17: 28,381,973 (GRCm39) V333D possibly damaging Het
Serpina11 A T 12: 103,952,592 (GRCm39) N66K probably benign Het
Thtpa T A 14: 55,333,039 (GRCm39) D41E probably damaging Het
Tlr12 A C 4: 128,511,818 (GRCm39) L144R probably damaging Het
Uba7 A G 9: 107,861,102 (GRCm39) E964G possibly damaging Het
Ugt1a6b T A 1: 88,035,301 (GRCm39) I213N probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Zbtb43 A G 2: 33,352,337 (GRCm39) probably benign Het
Zfp985 A T 4: 147,667,347 (GRCm39) I72F possibly damaging Het
Zfpm1 G A 8: 123,062,381 (GRCm39) R480H probably benign Het
Other mutations in Timm10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Timm10b APN 7 105,290,345 (GRCm39) nonsense probably null
IGL02642:Timm10b APN 7 105,317,645 (GRCm39) splice site probably benign
IGL02689:Timm10b APN 7 105,289,839 (GRCm39) splice site probably benign
R0413:Timm10b UTSW 7 105,327,537 (GRCm39) missense probably benign 0.11
R0635:Timm10b UTSW 7 105,289,895 (GRCm39) intron probably benign
R1761:Timm10b UTSW 7 105,332,915 (GRCm39) nonsense probably null
R4525:Timm10b UTSW 7 105,332,013 (GRCm39) missense probably benign 0.00
R4527:Timm10b UTSW 7 105,332,013 (GRCm39) missense probably benign 0.00
R4839:Timm10b UTSW 7 105,333,219 (GRCm39) missense probably damaging 1.00
R5007:Timm10b UTSW 7 105,290,298 (GRCm39) missense probably damaging 1.00
R5313:Timm10b UTSW 7 105,290,287 (GRCm39) missense probably damaging 1.00
R5632:Timm10b UTSW 7 105,290,329 (GRCm39) missense probably damaging 1.00
R7153:Timm10b UTSW 7 105,290,087 (GRCm39) missense unknown
R8198:Timm10b UTSW 7 105,327,537 (GRCm39) nonsense probably null
R8305:Timm10b UTSW 7 105,289,876 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GAGGATTTATCACAGTGAGAGCC -3'
(R):5'- AGAAGAGTGTGCTGAGCCTTTG -3'

Sequencing Primer
(F):5'- GATTTATCACAGTGAGAGCCCCCTG -3'
(R):5'- CTTTGTGCAGGCCAGGC -3'
Posted On 2015-08-18