Incidental Mutation 'R5007:Timm10b'
ID 390211
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 042598-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5007 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 105289263-105292844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105290298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 64 (Y64N)
Ref Sequence ENSEMBL: ENSMUSP00000148176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033171] [ENSMUST00000058333] [ENSMUST00000084782] [ENSMUST00000106780] [ENSMUST00000106783] [ENSMUST00000106785] [ENSMUST00000106786] [ENSMUST00000140577] [ENSMUST00000106784] [ENSMUST00000137931] [ENSMUST00000131446] [ENSMUST00000133519] [ENSMUST00000142363] [ENSMUST00000149819] [ENSMUST00000151193] [ENSMUST00000142874] [ENSMUST00000211054] [ENSMUST00000209588] [ENSMUST00000210350] [ENSMUST00000210312] [ENSMUST00000209445] [ENSMUST00000209550] [ENSMUST00000210911] [ENSMUST00000157028] [ENSMUST00000150479]
AlphaFold Q9WV96
Predicted Effect probably benign
Transcript: ENSMUST00000033171
SMART Domains Protein: ENSMUSP00000033171
Gene: ENSMUSG00000030881

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058333
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057061
Gene: ENSMUSG00000089847
AA Change: Y64N

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 8.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082963
Predicted Effect probably benign
Transcript: ENSMUST00000084782
SMART Domains Protein: ENSMUSP00000081840
Gene: ENSMUSG00000030881

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
Arfaptin 89 316 1.72e-123 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106780
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102392
Gene: ENSMUSG00000089847
AA Change: Y64N

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 8.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106783
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102395
Gene: ENSMUSG00000089847
AA Change: Y64N

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 8.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140385
Predicted Effect probably damaging
Transcript: ENSMUST00000106785
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102397
Gene: ENSMUSG00000110234
AA Change: Y64N

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 3.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106786
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102398
Gene: ENSMUSG00000110234
AA Change: Y64N

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 3 66 3.6e-18 PFAM
low complexity region 89 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140577
Predicted Effect silent
Transcript: ENSMUST00000106784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127759
Predicted Effect probably benign
Transcript: ENSMUST00000137931
SMART Domains Protein: ENSMUSP00000118616
Gene: ENSMUSG00000030881

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
Pfam:Arfaptin 89 153 1.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131446
SMART Domains Protein: ENSMUSP00000120387
Gene: ENSMUSG00000030881

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
Arfaptin 89 316 1.72e-123 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133519
SMART Domains Protein: ENSMUSP00000121649
Gene: ENSMUSG00000030881

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
Arfaptin 89 209 5.49e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000142363
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000149819
AA Change: Y32N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000151193
Predicted Effect probably damaging
Transcript: ENSMUST00000142874
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211054
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000210893
AA Change: Y24N
Predicted Effect probably damaging
Transcript: ENSMUST00000209588
AA Change: Y32N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210350
AA Change: Y64N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210312
Predicted Effect probably benign
Transcript: ENSMUST00000209445
Predicted Effect probably benign
Transcript: ENSMUST00000209550
Predicted Effect probably benign
Transcript: ENSMUST00000209870
Predicted Effect probably benign
Transcript: ENSMUST00000210911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142173
Predicted Effect probably benign
Transcript: ENSMUST00000157028
Predicted Effect probably benign
Transcript: ENSMUST00000150479
Meta Mutation Damage Score 0.8576 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.6%
Validation Efficiency 99% (89/90)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
Abca8b T C 11: 109,827,590 (GRCm39) T1473A probably damaging Het
Adam22 T C 5: 8,217,393 (GRCm39) Y134C probably damaging Het
Alg9 T A 9: 50,699,524 (GRCm39) M183K probably damaging Het
Ambra1 T C 2: 91,602,655 (GRCm39) I213T possibly damaging Het
Ankrd55 T A 13: 112,504,466 (GRCm39) V376D probably benign Het
Ano4 A C 10: 88,948,807 (GRCm39) V166G probably benign Het
Aox3 T A 1: 58,202,583 (GRCm39) C730S probably benign Het
Apc T A 18: 34,446,016 (GRCm39) Y953N probably damaging Het
Ass1 T C 2: 31,391,544 (GRCm39) F273S possibly damaging Het
Atg2b T C 12: 105,610,135 (GRCm39) probably null Het
B3gnt9 A G 8: 105,981,122 (GRCm39) Y89H probably damaging Het
Cd38 T G 5: 44,063,506 (GRCm39) F200V probably damaging Het
Cep170 G T 1: 176,597,380 (GRCm39) R388S probably benign Het
Col22a1 A T 15: 71,816,271 (GRCm39) D614E probably damaging Het
Crybg3 C A 16: 59,378,463 (GRCm39) probably benign Het
Ctdp1 A T 18: 80,463,695 (GRCm39) S114T probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dmtf1 T C 5: 9,172,439 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,362,283 (GRCm39) V3715M probably damaging Het
Dok1 A T 6: 83,009,297 (GRCm39) L185H probably damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Eif2ak1 G T 5: 143,810,698 (GRCm39) R136L probably benign Het
Eml5 A T 12: 98,797,224 (GRCm39) S1063T probably damaging Het
Fam171b T A 2: 83,685,853 (GRCm39) L179* probably null Het
Flot1 G T 17: 36,135,267 (GRCm39) probably benign Het
Fmn2 A T 1: 174,571,866 (GRCm39) H1491L probably damaging Het
Frem1 C T 4: 82,859,049 (GRCm39) probably benign Het
Gdf2 A G 14: 33,666,863 (GRCm39) D195G probably benign Het
Golga4 T G 9: 118,387,368 (GRCm39) C1497G probably benign Het
Gpaa1 T A 15: 76,215,868 (GRCm39) C33* probably null Het
Hectd1 A T 12: 51,849,443 (GRCm39) C254S possibly damaging Het
Hspa1b C T 17: 35,177,086 (GRCm39) A300T probably benign Het
Igf2bp2 A G 16: 21,898,246 (GRCm39) I233T probably damaging Het
Iqce C A 5: 140,661,003 (GRCm39) A491S possibly damaging Het
Irak3 A G 10: 119,982,334 (GRCm39) probably null Het
Kcnip1 T A 11: 33,592,495 (GRCm39) H124L probably benign Het
Klhdc10 G A 6: 30,450,640 (GRCm39) R393Q probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Map2 T C 1: 66,452,448 (GRCm39) V288A possibly damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Meltf A G 16: 31,706,380 (GRCm39) D288G possibly damaging Het
Mgat4e T A 1: 134,468,890 (GRCm39) I385F probably benign Het
Mical3 A C 6: 121,015,030 (GRCm39) V211G probably damaging Het
Mlh1 A G 9: 111,100,478 (GRCm39) *39R probably null Het
Mre11a A G 9: 14,721,116 (GRCm39) D345G probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Nat1 T G 8: 67,944,077 (GRCm39) L154R probably benign Het
Nlrp4a A G 7: 26,161,905 (GRCm39) D851G probably damaging Het
Npas4 A C 19: 5,039,684 (GRCm39) V54G possibly damaging Het
Or13n4 T C 7: 106,423,364 (GRCm39) Y123C probably damaging Het
Pcbp4 G A 9: 106,339,292 (GRCm39) G100R probably damaging Het
Pcdh17 A G 14: 84,770,737 (GRCm39) T1072A probably benign Het
Pcdh18 T C 3: 49,708,906 (GRCm39) N803S probably benign Het
Ppat C T 5: 77,076,525 (GRCm39) probably benign Het
Ppm1l T A 3: 69,224,931 (GRCm39) L11Q probably damaging Het
Pram1 T A 17: 33,864,411 (GRCm39) V658E probably damaging Het
Prr12 C T 7: 44,699,225 (GRCm39) probably benign Het
Prxl2b A G 4: 154,981,531 (GRCm39) probably null Het
Ptprq A G 10: 107,444,137 (GRCm39) V1489A probably benign Het
Ryr1 T A 7: 28,768,540 (GRCm39) I2817F probably damaging Het
Sall2 A G 14: 52,551,950 (GRCm39) L413P probably damaging Het
Slc7a9 T A 7: 35,153,554 (GRCm39) M185K probably benign Het
Stag2 C T X: 41,355,130 (GRCm39) H1149Y possibly damaging Het
Tmem30c T C 16: 57,086,868 (GRCm39) T312A probably benign Het
Tmem9b G T 7: 109,344,550 (GRCm39) C17* probably null Het
Vmn2r68 C A 7: 84,881,622 (GRCm39) R486L probably benign Het
Xkr9 T A 1: 13,771,387 (GRCm39) I301N probably damaging Het
Xpo7 T C 14: 70,925,704 (GRCm39) Q446R probably damaging Het
Ythdf3 T C 3: 16,259,362 (GRCm39) V503A possibly damaging Het
Zfp280b T A 10: 75,875,048 (GRCm39) V309D probably damaging Het
Zfp53 T A 17: 21,729,772 (GRCm39) C602S probably benign Het
Zfp616 A T 11: 73,974,643 (GRCm39) N395I possibly damaging Het
Zfp644 T C 5: 106,783,867 (GRCm39) I862M probably benign Het
Zfp715 T C 7: 42,949,019 (GRCm39) T314A possibly damaging 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
R4528: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
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'- CCAGAGTTGACAACGTGACG -3'
(R):5'- GTACACATTTAGATAAGCCCAAGG -3'

Sequencing Primer
(F):5'- GTTGACAACGTGACGTGACACC -3'
(R):5'- TTAGATAAGCCCAAGGTCCATAG -3'
Posted On 2016-06-06