Incidental Mutation 'R5632:Timm10b'
ID 439920
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 043283-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5632 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 105289263-105292844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 105290329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 42 (R42P)
Ref Sequence ENSEMBL: ENSMUSP00000147720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033171] [ENSMUST00000058333] [ENSMUST00000084782] [ENSMUST00000106780] [ENSMUST00000106783] [ENSMUST00000106784] [ENSMUST00000106785] [ENSMUST00000106786] [ENSMUST00000140577] [ENSMUST00000131446] [ENSMUST00000133519] [ENSMUST00000137931] [ENSMUST00000142874] [ENSMUST00000149819] [ENSMUST00000142363] [ENSMUST00000210350] [ENSMUST00000209588] [ENSMUST00000211054] [ENSMUST00000209445] [ENSMUST00000209550] [ENSMUST00000151193] [ENSMUST00000210911] [ENSMUST00000210312] [ENSMUST00000150479] [ENSMUST00000157028]
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: R74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057061
Gene: ENSMUSG00000089847
AA Change: R74P

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: R74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102392
Gene: ENSMUSG00000089847
AA Change: R74P

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 8.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106783
AA Change: R74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102395
Gene: ENSMUSG00000089847
AA Change: R74P

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 8.1e-19 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000106784
AA Change: A61P
Predicted Effect probably damaging
Transcript: ENSMUST00000106785
AA Change: R74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102397
Gene: ENSMUSG00000110234
AA Change: R74P

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 3.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106786
AA Change: R74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102398
Gene: ENSMUSG00000110234
AA Change: R74P

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 noncoding transcript
Transcript: ENSMUST00000140385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134613
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 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 damaging
Transcript: ENSMUST00000142874
AA Change: R74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000149819
AA Change: R42P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000142363
AA Change: R74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210350
AA Change: R74P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect unknown
Transcript: ENSMUST00000210893
AA Change: R34P
Predicted Effect probably damaging
Transcript: ENSMUST00000209588
AA Change: R42P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211054
AA Change: R74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect silent
Transcript: ENSMUST00000209445
Predicted Effect probably benign
Transcript: ENSMUST00000209550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142173
Predicted Effect probably benign
Transcript: ENSMUST00000209870
Predicted Effect probably benign
Transcript: ENSMUST00000151193
Predicted Effect probably benign
Transcript: ENSMUST00000210911
Predicted Effect probably benign
Transcript: ENSMUST00000210312
Predicted Effect probably benign
Transcript: ENSMUST00000150479
Predicted Effect probably benign
Transcript: ENSMUST00000157028
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,664,076 (GRCm39) T7A probably benign Het
Adam33 T G 2: 130,895,362 (GRCm39) D619A probably damaging Het
Ajm1 T C 2: 25,469,276 (GRCm39) T212A probably benign Het
Aldh3b3 C T 19: 4,018,522 (GRCm39) probably benign Het
Arhgef15 G A 11: 68,844,877 (GRCm39) P240L probably benign Het
Arhgef40 C A 14: 52,231,795 (GRCm39) T727K probably damaging Het
Arrdc1 T C 2: 24,817,840 (GRCm39) T43A probably benign Het
Bcl2l15 A G 3: 103,743,378 (GRCm39) N93S probably benign Het
Cd5l G T 3: 87,273,414 (GRCm39) E128* probably null Het
Cep97 T C 16: 55,735,946 (GRCm39) D284G probably benign Het
Ckmt1 T A 2: 121,191,073 (GRCm39) S162T probably damaging Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cpeb4 A G 11: 31,839,877 (GRCm39) D53G probably damaging Het
Crocc2 T A 1: 93,145,575 (GRCm39) S1485R probably damaging Het
Dcaf5 G A 12: 80,444,526 (GRCm39) A189V probably damaging Het
Duox2 C T 2: 122,111,936 (GRCm39) G1355S probably damaging Het
Fam120b C T 17: 15,623,344 (GRCm39) P441S probably benign Het
Fbxo41 A G 6: 85,461,486 (GRCm39) L74P probably damaging Het
H2-DMa A G 17: 34,356,975 (GRCm39) T158A probably benign Het
Hcar2 T A 5: 124,002,532 (GRCm39) T324S probably benign Het
Hif3a T C 7: 16,784,580 (GRCm39) I222V possibly damaging Het
Ighv1-7 A G 12: 114,502,501 (GRCm39) probably benign Het
Il20 T C 1: 130,835,165 (GRCm39) E151G probably benign Het
Jarid2 A G 13: 45,049,766 (GRCm39) E236G probably damaging Het
Knl1 T C 2: 118,900,833 (GRCm39) S845P probably damaging Het
Lamc2 T C 1: 153,007,636 (GRCm39) Y846C probably damaging Het
Lrp5 A G 19: 3,672,512 (GRCm39) V599A probably benign Het
Lrrc8b T A 5: 105,628,163 (GRCm39) S170T possibly damaging Het
Mex3d T C 10: 80,218,428 (GRCm39) K263R probably damaging Het
Mtor A G 4: 148,553,463 (GRCm39) K784E possibly damaging Het
Naip5 C A 13: 100,367,170 (GRCm39) probably null Het
Ncor1 T C 11: 62,229,060 (GRCm39) T609A possibly damaging Het
Ndufs1 C T 1: 63,189,218 (GRCm39) A536T probably benign Het
Neto1 A G 18: 86,516,768 (GRCm39) I362V probably benign Het
Nfatc3 T C 8: 106,805,689 (GRCm39) L178P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nsd3 C T 8: 26,169,985 (GRCm39) T707M probably benign Het
Or51f2 A C 7: 102,527,004 (GRCm39) S226R probably benign Het
Or5w1b A T 2: 87,475,573 (GRCm39) V298E probably damaging Het
Or9g19 T C 2: 85,600,613 (GRCm39) V156A probably benign Het
Pcnx1 T A 12: 81,964,504 (GRCm39) S224T probably damaging Het
Peak1 T C 9: 56,165,058 (GRCm39) T957A probably damaging Het
Pex7 A T 10: 19,764,483 (GRCm39) D153E probably damaging Het
Plscr1 A G 9: 92,148,477 (GRCm39) E139G probably damaging Het
Psmb8 T C 17: 34,420,214 (GRCm39) Y269H probably benign Het
Rmc1 T C 18: 12,304,640 (GRCm39) F72L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sft2d2 T C 1: 165,012,657 (GRCm39) T80A probably damaging Het
Slc12a5 A G 2: 164,829,141 (GRCm39) I583M possibly damaging Het
Slc23a4 T C 6: 34,933,957 (GRCm39) M49V probably benign Het
Smarcb1 G A 10: 75,740,252 (GRCm39) Q309* probably null Het
Sphkap A T 1: 83,256,006 (GRCm39) V294E probably benign Het
Stoml1 C A 9: 58,160,653 (GRCm39) P35Q probably damaging Het
Tnfrsf8 A T 4: 145,019,203 (GRCm39) S211T possibly damaging Het
Ttn T C 2: 76,536,164 (GRCm39) T26738A probably damaging Het
Vps13d A T 4: 144,801,452 (GRCm39) Y474N probably damaging Het
Wdr81 A T 11: 75,336,732 (GRCm39) F1552L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wnt7a A C 6: 91,371,637 (GRCm39) Y108* probably null Het
Zfp512b C T 2: 181,227,461 (GRCm39) R56K 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
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
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
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'- TTGACCTCACTCCTAGGCTG -3'
(R):5'- GGTTTATTGGCTCCAAGAAAAGG -3'

Sequencing Primer
(F):5'- TCACTCCTAGGCTGGGGAC -3'
(R):5'- GGAGCAACAGCACCCAG -3'
Posted On 2016-11-08