Incidental Mutation 'R4839:Timm10b'
ID 371632
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R4839 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 105289263-105292844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105333219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 968 (D968E)
Ref Sequence ENSEMBL: ENSMUSP00000121261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106776] [ENSMUST00000142874] [ENSMUST00000145988]
AlphaFold Q9WV96
Predicted Effect probably damaging
Transcript: ENSMUST00000106776
AA Change: D230E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102388
Gene: ENSMUSG00000030882
AA Change: D230E

DomainStartEndE-ValueType
low complexity region 205 224 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142874
Predicted Effect probably damaging
Transcript: ENSMUST00000145988
AA Change: D968E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121261
Gene: ENSMUSG00000030882
AA Change: D968E

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,845 (GRCm39) S467T probably benign Het
2310030G06Rik A T 9: 50,652,023 (GRCm39) Y68* probably null Het
Abat T G 16: 8,401,512 (GRCm39) probably benign Het
Abca2 C T 2: 25,330,921 (GRCm39) S1203F probably damaging Het
Adam22 G A 5: 8,186,813 (GRCm39) P436L probably damaging Het
Ak3 A C 19: 29,025,132 (GRCm39) L33R probably damaging Het
Arhgap11a A T 2: 113,672,374 (GRCm39) I198K probably damaging Het
Arl14epl A T 18: 47,065,544 (GRCm39) K103M possibly damaging Het
Atg16l1 T A 1: 87,693,896 (GRCm39) N65K probably damaging Het
Btnl2 G A 17: 34,584,260 (GRCm39) W394* probably null Het
Cacna1e C A 1: 154,296,804 (GRCm39) R1687L probably damaging Het
Cacna1g G T 11: 94,350,433 (GRCm39) R471S probably benign Het
Cdh13 A T 8: 119,578,587 (GRCm39) R205* probably null Het
Cdkl3 A T 11: 51,895,861 (GRCm39) Y36F probably damaging Het
Cep290 T A 10: 100,344,648 (GRCm39) N488K probably damaging Het
Cep350 A T 1: 155,804,240 (GRCm39) C948S probably benign Het
Cep70 A G 9: 99,178,138 (GRCm39) K446R probably benign Het
Cfap70 T C 14: 20,475,597 (GRCm39) T375A probably damaging Het
Cfhr1 A G 1: 139,487,871 (GRCm39) L9S probably damaging Het
Chrm4 T A 2: 91,757,952 (GRCm39) M120K probably damaging Het
Col1a1 A G 11: 94,840,921 (GRCm39) probably null Het
Col3a1 T C 1: 45,362,963 (GRCm39) probably null Het
Csrnp3 A T 2: 65,852,375 (GRCm39) R256* probably null Het
Dbf4 T A 5: 8,458,263 (GRCm39) K190* probably null Het
Dnah10 A T 5: 124,850,196 (GRCm39) I1573F probably damaging Het
Dock8 A G 19: 25,146,858 (GRCm39) I1446V probably benign Het
Dst G T 1: 34,229,943 (GRCm39) R2187M probably damaging Het
Ece2 C T 16: 20,449,918 (GRCm39) R257C probably damaging Het
Espn A G 4: 152,222,961 (GRCm39) Y306H probably damaging Het
Fkbpl G A 17: 34,864,839 (GRCm39) M202I probably benign Het
Fn1 A G 1: 71,681,242 (GRCm39) L362P probably damaging Het
Ganc A C 2: 120,290,304 (GRCm39) R880S probably benign Het
Gucy1b2 A T 14: 62,685,695 (GRCm39) L90Q probably damaging Het
Hcn1 T A 13: 118,062,246 (GRCm39) I504N unknown Het
Hdac2 C A 10: 36,873,462 (GRCm39) T352K probably benign Het
Hip1 T C 5: 135,455,172 (GRCm39) probably null Het
Hspa13 G A 16: 75,562,169 (GRCm39) S10L probably damaging Het
Ipo5 T C 14: 121,157,450 (GRCm39) I96T probably benign Het
Isl1 T C 13: 116,438,220 (GRCm39) Y264C probably damaging Het
Izumo1 T C 7: 45,275,657 (GRCm39) I322T probably benign Het
Kars1 A C 8: 112,729,158 (GRCm39) V183G possibly damaging Het
Lrrc15 C A 16: 30,093,086 (GRCm39) M84I probably benign Het
Magi1 A T 6: 93,671,177 (GRCm39) V796E probably damaging Het
Matn4 G T 2: 164,242,896 (GRCm39) D67E probably benign Het
Mertk A G 2: 128,624,496 (GRCm39) M636V probably damaging Het
Mettl27 C A 5: 134,963,266 (GRCm39) P126T probably damaging Het
Mfrp T A 9: 44,013,432 (GRCm39) H52Q possibly damaging Het
Mrgprb8 T G 7: 48,038,656 (GRCm39) I109R probably benign Het
Mroh2a G A 1: 88,165,666 (GRCm39) G512S probably damaging Het
Ncoa7 T A 10: 30,598,655 (GRCm39) R89S possibly damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nin G T 12: 70,137,325 (GRCm39) H84N possibly damaging Het
Nwd2 A T 5: 63,962,893 (GRCm39) I826F possibly damaging Het
Or10d1 A G 9: 39,484,441 (GRCm39) M38T probably benign Het
Or14c43 T C 7: 86,115,117 (GRCm39) F166S probably damaging Het
Or1j11 G A 2: 36,312,012 (GRCm39) V201I probably benign Het
Or4l15 C T 14: 50,197,646 (GRCm39) M294I probably benign Het
Or52a5b T C 7: 103,416,961 (GRCm39) I214M possibly damaging Het
Or5k3 A G 16: 58,969,393 (GRCm39) Y60C probably damaging Het
Or5p73 T C 7: 108,064,938 (GRCm39) S136P probably benign Het
Otof C T 5: 30,576,748 (GRCm39) R168H probably damaging Het
Pcdha6 T C 18: 37,101,485 (GRCm39) V226A possibly damaging Het
Pggt1b T C 18: 46,391,166 (GRCm39) I200V possibly damaging Het
Ppat G A 5: 77,098,811 (GRCm39) Q41* probably null Het
Ppfibp2 A T 7: 107,342,192 (GRCm39) H27L probably damaging Het
Rbm27 T A 18: 42,460,510 (GRCm39) I775N probably damaging Het
Rnf40 C T 7: 127,191,812 (GRCm39) R349* probably null Het
Rtp3 A T 9: 110,818,544 (GRCm39) W46R probably damaging Het
Sass6 C T 3: 116,403,949 (GRCm39) R196W probably damaging Het
Sel1l A T 12: 91,799,932 (GRCm39) D131E probably benign Het
Slain2 T C 5: 73,106,066 (GRCm39) S234P probably damaging Het
Slc47a1 C T 11: 61,264,176 (GRCm39) probably null Het
Sp140 CAGAAGAAG CAGAAG 1: 85,538,529 (GRCm39) probably benign Het
Spata31e2 T C 1: 26,724,440 (GRCm39) T247A probably benign Het
Spef2 A T 15: 9,713,264 (GRCm39) Y369* probably null Het
Spred2 T A 11: 19,948,233 (GRCm39) M76K possibly damaging Het
Svs5 T A 2: 164,078,806 (GRCm39) D367V probably benign Het
Tasor2 G A 13: 3,634,807 (GRCm39) P667S probably damaging Het
Tefm A T 11: 80,027,947 (GRCm39) D270E probably benign Het
Tfcp2l1 C A 1: 118,597,194 (GRCm39) P425H probably benign Het
Thbd A T 2: 148,248,591 (GRCm39) C426S probably damaging Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Tnik T A 3: 28,650,224 (GRCm39) Y446N possibly damaging Het
Tpr T A 1: 150,324,948 (GRCm39) L2400* probably null Het
Trrap T C 5: 144,782,402 (GRCm39) F3328S probably damaging Het
Vldlr G A 19: 27,215,465 (GRCm39) C154Y probably damaging Het
Vmn1r79 T G 7: 11,910,361 (GRCm39) M81R probably benign Het
Vps13d T C 4: 144,812,000 (GRCm39) T3305A possibly damaging Het
Wdr62 T C 7: 29,970,111 (GRCm39) E232G probably damaging Het
Wdr62 T A 7: 29,940,890 (GRCm39) I843F probably benign Het
Zfp747l1 T C 7: 126,984,179 (GRCm39) S308G probably benign Het
Zfp873 T A 10: 81,896,353 (GRCm39) H361Q probably damaging Het
Zfp949 A C 9: 88,452,047 (GRCm39) H539P probably 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
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'- GGACTCATTCAATCTCTCCCGG -3'
(R):5'- AGGCTTGCTGAGGTTGACAG -3'

Sequencing Primer
(F):5'- AACCACATCTCAACTGTCCTCTG -3'
(R):5'- CTTGCTGAGGTTGACAGAAGAC -3'
Posted On 2016-03-01