Incidental Mutation 'IGL02795:Tfb2m'
ID359945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfb2m
Ensembl Gene ENSMUSG00000026492
Gene Nametranscription factor B2, mitochondrial
SynonymsHkp1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock #IGL02795
Quality Score
Status
Chromosome1
Chromosomal Location179528055-179546267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 179545959 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 58 (E58G)
Ref Sequence ENSEMBL: ENSMUSP00000027769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027769] [ENSMUST00000040706]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027769
AA Change: E58G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027769
Gene: ENSMUSG00000026492
AA Change: E58G

DomainStartEndE-ValueType
Pfam:RrnaAD 79 377 6.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040706
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949

DomainStartEndE-ValueType
low complexity region 109 126 N/A INTRINSIC
low complexity region 142 150 N/A INTRINSIC
low complexity region 555 566 N/A INTRINSIC
Pfam:Consortin_C 598 709 3.4e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153962
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,288,748 L1391P probably damaging Het
Abcc3 G A 11: 94,361,642 probably benign Het
Acvr1 A G 2: 58,462,952 I332T probably damaging Het
Atp8a2 C T 14: 60,033,742 V247M probably damaging Het
Btn1a1 T C 13: 23,460,616 probably null Het
Btnl9 A T 11: 49,174,867 probably benign Het
Dbx1 T A 7: 49,636,577 I47F probably benign Het
Dnaja3 A G 16: 4,690,073 probably benign Het
Dnmt1 T C 9: 20,927,111 S220G probably benign Het
Dock9 A T 14: 121,639,978 M451K probably benign Het
Eml3 A G 19: 8,933,778 Y257C probably benign Het
Fbxw19 C A 9: 109,495,818 M10I possibly damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Galnt5 C A 2: 58,027,871 P707H probably damaging Het
Gba2 G T 4: 43,578,331 P6Q probably damaging Het
Gm13199 A G 2: 5,862,673 probably benign Het
Gpr45 C T 1: 43,032,493 R99C possibly damaging Het
Hecw1 G A 13: 14,322,517 S302L probably damaging Het
Hrg T C 16: 22,957,553 probably benign Het
Kdelc2 A G 9: 53,392,105 D99G probably damaging Het
Lama1 A G 17: 67,738,894 probably null Het
Lgr4 T C 2: 110,008,210 probably benign Het
Lrrc9 C T 12: 72,478,768 T830M probably damaging Het
Mdga2 T C 12: 66,689,432 T341A probably benign Het
Mms19 C T 19: 41,952,406 probably null Het
Nectin1 A G 9: 43,803,552 S362G probably benign Het
Nlrc3 G T 16: 3,965,285 H87N probably damaging Het
Oit1 T A 14: 8,355,497 M113L probably benign Het
Olfr1018 T A 2: 85,823,512 C180* probably null Het
Olfr142 A G 2: 90,252,562 L142P probably damaging Het
Olfr183 G T 16: 59,000,277 L197F possibly damaging Het
Olfr23 G A 11: 73,940,929 V228I probably benign Het
Olfr243 T A 7: 103,716,883 F96L probably benign Het
Pcsk1 G T 13: 75,112,620 G321C probably damaging Het
Prrc2c G T 1: 162,714,299 P374T probably benign Het
Rusc1 A T 3: 89,091,950 L175Q probably damaging Het
Ryr2 T C 13: 11,595,190 N4250S probably benign Het
Scara5 A C 14: 65,730,680 N134T possibly damaging Het
Sema4d T C 13: 51,703,411 K595R probably benign Het
Serpinb6a A C 13: 33,931,593 L15R probably damaging Het
Setdb1 A T 3: 95,327,373 N1006K probably damaging Het
Slc18a2 G A 19: 59,274,490 probably benign Het
Slc22a30 C T 19: 8,400,895 C139Y probably damaging Het
Slc25a27 T A 17: 43,647,112 Y269F probably damaging Het
Slc9c1 A T 16: 45,575,419 D611V probably benign Het
Spag6 G T 2: 18,733,083 V255F probably benign Het
St5 T C 7: 109,556,364 Y393C probably damaging Het
Svep1 C A 4: 58,123,223 G698W probably damaging Het
Syne2 T C 12: 75,966,549 L2839P probably damaging Het
Trim24 A T 6: 37,919,389 E260D probably damaging Het
Ugt2b1 T A 5: 86,917,701 D493V probably damaging Het
Vmn1r27 A G 6: 58,215,302 V189A possibly damaging Het
Vmn2r91 A G 17: 18,085,277 Q74R probably benign Het
Vps25 A G 11: 101,256,090 Y64C probably damaging Het
Xirp2 G A 2: 67,509,136 G574S probably damaging Het
Ythdc2 A G 18: 44,837,438 E273G possibly damaging Het
Other mutations in Tfb2m
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Tfb2m APN 1 179542313 missense probably damaging 1.00
IGL01415:Tfb2m APN 1 179532130 splice site probably benign
IGL01538:Tfb2m APN 1 179537844 missense possibly damaging 0.87
IGL01939:Tfb2m APN 1 179537697 critical splice donor site probably null
IGL02434:Tfb2m APN 1 179532135 splice site probably benign
R0267:Tfb2m UTSW 1 179533638 missense probably benign 0.10
R0504:Tfb2m UTSW 1 179545831 missense probably damaging 1.00
R0514:Tfb2m UTSW 1 179531304 missense probably benign 0.05
R0518:Tfb2m UTSW 1 179537824 missense possibly damaging 0.47
R0762:Tfb2m UTSW 1 179545833 missense probably damaging 1.00
R1542:Tfb2m UTSW 1 179537861 splice site probably null
R1697:Tfb2m UTSW 1 179544899 missense probably null 1.00
R2421:Tfb2m UTSW 1 179533666 missense possibly damaging 0.56
R5384:Tfb2m UTSW 1 179545872 unclassified probably null
R5583:Tfb2m UTSW 1 179545881 missense probably benign 0.16
R6522:Tfb2m UTSW 1 179546046 missense probably benign 0.45
R7425:Tfb2m UTSW 1 179537704 missense probably benign 0.08
R7480:Tfb2m UTSW 1 179529182 missense probably benign
R7846:Tfb2m UTSW 1 179531361 missense probably damaging 1.00
R7929:Tfb2m UTSW 1 179531361 missense probably damaging 1.00
Posted On2015-12-18