Incidental Mutation 'IGL03118:Tbpl2'
ID 409854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbpl2
Ensembl Gene ENSMUSG00000061809
Gene Name TATA box binding protein like 2
Synonyms Trf3, LOC227606
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.380) question?
Stock # IGL03118
Quality Score
Status
Chromosome 2
Chromosomal Location 23961733-23986607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23977301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 238 (E238G)
Ref Sequence ENSEMBL: ENSMUSP00000120310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080453] [ENSMUST00000153338]
AlphaFold Q6SJ95
Predicted Effect probably benign
Transcript: ENSMUST00000080453
AA Change: E239G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079309
Gene: ENSMUSG00000061809
AA Change: E239G

DomainStartEndE-ValueType
Pfam:TBP 173 255 1.2e-33 PFAM
Pfam:TBP 263 347 1.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153338
AA Change: E238G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120310
Gene: ENSMUSG00000061809
AA Change: E238G

DomainStartEndE-ValueType
Pfam:TBP 171 255 3.1e-34 PFAM
Pfam:TBP 260 346 8.3e-36 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Female mice homozygous for a knock-out allele exhibit infertility due to impaired folliculogenesis before or during secondary follicle development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,619,424 (GRCm39) G921S probably benign Het
Abca8b T C 11: 109,838,007 (GRCm39) T1082A possibly damaging Het
B9d2 T C 7: 25,380,901 (GRCm39) probably null Het
Bfsp1 T C 2: 143,669,253 (GRCm39) E442G possibly damaging Het
Bpifb5 C T 2: 154,078,673 (GRCm39) probably benign Het
Ccl1 A G 11: 82,068,896 (GRCm39) I47T probably damaging Het
Cln3 T C 7: 126,174,569 (GRCm39) I285V probably null Het
Cyp4a12b G T 4: 115,290,173 (GRCm39) R242I possibly damaging Het
Dcc T C 18: 71,553,344 (GRCm39) T771A probably benign Het
Erbb4 T C 1: 68,081,878 (GRCm39) D1052G probably benign Het
Fcnb T C 2: 27,966,630 (GRCm39) N301S probably benign Het
Gm28043 A C 17: 29,853,705 (GRCm39) E403A probably damaging Het
Gria4 A G 9: 4,793,804 (GRCm39) probably benign Het
Ighv5-12 T A 12: 113,666,198 (GRCm39) M1L probably benign Het
Il17rd A G 14: 26,815,352 (GRCm39) probably null Het
Kcnn3 T A 3: 89,574,468 (GRCm39) L660Q probably damaging Het
Lcor C T 19: 41,546,808 (GRCm39) P131S probably damaging Het
Leng1 T C 7: 3,668,409 (GRCm39) N13S probably damaging Het
Loxhd1 T C 18: 77,468,160 (GRCm39) V827A probably damaging Het
Mapk13 A G 17: 28,996,709 (GRCm39) Y208C probably benign Het
Mybpc3 T C 2: 90,954,848 (GRCm39) V453A probably damaging Het
Odam T C 5: 88,033,613 (GRCm39) S15P unknown Het
Or11l3 A T 11: 58,516,269 (GRCm39) V201D probably damaging Het
Or8d1 A T 9: 38,766,526 (GRCm39) H56L probably damaging Het
Pcdhb19 T C 18: 37,632,618 (GRCm39) probably benign Het
Per2 G T 1: 91,372,341 (GRCm39) Y244* probably null Het
Pik3ca A T 3: 32,514,084 (GRCm39) I857F probably damaging Het
Pold1 T A 7: 44,188,824 (GRCm39) I447F probably benign Het
Ppm1f T A 16: 16,731,942 (GRCm39) W131R probably null Het
Ppp2r2c A G 5: 37,083,660 (GRCm39) Y67C probably damaging Het
Psmb10 A T 8: 106,663,532 (GRCm39) H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 (GRCm39) A149V probably benign Het
Pygb T A 2: 150,662,731 (GRCm39) V566E probably benign Het
Rictor G A 15: 6,788,999 (GRCm39) R205Q possibly damaging Het
Ryr1 T A 7: 28,715,211 (GRCm39) R4638W unknown Het
Semp2l2a C T 8: 13,888,096 (GRCm39) probably benign Het
Septin3 G A 15: 82,168,715 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,313 (GRCm39) D198V probably benign Het
Slc27a6 C A 18: 58,689,815 (GRCm39) H94N probably benign Het
Taf2 C T 15: 54,915,559 (GRCm39) V456M probably damaging Het
Ttn C T 2: 76,584,551 (GRCm39) V20440I possibly damaging Het
Zfp638 T A 6: 83,912,000 (GRCm39) probably benign Het
Zfp865 T C 7: 5,037,644 (GRCm39) probably benign Het
Other mutations in Tbpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01540:Tbpl2 APN 2 23,984,985 (GRCm39) missense probably benign 0.08
IGL02273:Tbpl2 APN 2 23,986,531 (GRCm39) missense probably benign 0.00
IGL02887:Tbpl2 APN 2 23,983,888 (GRCm39) missense probably damaging 0.99
IGL02969:Tbpl2 APN 2 23,981,105 (GRCm39) missense probably damaging 1.00
IGL03075:Tbpl2 APN 2 23,961,997 (GRCm39) utr 3 prime probably benign
IGL03107:Tbpl2 APN 2 23,983,845 (GRCm39) missense probably benign 0.01
R0322:Tbpl2 UTSW 2 23,984,991 (GRCm39) missense probably benign 0.00
R1208:Tbpl2 UTSW 2 23,984,783 (GRCm39) missense probably benign 0.02
R1208:Tbpl2 UTSW 2 23,984,783 (GRCm39) missense probably benign 0.02
R1699:Tbpl2 UTSW 2 23,985,057 (GRCm39) missense probably benign 0.00
R1987:Tbpl2 UTSW 2 23,984,744 (GRCm39) missense probably benign
R2040:Tbpl2 UTSW 2 23,984,871 (GRCm39) missense probably benign 0.00
R3500:Tbpl2 UTSW 2 23,977,151 (GRCm39) missense probably benign 0.00
R3819:Tbpl2 UTSW 2 23,966,024 (GRCm39) missense probably damaging 1.00
R3937:Tbpl2 UTSW 2 23,977,151 (GRCm39) missense probably benign 0.00
R4995:Tbpl2 UTSW 2 23,983,872 (GRCm39) missense possibly damaging 0.94
R5033:Tbpl2 UTSW 2 23,977,170 (GRCm39) missense probably benign 0.01
R5606:Tbpl2 UTSW 2 23,977,245 (GRCm39) missense possibly damaging 0.67
R6049:Tbpl2 UTSW 2 23,985,004 (GRCm39) missense possibly damaging 0.75
R6153:Tbpl2 UTSW 2 23,966,028 (GRCm39) missense probably damaging 1.00
R6260:Tbpl2 UTSW 2 23,984,898 (GRCm39) missense possibly damaging 0.94
R6347:Tbpl2 UTSW 2 23,984,715 (GRCm39) missense probably benign 0.35
R6936:Tbpl2 UTSW 2 23,984,953 (GRCm39) missense probably benign 0.00
R7378:Tbpl2 UTSW 2 23,984,712 (GRCm39) missense probably benign 0.14
R7382:Tbpl2 UTSW 2 23,977,326 (GRCm39) splice site probably null
R7958:Tbpl2 UTSW 2 23,985,079 (GRCm39) splice site probably null
R9189:Tbpl2 UTSW 2 23,966,030 (GRCm39) missense probably damaging 1.00
R9397:Tbpl2 UTSW 2 23,966,070 (GRCm39) missense possibly damaging 0.81
R9474:Tbpl2 UTSW 2 23,984,650 (GRCm39) missense probably benign 0.02
R9491:Tbpl2 UTSW 2 23,986,532 (GRCm39) missense probably benign
R9525:Tbpl2 UTSW 2 23,986,547 (GRCm39) start codon destroyed probably benign
R9597:Tbpl2 UTSW 2 23,977,296 (GRCm39) missense probably damaging 1.00
R9609:Tbpl2 UTSW 2 23,977,197 (GRCm39) missense probably damaging 0.99
R9747:Tbpl2 UTSW 2 23,981,104 (GRCm39) nonsense probably null
Posted On 2016-08-02