Incidental Mutation 'IGL03118:Tbpl2'
ID409854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbpl2
Ensembl Gene ENSMUSG00000061809
Gene NameTATA box binding protein like 2
SynonymsLOC227606, Trf3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.372) question?
Stock #IGL03118
Quality Score
Status
Chromosome2
Chromosomal Location24071721-24096595 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24087289 bp
ZygosityHeterozygous
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]
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: 24,400,450 G921S probably benign Het
Abca8b T C 11: 109,947,181 T1082A possibly damaging Het
AF366264 C T 8: 13,838,096 probably benign Het
B9d2 T C 7: 25,681,476 probably null Het
Bfsp1 T C 2: 143,827,333 E442G possibly damaging Het
Bpifb5 C T 2: 154,236,753 probably benign Het
Ccl1 A G 11: 82,178,070 I47T probably damaging Het
Cln3 T C 7: 126,575,397 I285V probably null Het
Cyp4a12b G T 4: 115,432,976 R242I possibly damaging Het
Dcc T C 18: 71,420,273 T771A probably benign Het
Erbb4 T C 1: 68,042,719 D1052G probably benign Het
Fcnb T C 2: 28,076,618 N301S probably benign Het
Gm28043 A C 17: 29,634,731 E403A probably damaging Het
Gria4 A G 9: 4,793,804 probably benign Het
Ighv5-12 T A 12: 113,702,578 M1L probably benign Het
Il17rd A G 14: 27,093,395 probably null Het
Kcnn3 T A 3: 89,667,161 L660Q probably damaging Het
Lcor C T 19: 41,558,369 P131S probably damaging Het
Leng1 T C 7: 3,665,410 N13S probably damaging Het
Loxhd1 T C 18: 77,380,464 V827A probably damaging Het
Mapk13 A G 17: 28,777,735 Y208C probably benign Het
Mybpc3 T C 2: 91,124,503 V453A probably damaging Het
Odam T C 5: 87,885,754 S15P unknown Het
Olfr26 A T 9: 38,855,230 H56L probably damaging Het
Olfr323 A T 11: 58,625,443 V201D probably damaging Het
Pcdhb19 T C 18: 37,499,565 probably benign Het
Per2 G T 1: 91,444,619 Y244* probably null Het
Pik3ca A T 3: 32,459,935 I857F probably damaging Het
Pold1 T A 7: 44,539,400 I447F probably benign Het
Ppm1f T A 16: 16,914,078 W131R probably null Het
Ppp2r2c A G 5: 36,926,316 Y67C probably damaging Het
Psmb10 A T 8: 105,936,900 H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 A149V probably benign Het
Pygb T A 2: 150,820,811 V566E probably benign Het
Rictor G A 15: 6,759,518 R205Q possibly damaging Het
Ryr1 T A 7: 29,015,786 R4638W unknown Het
Sept3 G A 15: 82,284,514 probably null Het
Serpina3b A T 12: 104,131,054 D198V probably benign Het
Slc27a6 C A 18: 58,556,743 H94N probably benign Het
Taf2 C T 15: 55,052,163 V456M probably damaging Het
Ttn C T 2: 76,754,207 V20440I possibly damaging Het
Zfp638 T A 6: 83,935,018 probably benign Het
Zfp865 T C 7: 5,034,645 probably benign Het
Other mutations in Tbpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01540:Tbpl2 APN 2 24094973 missense probably benign 0.08
IGL02273:Tbpl2 APN 2 24096519 missense probably benign 0.00
IGL02887:Tbpl2 APN 2 24093876 missense probably damaging 0.99
IGL02969:Tbpl2 APN 2 24091093 missense probably damaging 1.00
IGL03075:Tbpl2 APN 2 24071985 utr 3 prime probably benign
IGL03107:Tbpl2 APN 2 24093833 missense probably benign 0.01
R0322:Tbpl2 UTSW 2 24094979 missense probably benign 0.00
R1208:Tbpl2 UTSW 2 24094771 missense probably benign 0.02
R1208:Tbpl2 UTSW 2 24094771 missense probably benign 0.02
R1699:Tbpl2 UTSW 2 24095045 missense probably benign 0.00
R1987:Tbpl2 UTSW 2 24094732 missense probably benign
R2040:Tbpl2 UTSW 2 24094859 missense probably benign 0.00
R3500:Tbpl2 UTSW 2 24087139 missense probably benign 0.00
R3819:Tbpl2 UTSW 2 24076012 missense probably damaging 1.00
R3937:Tbpl2 UTSW 2 24087139 missense probably benign 0.00
R4995:Tbpl2 UTSW 2 24093860 missense possibly damaging 0.94
R5033:Tbpl2 UTSW 2 24087158 missense probably benign 0.01
R5606:Tbpl2 UTSW 2 24087233 missense possibly damaging 0.67
R6049:Tbpl2 UTSW 2 24094992 missense possibly damaging 0.75
R6153:Tbpl2 UTSW 2 24076016 missense probably damaging 1.00
R6260:Tbpl2 UTSW 2 24094886 missense possibly damaging 0.94
R6347:Tbpl2 UTSW 2 24094703 missense probably benign 0.35
R6936:Tbpl2 UTSW 2 24094941 missense probably benign 0.00
R7378:Tbpl2 UTSW 2 24094700 missense probably benign 0.14
R7382:Tbpl2 UTSW 2 24087314 splice site probably null
R7958:Tbpl2 UTSW 2 24095067 splice site probably null
Posted On2016-08-02