Incidental Mutation 'IGL02969:Tbpl2'
ID365732
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 essential (E-score: 0.532) question?
Stock #IGL02969
Quality Score
Status
Chromosome2
Chromosomal Location24071721-24096595 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 24091093 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 231 (C231F)
Ref Sequence ENSEMBL: ENSMUSP00000120310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080453] [ENSMUST00000153338]
Predicted Effect probably damaging
Transcript: ENSMUST00000080453
AA Change: C232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079309
Gene: ENSMUSG00000061809
AA Change: C232F

DomainStartEndE-ValueType
Pfam:TBP 173 255 1.2e-33 PFAM
Pfam:TBP 263 347 1.6e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153338
AA Change: C231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120310
Gene: ENSMUSG00000061809
AA Change: C231F

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,220,237 probably benign Het
1700061G19Rik A T 17: 56,883,751 T440S probably damaging Het
Akap12 T A 10: 4,354,864 V558E probably damaging Het
Atg4c T C 4: 99,258,387 probably benign Het
Atg7 T A 6: 114,724,923 N673K possibly damaging Het
BC005561 C T 5: 104,519,343 T577I probably benign Het
Brpf3 A G 17: 28,821,305 D900G probably benign Het
C2cd5 T C 6: 143,079,943 Y176C probably damaging Het
Cep70 A T 9: 99,298,504 I571F possibly damaging Het
Cir1 C T 2: 73,303,776 G150R probably null Het
Cyp46a1 T C 12: 108,343,037 V68A probably damaging Het
Dlgap2 A G 8: 14,831,579 T883A possibly damaging Het
Dnah2 C A 11: 69,521,187 K249N possibly damaging Het
Dnajc11 A G 4: 151,978,046 K434R probably benign Het
Eri3 A G 4: 117,649,311 Y279C probably damaging Het
Gm3259 C T 5: 95,341,399 P234S probably benign Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Ilk A G 7: 105,740,340 K85E possibly damaging Het
Insrr G T 3: 87,814,191 G1135* probably null Het
Itgax T A 7: 128,149,123 M1108K probably benign Het
Mpzl3 C T 9: 45,068,216 T155I probably benign Het
Olfr1308 A T 2: 111,960,567 C169S probably damaging Het
Olfr805 A T 10: 129,723,196 M116K probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2h A G 16: 20,719,057 Y68C probably damaging Het
Rhobtb3 A G 13: 75,943,431 S2P probably damaging Het
Slc24a5 T C 2: 125,083,227 S263P probably damaging Het
Spz1 T G 13: 92,575,343 K208N possibly damaging Het
Tdrd6 T C 17: 43,627,549 I869M probably damaging Het
Tesk1 G A 4: 43,447,027 E472K possibly damaging Het
Tesk1 C A 4: 43,447,026 C471* probably null Het
Tmem213 T A 6: 38,115,666 V111E probably damaging Het
Tmem232 A T 17: 65,256,563 Y612N possibly damaging Het
Ttn T C 2: 76,899,363 probably benign Het
Vmn2r113 G A 17: 22,958,617 V792I probably benign Het
Wdfy1 A G 1: 79,713,871 V273A probably benign Het
Wwp1 A G 4: 19,623,200 S762P probably damaging 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
IGL03075:Tbpl2 APN 2 24071985 utr 3 prime probably benign
IGL03107:Tbpl2 APN 2 24093833 missense probably benign 0.01
IGL03118:Tbpl2 APN 2 24087289 missense probably benign 0.22
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
Posted On2015-12-18