Incidental Mutation 'IGL03107:Tbpl2'
ID419000
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: 0.381) question?
Stock #IGL03107
Quality Score
Status
Chromosome2
Chromosomal Location24071721-24096595 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24093833 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 197 (N197K)
Ref Sequence ENSEMBL: ENSMUSP00000079309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080453] [ENSMUST00000153338]
Predicted Effect probably benign
Transcript: ENSMUST00000080453
AA Change: N197K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000079309
Gene: ENSMUSG00000061809
AA Change: N197K

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: N196K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000120310
Gene: ENSMUSG00000061809
AA Change: N196K

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik T A 11: 29,824,360 I366F probably damaging Het
A930003A15Rik T C 16: 19,883,768 noncoding transcript Het
Angpt4 A G 2: 151,943,422 M453V probably benign Het
Atr T A 9: 95,897,730 D1380E probably benign Het
Carmil1 A T 13: 24,094,455 M177K probably damaging Het
Cenpk T A 13: 104,242,772 I203N probably damaging Het
Cerk A T 15: 86,142,813 N165K probably benign Het
Col27a1 G A 4: 63,324,632 probably benign Het
Crb2 A T 2: 37,791,416 D757V probably benign Het
Csnk1a1 A G 18: 61,568,305 D91G probably damaging Het
Dnajc6 G T 4: 101,616,860 W486L probably damaging Het
Elmod1 C T 9: 53,934,223 probably benign Het
Ercc3 G T 18: 32,248,307 R392L possibly damaging Het
Fam135b C T 15: 71,463,561 V595I probably benign Het
Fermt1 A T 2: 132,933,139 S256T probably damaging Het
Fstl5 G T 3: 76,536,311 C321F probably damaging Het
Gpatch1 T G 7: 35,303,317 N256T probably benign Het
Gpd2 T A 2: 57,355,569 S425R probably damaging Het
Igkv4-57-1 T G 6: 69,544,590 M43L probably benign Het
Itgae A G 11: 73,113,601 Q238R probably damaging Het
Lats1 T A 10: 7,712,746 D1042E probably benign Het
Lcn8 G A 2: 25,655,365 G156D probably damaging Het
Loxl4 A C 19: 42,605,279 V224G probably benign Het
Lrp2 T A 2: 69,454,833 D3827V probably damaging Het
Neb C A 2: 52,183,825 R231S probably benign Het
Olfr123 G A 17: 37,795,788 V115I probably benign Het
Olfr1458 A T 19: 13,103,037 M89K probably benign Het
Olfr213 T G 6: 116,540,939 M162R possibly damaging Het
Olfr801 A G 10: 129,669,940 M193T probably benign Het
Olfr969 T G 9: 39,796,179 M268R probably benign Het
Pappa T G 4: 65,204,703 S758R probably damaging Het
Pced1a G A 2: 130,422,835 T61I possibly damaging Het
Pik3cg T C 12: 32,200,595 D731G probably damaging Het
Plxnb1 G A 9: 109,104,986 D761N probably benign Het
Pmp22 T C 11: 63,158,309 V126A probably benign Het
Ppp6r2 G T 15: 89,268,545 R296S probably damaging Het
Prkcq A C 2: 11,260,786 H438P probably damaging Het
Ryr1 T A 7: 29,075,199 Y2339F probably damaging Het
Scaper T C 9: 55,858,402 probably benign Het
Scp2 T A 4: 108,098,115 I144F probably benign Het
Secisbp2 T C 13: 51,652,757 probably null Het
Sema5a T A 15: 32,669,408 Y693N probably damaging Het
Sin3b T A 8: 72,753,585 I905K probably damaging Het
Slc13a3 T A 2: 165,437,307 M195L probably benign Het
Strada A G 11: 106,164,037 probably benign Het
Stx18 G A 5: 38,136,311 V294M probably damaging Het
Tdrd9 A T 12: 112,042,840 H1060L probably damaging Het
Tm4sf5 G A 11: 70,505,397 V23M possibly damaging Het
Tmem54 C A 4: 129,110,912 L187I probably damaging Het
Tmprss5 A G 9: 49,113,228 H281R possibly damaging Het
Trim30c A G 7: 104,382,613 Y332H possibly damaging Het
Uba6 T A 5: 86,127,774 probably benign Het
Unc80 C A 1: 66,631,454 P1912Q 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
IGL02969:Tbpl2 APN 2 24091093 missense probably damaging 1.00
IGL03075:Tbpl2 APN 2 24071985 utr 3 prime probably benign
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
R7378:Tbpl2 UTSW 2 24094700 missense probably benign 0.14
R7382:Tbpl2 UTSW 2 24087314 intron probably null
Posted On2016-08-02