Incidental Mutation 'IGL01540:Tbpl2'
| ID |
90131 |
| 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)
|
| Stock # |
IGL01540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23961733-23986607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23984985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 53
(H53R)
|
| 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: H54R
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000079309
Gene: ENSMUSG00000061809
AA Change: H54R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TBP
|
173 |
255 |
1.2e-33 |
PFAM |
|
Pfam:TBP
|
263 |
347 |
1.6e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153338
AA Change: H53R
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120310
Gene: ENSMUSG00000061809
AA Change: H53R
| Domain | Start | End | E-Value | Type |
|---|
|
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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,151,252 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,805,727 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,959 (GRCm39) |
|
probably benign |
Het |
| Golim4 |
T |
G |
3: 75,794,047 (GRCm39) |
E538A |
possibly damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,175 (GRCm39) |
V580D |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,247,017 (GRCm39) |
T1115A |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,910 (GRCm39) |
S18P |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,625,887 (GRCm39) |
L674P |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,815,146 (GRCm39) |
Q400L |
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,218,761 (GRCm39) |
S32P |
possibly damaging |
Het |
| Or10a3b |
G |
T |
7: 108,444,887 (GRCm39) |
T110N |
probably damaging |
Het |
| Or6b2 |
A |
G |
1: 92,408,202 (GRCm39) |
L47P |
probably damaging |
Het |
| Pycard |
T |
A |
7: 127,592,002 (GRCm39) |
D113V |
probably benign |
Het |
| S100z |
G |
A |
13: 95,613,861 (GRCm39) |
T83M |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,084 (GRCm39) |
D381G |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,016 (GRCm39) |
H4331Q |
possibly damaging |
Het |
| Tlr6 |
T |
C |
5: 65,112,629 (GRCm39) |
R93G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,968,998 (GRCm39) |
E172G |
probably benign |
Het |
| Vrk3 |
A |
G |
7: 44,416,568 (GRCm39) |
H277R |
probably damaging |
Het |
| Zfp512 |
T |
C |
5: 31,630,840 (GRCm39) |
V338A |
probably damaging |
Het |
|
| Other mutations in Tbpl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03118:Tbpl2
|
APN |
2 |
23,977,301 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
2013-12-03 |
Incidental Mutation