Incidental Mutation 'R1208:Tbpl2'
| ID |
100498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbpl2
|
| Ensembl Gene |
ENSMUSG00000061809 |
| Gene Name |
TATA box binding protein like 2 |
| Synonyms |
Trf3, LOC227606 |
| MMRRC Submission |
039277-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.380)
|
| Stock # |
R1208 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
23961733-23986607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23984783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 120
(N120K)
|
| 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: N121K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000079309
Gene: ENSMUSG00000061809
AA Change: N121K
| 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: N120K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120310
Gene: ENSMUSG00000061809
AA Change: N120K
| 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 |
- 1x: 99.3%
- 3x: 97.8%
- 10x: 91.7%
- 20x: 74.6%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
| Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
| Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
16: 36,735,567 (GRCm39) |
|
probably null |
Het |
| Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
| Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
| Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
| Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
| Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
| Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
| Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
| Perm1 |
T |
C |
4: 156,301,459 (GRCm39) |
M1T |
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
| Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
| Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Het |
| Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
| Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tbpl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAATCAAACTCCGTTGTGTTTACCC -3'
(R):5'- AGGCATCCACTGACTTTTCATCTGTG -3'
Sequencing Primer
(F):5'- agaagaaggggaaggaggac -3'
(R):5'- GGATCTAAGCTTCTTACCAGATGAAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation