Incidental Mutation 'R6936:Tbpl2'
ID |
540275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbpl2
|
Ensembl Gene |
ENSMUSG00000061809 |
Gene Name |
TATA box binding protein like 2 |
Synonyms |
Trf3, LOC227606 |
MMRRC Submission |
045050-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.380)
|
Stock # |
R6936 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
23961733-23986607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23984953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 64
(T64A)
|
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: T65A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000079309 Gene: ENSMUSG00000061809 AA Change: T65A
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: T64A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000120310 Gene: ENSMUSG00000061809 AA Change: T64A
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: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.7%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,248,568 (GRCm39) |
I2772F |
probably damaging |
Het |
Adam1a |
A |
G |
5: 121,657,425 (GRCm39) |
C623R |
probably damaging |
Het |
Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
Ak4 |
C |
T |
4: 101,304,456 (GRCm39) |
A82V |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,037,376 (GRCm39) |
C617* |
probably null |
Het |
Art1 |
A |
T |
7: 101,755,977 (GRCm39) |
D56V |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,606,057 (GRCm39) |
D1392G |
probably damaging |
Het |
Bbs5 |
T |
C |
2: 69,484,698 (GRCm39) |
S123P |
probably damaging |
Het |
Cabin1 |
A |
T |
10: 75,551,592 (GRCm39) |
|
probably null |
Het |
Carmil3 |
G |
A |
14: 55,739,018 (GRCm39) |
E891K |
probably benign |
Het |
Cbfa2t3 |
C |
G |
8: 123,374,478 (GRCm39) |
R89P |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,094,030 (GRCm39) |
S534P |
probably benign |
Het |
Cep72 |
A |
T |
13: 74,188,206 (GRCm39) |
I229N |
probably damaging |
Het |
Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
Cyp2c70 |
A |
G |
19: 40,156,007 (GRCm39) |
V181A |
probably damaging |
Het |
Cyp2d26 |
C |
T |
15: 82,676,741 (GRCm39) |
D202N |
probably benign |
Het |
Dbh |
A |
G |
2: 27,062,809 (GRCm39) |
K343E |
probably benign |
Het |
Dlx5 |
A |
G |
6: 6,879,585 (GRCm39) |
Y161H |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,409,414 (GRCm39) |
I3611F |
probably damaging |
Het |
Egf |
A |
C |
3: 129,474,853 (GRCm39) |
F563V |
possibly damaging |
Het |
Enpp1 |
T |
C |
10: 24,527,237 (GRCm39) |
H650R |
probably benign |
Het |
Exoc6 |
A |
G |
19: 37,560,311 (GRCm39) |
I109M |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgg |
C |
T |
3: 82,915,727 (GRCm39) |
S56F |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,916,211 (GRCm39) |
D3415G |
possibly damaging |
Het |
Ghsr |
A |
G |
3: 27,426,474 (GRCm39) |
I177V |
probably benign |
Het |
Gm1979 |
A |
T |
5: 26,207,028 (GRCm39) |
H62Q |
probably benign |
Het |
Gpatch2 |
A |
G |
1: 186,965,433 (GRCm39) |
D313G |
probably benign |
Het |
Gtf2i |
C |
T |
5: 134,271,639 (GRCm39) |
E823K |
probably damaging |
Het |
Hook2 |
C |
A |
8: 85,729,627 (GRCm39) |
T689N |
probably benign |
Het |
Hrnr |
A |
T |
3: 93,239,667 (GRCm39) |
N3302Y |
unknown |
Het |
Igkv7-33 |
G |
A |
6: 70,035,785 (GRCm39) |
P66S |
possibly damaging |
Het |
Kcnh2 |
T |
A |
5: 24,529,337 (GRCm39) |
I800F |
probably damaging |
Het |
Mcmbp |
G |
A |
7: 128,326,920 (GRCm39) |
Q21* |
probably null |
Het |
Mmp21 |
T |
C |
7: 133,280,704 (GRCm39) |
K89E |
probably benign |
Het |
Or4b13 |
A |
G |
2: 90,082,678 (GRCm39) |
V218A |
probably benign |
Het |
Or52r1c |
A |
T |
7: 102,735,021 (GRCm39) |
I94F |
probably damaging |
Het |
Pcdhga4 |
A |
G |
18: 37,820,458 (GRCm39) |
D669G |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,832,997 (GRCm39) |
T169A |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,540,369 (GRCm39) |
N35S |
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,798,148 (GRCm39) |
T46S |
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,548 (GRCm39) |
S120P |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,911,297 (GRCm39) |
H1111Q |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,211,638 (GRCm39) |
F402L |
probably benign |
Het |
Tmem120b |
T |
G |
5: 123,254,287 (GRCm39) |
V287G |
possibly damaging |
Het |
Tmem150c |
T |
C |
5: 100,231,577 (GRCm39) |
T133A |
possibly damaging |
Het |
Ubqln3 |
A |
T |
7: 103,791,517 (GRCm39) |
V191D |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,283,957 (GRCm39) |
E564G |
possibly damaging |
Het |
Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
probably damaging |
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 |
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 |
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'- TTCAAGTTCAGCTCACTGCC -3'
(R):5'- ATCTTGGACCACCTTGTAGACTG -3'
Sequencing Primer
(F):5'- CATGTTCATCGGGCAACTGC -3'
(R):5'- ACCTTGTAGACTGAACCCATTG -3'
|
Posted On |
2018-11-06 |