Incidental Mutation 'R6347:Tbpl2'
ID |
520046 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbpl2
|
Ensembl Gene |
ENSMUSG00000061809 |
Gene Name |
TATA box binding protein like 2 |
Synonyms |
Trf3, LOC227606 |
MMRRC Submission |
044501-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.380)
|
Stock # |
R6347 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
23961733-23986607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23984715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 144
(P144L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079309
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080453]
[ENSMUST00000153338]
|
AlphaFold |
Q6SJ95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080453
AA Change: P144L
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000079309 Gene: ENSMUSG00000061809 AA Change: P144L
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: P143L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000120310 Gene: ENSMUSG00000061809 AA Change: P143L
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: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.3%
|
Validation Efficiency |
95% (41/43) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atat1 |
A |
G |
17: 36,220,921 (GRCm39) |
F3L |
probably damaging |
Het |
Atf7 |
T |
A |
15: 102,454,914 (GRCm39) |
M285L |
possibly damaging |
Het |
Bcl7b |
T |
C |
5: 135,209,387 (GRCm39) |
S95P |
possibly damaging |
Het |
Cald1 |
A |
C |
6: 34,741,981 (GRCm39) |
K453Q |
probably damaging |
Het |
Cimip1 |
G |
T |
2: 173,369,708 (GRCm39) |
R74L |
possibly damaging |
Het |
Cog4 |
A |
T |
8: 111,607,275 (GRCm39) |
I580F |
probably damaging |
Het |
Cpq |
T |
A |
15: 33,290,332 (GRCm39) |
|
probably null |
Het |
Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
Dst |
A |
G |
1: 34,218,765 (GRCm39) |
|
probably null |
Het |
Eif2b3 |
T |
C |
4: 116,901,763 (GRCm39) |
V142A |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,909,668 (GRCm39) |
N2111K |
probably damaging |
Het |
Fbxo31 |
C |
A |
8: 122,305,198 (GRCm39) |
E99D |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,863,487 (GRCm39) |
E34G |
probably damaging |
Het |
Flvcr2 |
T |
C |
12: 85,794,194 (GRCm39) |
V190A |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,844,151 (GRCm39) |
|
probably null |
Het |
Igkv3-2 |
A |
C |
6: 70,676,017 (GRCm39) |
M109L |
probably benign |
Het |
Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
Kif13b |
C |
T |
14: 65,005,068 (GRCm39) |
T1120I |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,515,833 (GRCm39) |
I2670T |
possibly damaging |
Het |
Lcp2 |
A |
G |
11: 34,032,501 (GRCm39) |
M360V |
probably benign |
Het |
Ldlrad4 |
A |
G |
18: 68,368,851 (GRCm39) |
S103G |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,596,709 (GRCm39) |
K88E |
probably damaging |
Het |
Ltbp2 |
C |
A |
12: 84,900,686 (GRCm39) |
R192L |
probably damaging |
Het |
Mast2 |
C |
A |
4: 116,174,929 (GRCm39) |
G475V |
probably damaging |
Het |
Meis1 |
A |
C |
11: 18,855,631 (GRCm39) |
|
probably null |
Het |
Mroh3 |
T |
C |
1: 136,128,675 (GRCm39) |
|
probably null |
Het |
Myo5b |
C |
T |
18: 74,903,456 (GRCm39) |
A1824V |
probably benign |
Het |
Nectin3 |
C |
T |
16: 46,278,487 (GRCm39) |
V303M |
probably benign |
Het |
Or5p52 |
T |
C |
7: 107,502,157 (GRCm39) |
S78P |
possibly damaging |
Het |
Peak1 |
T |
C |
9: 56,165,495 (GRCm39) |
N811S |
probably benign |
Het |
Pik3ca |
C |
T |
3: 32,516,970 (GRCm39) |
A1066V |
probably benign |
Het |
Rnf103 |
A |
G |
6: 71,482,808 (GRCm39) |
T153A |
possibly damaging |
Het |
Sacs |
G |
A |
14: 61,448,609 (GRCm39) |
V3552I |
probably damaging |
Het |
Sgca |
A |
T |
11: 94,862,854 (GRCm39) |
N109K |
probably damaging |
Het |
Speg |
T |
A |
1: 75,403,519 (GRCm39) |
M2621K |
probably benign |
Het |
Stfa2l1 |
T |
C |
16: 35,977,271 (GRCm39) |
I22T |
probably damaging |
Het |
Tmem219 |
T |
C |
7: 126,495,998 (GRCm39) |
N119S |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,643,084 (GRCm39) |
T4149A |
probably benign |
Het |
Wdr46 |
C |
A |
17: 34,160,826 (GRCm39) |
P197T |
probably damaging |
Het |
Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
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 |
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'- CACCATTATCCTGAAATTAGCTACC -3'
(R):5'- GCTTCTTACCAGATGAACTTACCC -3'
Sequencing Primer
(F):5'- CCTGAAATTAGCTACCATGTTCTG -3'
(R):5'- ATAGAGACCAAACTGTCACTGG -3'
|
Posted On |
2018-06-06 |