Incidental Mutation 'IGL02273:Tbpl2'
| ID |
287261 |
| 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 # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23961733-23986607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23986531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 5
(I5N)
|
| 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: I6N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000079309
Gene: ENSMUSG00000061809
AA Change: I6N
| 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: I5N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000120310
Gene: ENSMUSG00000061809
AA Change: I5N
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
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 |
|
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 |
2015-04-16 |
Incidental Mutation