Incidental Mutation 'PIT4802001:Tbck'
| ID |
556717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbck
|
| Ensembl Gene |
ENSMUSG00000028030 |
| Gene Name |
TBC1 domain containing kinase |
| Synonyms |
A630047E20Rik, 1700120J03Rik, C030007I09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
PIT4802001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132389905-132547449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132458427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 686
(P686S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169172]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169172
AA Change: P686S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: P686S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
32 |
270 |
4.5e-29 |
PFAM |
|
Pfam:Pkinase
|
32 |
273 |
1.4e-39 |
PFAM |
|
Blast:TBC
|
366 |
450 |
5e-34 |
BLAST |
|
TBC
|
463 |
674 |
5.27e-46 |
SMART |
|
RHOD
|
780 |
886 |
2.67e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.0%
- 10x: 85.4%
- 20x: 73.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,902,172 (GRCm39) |
D741E |
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,139,351 (GRCm39) |
D1461G |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,706 (GRCm39) |
Y713H |
probably damaging |
Het |
| AW554918 |
A |
G |
18: 25,473,132 (GRCm39) |
E312G |
possibly damaging |
Het |
| Car4 |
G |
A |
11: 84,855,231 (GRCm39) |
A157T |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,849 (GRCm39) |
M238K |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,589,974 (GRCm39) |
H397Y |
possibly damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,039,611 (GRCm39) |
M295V |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,488,803 (GRCm39) |
Y586H |
probably benign |
Het |
| Ehbp1l1 |
G |
T |
19: 5,769,603 (GRCm39) |
P567T |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,464 (GRCm39) |
I754T |
probably damaging |
Het |
| Esyt2 |
G |
A |
12: 116,329,457 (GRCm39) |
A672T |
probably benign |
Het |
| Evx1 |
G |
T |
6: 52,291,175 (GRCm39) |
E116* |
probably null |
Het |
| Exph5 |
T |
C |
9: 53,286,278 (GRCm39) |
S1120P |
probably damaging |
Het |
| Fam184a |
A |
T |
10: 53,560,450 (GRCm39) |
L515* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,523,996 (GRCm39) |
D525E |
probably benign |
Het |
| Galt |
T |
C |
4: 41,756,764 (GRCm39) |
W135R |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,648 (GRCm39) |
C42S |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,610 (GRCm39) |
S186P |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,712 (GRCm39) |
E254G |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,278,996 (GRCm39) |
S1509P |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,414,972 (GRCm39) |
S295T |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,801 (GRCm39) |
Y2368* |
probably null |
Het |
| Mtmr4 |
T |
A |
11: 87,501,953 (GRCm39) |
V669E |
probably benign |
Het |
| Myh10 |
C |
T |
11: 68,655,918 (GRCm39) |
R471C |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,380,671 (GRCm39) |
T1416I |
unknown |
Het |
| Nrip1 |
A |
C |
16: 76,090,157 (GRCm39) |
S467A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,695,941 (GRCm39) |
N190Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,763 (GRCm39) |
L30Q |
probably null |
Het |
| Or5h25 |
A |
C |
16: 58,930,964 (GRCm39) |
M3R |
probably benign |
Het |
| Pdxp |
A |
G |
15: 78,802,611 (GRCm39) |
S282G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,904 (GRCm39) |
S220T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,540 (GRCm39) |
V2390E |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,529,229 (GRCm39) |
L783R |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,972 (GRCm39) |
A83T |
probably benign |
Het |
| Rab4b |
A |
G |
7: 26,875,267 (GRCm39) |
V50A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,351,100 (GRCm39) |
T370S |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,012,423 (GRCm39) |
I123F |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 75,046,991 (GRCm39) |
V1228D |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,963,539 (GRCm39) |
V23A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,313,996 (GRCm39) |
I346N |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,165 (GRCm39) |
Y457N |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,965,010 (GRCm39) |
S570P |
unknown |
Het |
| Tmc5 |
A |
T |
7: 118,271,449 (GRCm39) |
M921L |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,772,462 (GRCm39) |
Y1594C |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,546,008 (GRCm39) |
H1615Q |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,037 (GRCm39) |
Y197N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,845,068 (GRCm39) |
F2051L |
probably damaging |
Het |
| Wdr6 |
C |
T |
9: 108,451,765 (GRCm39) |
C706Y |
probably damaging |
Het |
| Zfand4 |
A |
G |
6: 116,261,736 (GRCm39) |
N100D |
probably damaging |
Het |
|
| Other mutations in Tbck |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Tbck
|
APN |
3 |
132,448,854 (GRCm39) |
splice site |
probably null |
|
|
IGL00492:Tbck
|
APN |
3 |
132,428,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01020:Tbck
|
APN |
3 |
132,432,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL01111:Tbck
|
APN |
3 |
132,400,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01299:Tbck
|
APN |
3 |
132,430,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02456:Tbck
|
APN |
3 |
132,440,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL02554:Tbck
|
APN |
3 |
132,456,953 (GRCm39) |
nonsense |
probably null |
|
|
IGL02640:Tbck
|
APN |
3 |
132,480,247 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02960:Tbck
|
APN |
3 |
132,428,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03184:Tbck
|
APN |
3 |
132,441,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03246:Tbck
|
APN |
3 |
132,480,331 (GRCm39) |
missense |
probably benign |
|
|
fear-4
|
UTSW |
3 |
132,430,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
Fuerchte
|
UTSW |
3 |
132,428,052 (GRCm39) |
splice site |
probably benign |
|
|
PIT1430001:Tbck
|
UTSW |
3 |
132,428,487 (GRCm39) |
missense |
probably benign |
|
|
R0113:Tbck
|
UTSW |
3 |
132,448,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Tbck
|
UTSW |
3 |
132,430,636 (GRCm39) |
missense |
probably benign |
|
|
R0241:Tbck
|
UTSW |
3 |
132,430,636 (GRCm39) |
missense |
probably benign |
|
|
R0309:Tbck
|
UTSW |
3 |
132,440,168 (GRCm39) |
nonsense |
probably null |
|
|
R0375:Tbck
|
UTSW |
3 |
132,456,993 (GRCm39) |
splice site |
probably benign |
|
|
R0571:Tbck
|
UTSW |
3 |
132,458,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Tbck
|
UTSW |
3 |
132,428,052 (GRCm39) |
splice site |
probably benign |
|
|
R1135:Tbck
|
UTSW |
3 |
132,437,952 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1184:Tbck
|
UTSW |
3 |
132,543,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1560:Tbck
|
UTSW |
3 |
132,543,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Tbck
|
UTSW |
3 |
132,421,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1659:Tbck
|
UTSW |
3 |
132,440,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Tbck
|
UTSW |
3 |
132,480,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1830:Tbck
|
UTSW |
3 |
132,543,772 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1884:Tbck
|
UTSW |
3 |
132,430,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3406:Tbck
|
UTSW |
3 |
132,432,845 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4021:Tbck
|
UTSW |
3 |
132,432,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4205:Tbck
|
UTSW |
3 |
132,543,789 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4503:Tbck
|
UTSW |
3 |
132,456,981 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4794:Tbck
|
UTSW |
3 |
132,392,729 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4795:Tbck
|
UTSW |
3 |
132,413,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4859:Tbck
|
UTSW |
3 |
132,507,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5282:Tbck
|
UTSW |
3 |
132,456,977 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5787:Tbck
|
UTSW |
3 |
132,443,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Tbck
|
UTSW |
3 |
132,507,278 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6145:Tbck
|
UTSW |
3 |
132,437,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Tbck
|
UTSW |
3 |
132,400,207 (GRCm39) |
missense |
probably benign |
|
|
R6242:Tbck
|
UTSW |
3 |
132,400,189 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6276:Tbck
|
UTSW |
3 |
132,448,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Tbck
|
UTSW |
3 |
132,392,703 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7107:Tbck
|
UTSW |
3 |
132,428,092 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7191:Tbck
|
UTSW |
3 |
132,443,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Tbck
|
UTSW |
3 |
132,458,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7719:Tbck
|
UTSW |
3 |
132,440,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Tbck
|
UTSW |
3 |
132,458,285 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8757:Tbck
|
UTSW |
3 |
132,392,587 (GRCm39) |
missense |
probably benign |
|
|
R8830:Tbck
|
UTSW |
3 |
132,543,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Tbck
|
UTSW |
3 |
132,440,106 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9069:Tbck
|
UTSW |
3 |
132,428,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9301:Tbck
|
UTSW |
3 |
132,543,738 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9525:Tbck
|
UTSW |
3 |
132,456,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9591:Tbck
|
UTSW |
3 |
132,400,195 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9657:Tbck
|
UTSW |
3 |
132,421,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Tbck
|
UTSW |
3 |
132,392,561 (GRCm39) |
start codon destroyed |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGTCAAGCATTTTATCAGCAC -3'
(R):5'- CTCAGTATGACCCGAGTTAGCC -3'
Sequencing Primer
(F):5'- CAAGCATTTTATCAGCACAGTTTAAC -3'
(R):5'- GAGTTAGCCTCTCATTCTCAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation