Incidental Mutation 'R3433:Tnks1bp1'
| ID |
266272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks1bp1
|
| Ensembl Gene |
ENSMUSG00000033955 |
| Gene Name |
tankyrase 1 binding protein 1 |
| Synonyms |
TAB182 |
| MMRRC Submission |
040651-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 84901360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048400]
[ENSMUST00000111605]
|
| AlphaFold |
P58871 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048400
|
| SMART Domains |
Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
875 |
N/A |
INTRINSIC |
|
Tankyrase_bdg_C
|
883 |
1055 |
1.98e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111605
|
| SMART Domains |
Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1471 |
1489 |
N/A |
INTRINSIC |
|
low complexity region
|
1530 |
1537 |
N/A |
INTRINSIC |
|
Tankyrase_bdg_C
|
1545 |
1717 |
1.98e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151092
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,893,455 (GRCm39) |
W1302R |
probably damaging |
Het |
| Abcf1 |
A |
G |
17: 36,269,109 (GRCm39) |
Y689H |
probably benign |
Het |
| Adamtsl5 |
T |
C |
10: 80,178,725 (GRCm39) |
T218A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,987,358 (GRCm39) |
V2881L |
probably benign |
Het |
| Atp6v1b1 |
C |
A |
6: 83,720,074 (GRCm39) |
T3K |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,372,697 (GRCm39) |
R1112S |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,745,151 (GRCm39) |
D1331G |
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,400,643 (GRCm39) |
F696S |
possibly damaging |
Het |
| Cd33 |
T |
C |
7: 43,179,331 (GRCm39) |
T273A |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,392,146 (GRCm39) |
C562Y |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 67,967,963 (GRCm39) |
R816G |
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,584,268 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
G |
10: 76,932,102 (GRCm39) |
L329P |
unknown |
Het |
| Dnah9 |
T |
C |
11: 65,965,938 (GRCm39) |
M1693V |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,454,613 (GRCm39) |
I701T |
probably damaging |
Het |
| Figla |
G |
T |
6: 85,994,411 (GRCm39) |
R62L |
probably damaging |
Het |
| Gca |
T |
G |
2: 62,520,318 (GRCm39) |
S159R |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm10845 |
C |
T |
14: 80,100,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
T |
C |
7: 39,058,621 (GRCm39) |
K333E |
probably benign |
Het |
| Ift140 |
T |
C |
17: 25,255,282 (GRCm39) |
I466T |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,365 (GRCm39) |
K653E |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,426,742 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
T |
C |
2: 62,552,261 (GRCm39) |
D910G |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,145,131 (GRCm39) |
T177K |
probably benign |
Het |
| Lrrtm2 |
A |
C |
18: 35,346,950 (GRCm39) |
S117R |
probably damaging |
Het |
| Megf8 |
G |
T |
7: 25,059,549 (GRCm39) |
A2285S |
probably benign |
Het |
| Meiob |
T |
C |
17: 25,035,571 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
T |
11: 77,708,870 (GRCm39) |
|
probably null |
Het |
| Nars1 |
A |
T |
18: 64,642,374 (GRCm39) |
M156K |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,137,823 (GRCm39) |
S499P |
possibly damaging |
Het |
| Or2a57 |
A |
T |
6: 43,212,607 (GRCm39) |
I22F |
probably damaging |
Het |
| Or2r11 |
G |
A |
6: 42,437,888 (GRCm39) |
H22Y |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,577 (GRCm39) |
I218V |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,331 (GRCm39) |
S1715A |
probably benign |
Het |
| Ptprd |
C |
A |
4: 76,004,248 (GRCm39) |
|
probably null |
Het |
| Ros1 |
A |
G |
10: 51,967,204 (GRCm39) |
Y1668H |
probably benign |
Het |
| Rrbp1 |
A |
G |
2: 143,794,200 (GRCm39) |
|
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,444 (GRCm39) |
Y376C |
probably damaging |
Het |
| Seh1l |
A |
C |
18: 67,926,222 (GRCm39) |
K358T |
probably benign |
Het |
| Sema3e |
A |
T |
5: 14,302,728 (GRCm39) |
Y751F |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Spred2 |
G |
T |
11: 19,948,277 (GRCm39) |
E91* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,452,885 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
A |
G |
6: 42,663,508 (GRCm39) |
V124A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,906,052 (GRCm39) |
T493A |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,490,855 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Vgf |
T |
C |
5: 137,059,873 (GRCm39) |
F12L |
probably benign |
Het |
| Zfp13 |
G |
A |
17: 23,795,602 (GRCm39) |
T323I |
probably damaging |
Het |
|
| Other mutations in Tnks1bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00870:Tnks1bp1
|
APN |
2 |
84,892,580 (GRCm39) |
nonsense |
probably null |
|
|
IGL00974:Tnks1bp1
|
APN |
2 |
84,893,226 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01874:Tnks1bp1
|
APN |
2 |
84,888,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02419:Tnks1bp1
|
APN |
2 |
84,902,125 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02441:Tnks1bp1
|
APN |
2 |
84,902,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02475:Tnks1bp1
|
APN |
2 |
84,889,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03181:Tnks1bp1
|
APN |
2 |
84,893,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
K3955:Tnks1bp1
|
UTSW |
2 |
84,892,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
P0038:Tnks1bp1
|
UTSW |
2 |
84,892,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4791001:Tnks1bp1
|
UTSW |
2 |
84,892,902 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0068:Tnks1bp1
|
UTSW |
2 |
84,892,696 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0068:Tnks1bp1
|
UTSW |
2 |
84,892,696 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0164:Tnks1bp1
|
UTSW |
2 |
84,889,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0164:Tnks1bp1
|
UTSW |
2 |
84,889,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0189:Tnks1bp1
|
UTSW |
2 |
84,901,273 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0454:Tnks1bp1
|
UTSW |
2 |
84,902,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Tnks1bp1
|
UTSW |
2 |
84,892,974 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0737:Tnks1bp1
|
UTSW |
2 |
84,882,880 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1718:Tnks1bp1
|
UTSW |
2 |
84,902,082 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1749:Tnks1bp1
|
UTSW |
2 |
84,893,411 (GRCm39) |
missense |
probably benign |
|
|
R2194:Tnks1bp1
|
UTSW |
2 |
84,893,409 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2314:Tnks1bp1
|
UTSW |
2 |
84,889,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2379:Tnks1bp1
|
UTSW |
2 |
84,894,182 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3056:Tnks1bp1
|
UTSW |
2 |
84,900,344 (GRCm39) |
nonsense |
probably null |
|
|
R3751:Tnks1bp1
|
UTSW |
2 |
84,889,066 (GRCm39) |
start gained |
probably benign |
|
|
R4502:Tnks1bp1
|
UTSW |
2 |
84,892,991 (GRCm39) |
nonsense |
probably null |
|
|
R4694:Tnks1bp1
|
UTSW |
2 |
84,902,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Tnks1bp1
|
UTSW |
2 |
84,893,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Tnks1bp1
|
UTSW |
2 |
84,892,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Tnks1bp1
|
UTSW |
2 |
84,900,976 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5265:Tnks1bp1
|
UTSW |
2 |
84,893,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5512:Tnks1bp1
|
UTSW |
2 |
84,893,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5557:Tnks1bp1
|
UTSW |
2 |
84,894,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6016:Tnks1bp1
|
UTSW |
2 |
84,882,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Tnks1bp1
|
UTSW |
2 |
84,889,624 (GRCm39) |
start gained |
probably benign |
|
|
R6516:Tnks1bp1
|
UTSW |
2 |
84,901,071 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6517:Tnks1bp1
|
UTSW |
2 |
84,889,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Tnks1bp1
|
UTSW |
2 |
84,892,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7120:Tnks1bp1
|
UTSW |
2 |
84,902,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7302:Tnks1bp1
|
UTSW |
2 |
84,882,698 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7393:Tnks1bp1
|
UTSW |
2 |
84,893,210 (GRCm39) |
missense |
probably benign |
|
|
R7535:Tnks1bp1
|
UTSW |
2 |
84,893,624 (GRCm39) |
nonsense |
probably null |
|
|
R7596:Tnks1bp1
|
UTSW |
2 |
84,893,057 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7680:Tnks1bp1
|
UTSW |
2 |
84,889,585 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8345:Tnks1bp1
|
UTSW |
2 |
84,893,226 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8413:Tnks1bp1
|
UTSW |
2 |
84,892,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Tnks1bp1
|
UTSW |
2 |
84,900,980 (GRCm39) |
nonsense |
probably null |
|
|
R8936:Tnks1bp1
|
UTSW |
2 |
84,894,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8991:Tnks1bp1
|
UTSW |
2 |
84,894,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9007:Tnks1bp1
|
UTSW |
2 |
84,901,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9118:Tnks1bp1
|
UTSW |
2 |
84,893,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Tnks1bp1
|
UTSW |
2 |
84,902,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9732:Tnks1bp1
|
UTSW |
2 |
84,889,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tnks1bp1
|
UTSW |
2 |
84,893,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Tnks1bp1
|
UTSW |
2 |
84,889,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGCATGTTGCTCAGGTC -3'
(R):5'- GGCCCTGAGATGAAAGAACACC -3'
Sequencing Primer
(F):5'- GCTCAGGTCTCGATTCACG -3'
(R):5'- TTCCATCAAACTTGGCACACTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation