Incidental Mutation 'R5208:Tnks1bp1'
ID |
402129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnks1bp1
|
Ensembl Gene |
ENSMUSG00000033955 |
Gene Name |
tankyrase 1 binding protein 1 |
Synonyms |
TAB182 |
MMRRC Submission |
042783-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5208 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84900976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1561
(M1561T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048400]
[ENSMUST00000111605]
|
AlphaFold |
P58871 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048400
AA Change: M899T
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000045767 Gene: ENSMUSG00000033955 AA Change: M899T
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 damaging
Transcript: ENSMUST00000111605
AA Change: M1561T
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107232 Gene: ENSMUSG00000033955 AA Change: M1561T
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,344,398 (GRCm39) |
N58I |
probably benign |
Het |
Adgra3 |
T |
C |
5: 50,168,857 (GRCm39) |
D163G |
probably damaging |
Het |
Alcam |
C |
A |
16: 52,115,411 (GRCm39) |
E236* |
probably null |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Aplf |
G |
T |
6: 87,619,008 (GRCm39) |
|
probably null |
Het |
Arl4a |
A |
T |
12: 40,086,744 (GRCm39) |
M1K |
probably null |
Het |
Asic4 |
A |
G |
1: 75,427,870 (GRCm39) |
D132G |
probably damaging |
Het |
Bbs12 |
T |
C |
3: 37,374,422 (GRCm39) |
I290T |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,008,865 (GRCm39) |
S290P |
probably benign |
Het |
Bmp6 |
G |
A |
13: 38,653,673 (GRCm39) |
A247T |
probably benign |
Het |
Cadps |
A |
G |
14: 12,457,711 (GRCm38) |
S1057P |
possibly damaging |
Het |
Caprin1 |
A |
C |
2: 103,599,778 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
G |
A |
19: 6,371,750 (GRCm39) |
R1343K |
probably benign |
Het |
Cdk18 |
A |
T |
1: 132,045,218 (GRCm39) |
|
probably null |
Het |
Cenpf |
A |
T |
1: 189,403,243 (GRCm39) |
|
probably null |
Het |
Cfhr1 |
A |
T |
1: 139,484,068 (GRCm39) |
|
probably null |
Het |
Chn2 |
A |
T |
6: 54,272,786 (GRCm39) |
I201F |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,673,129 (GRCm39) |
D175G |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dnah3 |
C |
G |
7: 119,631,861 (GRCm39) |
D1365H |
probably damaging |
Het |
Efcab8 |
T |
A |
2: 153,644,343 (GRCm39) |
Y372* |
probably null |
Het |
Eftud2 |
G |
A |
11: 102,732,011 (GRCm39) |
P768S |
probably damaging |
Het |
Ehmt1 |
A |
C |
2: 24,691,545 (GRCm39) |
S1170A |
probably benign |
Het |
Gdpd4 |
A |
C |
7: 97,664,118 (GRCm39) |
K572Q |
probably benign |
Het |
Gm7356 |
T |
C |
17: 14,221,456 (GRCm39) |
E191G |
probably damaging |
Het |
Gm8674 |
A |
T |
13: 50,055,957 (GRCm39) |
|
noncoding transcript |
Het |
Gulp1 |
T |
G |
1: 44,820,199 (GRCm39) |
H235Q |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,485,418 (GRCm39) |
V202A |
possibly damaging |
Het |
Inpp5b |
G |
A |
4: 124,645,110 (GRCm39) |
D179N |
possibly damaging |
Het |
Kcnk4 |
T |
A |
19: 6,905,069 (GRCm39) |
Y194F |
possibly damaging |
Het |
Lars1 |
A |
C |
18: 42,350,622 (GRCm39) |
S896A |
probably benign |
Het |
Lonp1 |
A |
G |
17: 56,924,793 (GRCm39) |
V538A |
probably damaging |
Het |
Map3k14 |
A |
T |
11: 103,129,972 (GRCm39) |
L315Q |
probably damaging |
Het |
Met |
T |
A |
6: 17,526,422 (GRCm39) |
Y500* |
probably null |
Het |
Mga |
T |
G |
2: 119,778,462 (GRCm39) |
I2093M |
possibly damaging |
Het |
Mpl |
T |
G |
4: 118,313,078 (GRCm39) |
I152L |
probably benign |
Het |
Mthfsd |
G |
A |
8: 121,835,058 (GRCm39) |
|
probably benign |
Het |
Mup4 |
A |
G |
4: 59,958,119 (GRCm39) |
F150L |
probably damaging |
Het |
Mybph |
T |
A |
1: 134,121,273 (GRCm39) |
V11D |
probably benign |
Het |
Or4f54 |
A |
T |
2: 111,122,946 (GRCm39) |
E111V |
probably damaging |
Het |
Or52n2c |
A |
G |
7: 104,574,933 (GRCm39) |
F13L |
probably benign |
Het |
Or5ak20 |
T |
A |
2: 85,184,142 (GRCm39) |
I43F |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,114,854 (GRCm39) |
|
probably null |
Het |
Pex2 |
C |
T |
3: 5,626,428 (GRCm39) |
R127H |
probably benign |
Het |
Pgap3 |
A |
G |
11: 98,288,874 (GRCm39) |
W94R |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,202,467 (GRCm39) |
V14A |
probably benign |
Het |
Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,822,548 (GRCm39) |
Y209C |
probably damaging |
Het |
Scart2 |
C |
A |
7: 139,877,949 (GRCm39) |
A977D |
probably benign |
Het |
Sema4c |
T |
A |
1: 36,589,407 (GRCm39) |
D573V |
probably damaging |
Het |
Setx |
A |
T |
2: 29,056,379 (GRCm39) |
I2192F |
possibly damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Sp4 |
A |
G |
12: 118,263,281 (GRCm39) |
L255P |
probably damaging |
Het |
Spaca7 |
A |
G |
8: 12,636,456 (GRCm39) |
Y94C |
probably damaging |
Het |
Stt3a |
T |
G |
9: 36,657,891 (GRCm39) |
I390L |
possibly damaging |
Het |
Tars2 |
A |
G |
3: 95,654,905 (GRCm39) |
W128R |
probably damaging |
Het |
Tll1 |
G |
A |
8: 64,504,527 (GRCm39) |
T623M |
probably damaging |
Het |
Tmem129 |
A |
T |
5: 33,812,850 (GRCm39) |
V166E |
probably damaging |
Het |
Tmem200a |
T |
A |
10: 25,870,051 (GRCm39) |
I73F |
probably benign |
Het |
Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
Zfp142 |
A |
T |
1: 74,610,027 (GRCm39) |
V1153E |
probably benign |
Het |
Zwilch |
T |
C |
9: 64,060,205 (GRCm39) |
I354V |
probably benign |
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 |
|
R3433:Tnks1bp1
|
UTSW |
2 |
84,901,360 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- TTTCCTGAGCAGTCATGGGAG -3'
(R):5'- AGACCTGAGCAACATGCCAG -3'
Sequencing Primer
(F):5'- GACAGACATAGGCTGTGGGGTATC -3'
(R):5'- TGAGCAACATGCCAGACACC -3'
|
Posted On |
2016-07-22 |