Incidental Mutation 'IGL02441:Tnks1bp1'
| ID |
293961 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnks1bp1
|
| Ensembl Gene |
ENSMUSG00000033955 |
| Gene Name |
tankyrase 1 binding protein 1 |
| Synonyms |
TAB182 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02441
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84902143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1680
(S1680T)
|
| 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: S1018T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: S1018T
| 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: S1680T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: S1680T
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
C |
T |
7: 97,029,504 (GRCm39) |
R179C |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,631 (GRCm39) |
M242T |
probably damaging |
Het |
| Atad1 |
C |
T |
19: 32,684,348 (GRCm39) |
V17I |
probably benign |
Het |
| Bag4 |
A |
G |
8: 26,258,136 (GRCm39) |
V397A |
probably damaging |
Het |
| Brd7 |
A |
G |
8: 89,070,218 (GRCm39) |
V396A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr4 |
T |
A |
9: 107,870,466 (GRCm39) |
I123N |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,189,186 (GRCm39) |
F609L |
probably benign |
Het |
| Clec3b |
C |
A |
9: 122,980,178 (GRCm39) |
P24T |
possibly damaging |
Het |
| Ctsg |
T |
A |
14: 56,339,869 (GRCm39) |
T9S |
probably benign |
Het |
| Dalrd3 |
A |
T |
9: 108,448,725 (GRCm39) |
|
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,753,222 (GRCm39) |
V286E |
possibly damaging |
Het |
| Dpep2 |
G |
A |
8: 106,711,723 (GRCm39) |
A568V |
probably benign |
Het |
| Dph5 |
A |
C |
3: 115,720,390 (GRCm39) |
Q192P |
possibly damaging |
Het |
| Eppin |
T |
A |
2: 164,433,698 (GRCm39) |
R37* |
probably null |
Het |
| Esyt1 |
A |
G |
10: 128,348,293 (GRCm39) |
L865P |
possibly damaging |
Het |
| Exoc6b |
A |
G |
6: 84,981,990 (GRCm39) |
L102P |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,125,232 (GRCm39) |
I521T |
possibly damaging |
Het |
| Guca1a |
A |
T |
17: 47,705,578 (GRCm39) |
|
probably benign |
Het |
| Hpx |
A |
G |
7: 105,241,430 (GRCm39) |
F327S |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,980,515 (GRCm39) |
M145V |
probably null |
Het |
| Hspa4 |
A |
T |
11: 53,161,809 (GRCm39) |
S448T |
probably benign |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,759 (GRCm39) |
Y422H |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,937,441 (GRCm39) |
D677V |
probably benign |
Het |
| Ldb1 |
C |
T |
19: 46,024,195 (GRCm39) |
E111K |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,281,029 (GRCm39) |
S3823P |
probably damaging |
Het |
| Man1a2 |
G |
A |
3: 100,499,189 (GRCm39) |
T415I |
probably benign |
Het |
| Map3k2 |
T |
C |
18: 32,333,099 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
A |
2: 35,945,038 (GRCm39) |
Y87* |
probably null |
Het |
| Mpp3 |
T |
C |
11: 101,900,501 (GRCm39) |
D326G |
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,336 (GRCm39) |
H137R |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,102,260 (GRCm39) |
P292T |
probably damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,338,566 (GRCm39) |
|
probably null |
Het |
| Noxo1 |
G |
A |
17: 24,918,030 (GRCm39) |
S112N |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,212,885 (GRCm39) |
K319N |
probably benign |
Het |
| Or8b38 |
A |
T |
9: 37,973,233 (GRCm39) |
I206L |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,958,528 (GRCm39) |
Q728K |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,280,282 (GRCm39) |
E702D |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,205,933 (GRCm39) |
D1492G |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,908,103 (GRCm39) |
K1007E |
possibly damaging |
Het |
| Ppp6r3 |
G |
A |
19: 3,514,693 (GRCm39) |
P141S |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,473,977 (GRCm39) |
T354A |
probably damaging |
Het |
| Ptk2 |
C |
A |
15: 73,192,675 (GRCm39) |
W181L |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,995,527 (GRCm39) |
H915Q |
probably benign |
Het |
| Selenbp2 |
G |
T |
3: 94,611,371 (GRCm39) |
V361L |
probably benign |
Het |
| Slamf7 |
A |
G |
1: 171,468,625 (GRCm39) |
L89P |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,937,505 (GRCm39) |
V599M |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,494,467 (GRCm39) |
S921I |
probably damaging |
Het |
| Smc4 |
C |
A |
3: 68,913,544 (GRCm39) |
A44E |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,087,513 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,866,845 (GRCm39) |
I68N |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,197,438 (GRCm39) |
V386A |
possibly damaging |
Het |
| Tpx2 |
C |
A |
2: 152,724,207 (GRCm39) |
P328T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,576,332 (GRCm39) |
I24854F |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,552 (GRCm39) |
R43H |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,611 (GRCm39) |
L784S |
possibly damaging |
Het |
| Zfp703 |
T |
C |
8: 27,470,036 (GRCm39) |
S567P |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,455 (GRCm39) |
I140T |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation