Incidental Mutation 'IGL03181:Tnks1bp1'
ID |
412263 |
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 # |
IGL03181
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84893058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 333
(T333I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048400]
[ENSMUST00000111605]
|
AlphaFold |
P58871 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048400
AA Change: T333I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000045767 Gene: ENSMUSG00000033955 AA Change: T333I
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
AA Change: T995I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107232 Gene: ENSMUSG00000033955 AA Change: T995I
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: ENSMUST00000148682
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151092
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,240,147 (GRCm39) |
V1319A |
possibly damaging |
Het |
Abcb11 |
T |
A |
2: 69,158,352 (GRCm39) |
|
probably benign |
Het |
Acss3 |
G |
T |
10: 106,889,249 (GRCm39) |
H190Q |
probably damaging |
Het |
Adra2b |
C |
T |
2: 127,205,903 (GRCm39) |
T140I |
probably benign |
Het |
Arl1 |
T |
A |
10: 88,578,921 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
G |
7: 30,424,129 (GRCm39) |
C968G |
probably benign |
Het |
Clec4n |
T |
C |
6: 123,207,474 (GRCm39) |
C13R |
possibly damaging |
Het |
Cnot3 |
T |
C |
7: 3,656,247 (GRCm39) |
Y178H |
probably damaging |
Het |
Col18a1 |
G |
A |
10: 76,891,532 (GRCm39) |
R1560C |
probably damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,130,483 (GRCm39) |
F106S |
probably benign |
Het |
Dcn |
A |
C |
10: 97,319,314 (GRCm39) |
E30D |
probably damaging |
Het |
Dennd5a |
A |
T |
7: 109,532,865 (GRCm39) |
F302I |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,113,088 (GRCm39) |
V1501A |
probably damaging |
Het |
Dnah10 |
C |
T |
5: 124,825,521 (GRCm39) |
P687S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,794,755 (GRCm39) |
T387A |
probably benign |
Het |
Dusp7 |
T |
A |
9: 106,251,009 (GRCm39) |
M378K |
probably damaging |
Het |
Ftmt |
T |
C |
18: 52,464,953 (GRCm39) |
Y90H |
probably damaging |
Het |
Glb1l3 |
T |
C |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
Gpatch3 |
T |
C |
4: 133,305,433 (GRCm39) |
F223L |
probably damaging |
Het |
Gpr158 |
T |
A |
2: 21,787,972 (GRCm39) |
F538I |
probably benign |
Het |
Gucy2e |
A |
G |
11: 69,121,008 (GRCm39) |
|
probably benign |
Het |
Hadha |
A |
G |
5: 30,326,524 (GRCm39) |
V566A |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,492,021 (GRCm39) |
S3787C |
possibly damaging |
Het |
Hnrnpk |
A |
T |
13: 58,542,130 (GRCm39) |
D265E |
possibly damaging |
Het |
Hspbp1 |
G |
A |
7: 4,687,363 (GRCm39) |
R83W |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,243,248 (GRCm39) |
L758Q |
probably damaging |
Het |
Ippk |
A |
G |
13: 49,595,463 (GRCm39) |
Y180C |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,242 (GRCm39) |
M1620K |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,074,885 (GRCm39) |
K298R |
possibly damaging |
Het |
Ktn1 |
A |
T |
14: 47,970,741 (GRCm39) |
T1229S |
probably benign |
Het |
Lefty2 |
A |
G |
1: 180,725,115 (GRCm39) |
N282D |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,507,242 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
G |
A |
13: 55,394,858 (GRCm39) |
E820K |
probably damaging |
Het |
Obsl1 |
C |
A |
1: 75,469,228 (GRCm39) |
A1238S |
probably benign |
Het |
Odr4 |
G |
T |
1: 150,239,290 (GRCm39) |
P378T |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,220,938 (GRCm39) |
I391T |
possibly damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,241,516 (GRCm39) |
G764* |
probably null |
Het |
Ptpra |
T |
C |
2: 130,359,707 (GRCm39) |
F158L |
probably damaging |
Het |
Recql |
T |
C |
6: 142,323,918 (GRCm39) |
S59G |
probably benign |
Het |
Rrp1b |
A |
T |
17: 32,276,150 (GRCm39) |
I566F |
probably benign |
Het |
Sh3yl1 |
G |
A |
12: 30,991,979 (GRCm39) |
D145N |
possibly damaging |
Het |
Slc35f5 |
T |
A |
1: 125,512,922 (GRCm39) |
I52N |
probably damaging |
Het |
Slc51b |
A |
G |
9: 65,322,447 (GRCm39) |
|
probably null |
Het |
Smpd4 |
C |
T |
16: 17,443,671 (GRCm39) |
Q72* |
probably null |
Het |
Spata6 |
A |
G |
4: 111,679,963 (GRCm39) |
D391G |
probably benign |
Het |
Tnc |
T |
A |
4: 63,885,543 (GRCm39) |
D1853V |
possibly damaging |
Het |
Vmn2r100 |
T |
A |
17: 19,752,207 (GRCm39) |
I813N |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,246,690 (GRCm39) |
H677Q |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,426,883 (GRCm39) |
Y1064H |
probably damaging |
Het |
Wdr82 |
T |
A |
9: 106,063,614 (GRCm39) |
I272K |
probably benign |
Het |
Zc3h12a |
T |
C |
4: 125,013,097 (GRCm39) |
Y589C |
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 |
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 |
2016-08-02 |