Incidental Mutation 'IGL01874:Tnks1bp1'
ID |
178805 |
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 # |
IGL01874
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84888791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 373
(T373A)
|
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
AA Change: T373A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000107232 Gene: ENSMUSG00000033955 AA Change: T373A
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
A |
T |
13: 70,916,823 (GRCm39) |
V723D |
possibly damaging |
Het |
Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
Aox4 |
T |
C |
1: 58,291,243 (GRCm39) |
L787S |
probably damaging |
Het |
Atp2c1 |
A |
C |
9: 105,326,024 (GRCm39) |
V293G |
probably damaging |
Het |
Ccnb1 |
T |
C |
13: 100,920,001 (GRCm39) |
D170G |
probably damaging |
Het |
Cdc42 |
T |
C |
4: 137,063,381 (GRCm39) |
I4V |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,741,729 (GRCm39) |
Q1175R |
possibly damaging |
Het |
Cox6a1 |
A |
G |
5: 115,483,904 (GRCm39) |
*113Q |
probably null |
Het |
Crtc2 |
C |
T |
3: 90,165,815 (GRCm39) |
P139L |
probably damaging |
Het |
Cyp8b1 |
A |
T |
9: 121,744,969 (GRCm39) |
M121K |
possibly damaging |
Het |
D630003M21Rik |
C |
A |
2: 158,046,644 (GRCm39) |
G778C |
probably damaging |
Het |
Dgat1 |
A |
G |
15: 76,387,241 (GRCm39) |
F349L |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,816,602 (GRCm39) |
Y194C |
probably damaging |
Het |
Fam120b |
T |
A |
17: 15,623,301 (GRCm39) |
C426* |
probably null |
Het |
Fxyd3 |
A |
G |
7: 30,770,318 (GRCm39) |
|
probably benign |
Het |
Gin1 |
A |
G |
1: 97,710,797 (GRCm39) |
Y160C |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
Gm1818 |
T |
C |
12: 48,602,973 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1a2 |
T |
C |
9: 3,797,343 (GRCm39) |
S598P |
probably damaging |
Het |
Hook3 |
T |
A |
8: 26,529,760 (GRCm39) |
N199Y |
possibly damaging |
Het |
Il10ra |
A |
G |
9: 45,178,458 (GRCm39) |
L41P |
probably damaging |
Het |
Itgam |
C |
T |
7: 127,714,338 (GRCm39) |
T949I |
probably damaging |
Het |
Kctd3 |
A |
G |
1: 188,729,188 (GRCm39) |
V123A |
probably damaging |
Het |
Krt84 |
G |
A |
15: 101,436,239 (GRCm39) |
A450V |
probably damaging |
Het |
Lrrc7 |
G |
A |
3: 157,946,080 (GRCm39) |
|
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,355,980 (GRCm39) |
F608L |
probably damaging |
Het |
Niban2 |
A |
T |
2: 32,795,779 (GRCm39) |
|
probably null |
Het |
Nmbr |
A |
T |
10: 14,642,696 (GRCm39) |
Y85F |
probably benign |
Het |
Nol6 |
A |
C |
4: 41,115,412 (GRCm39) |
L1135R |
probably damaging |
Het |
Ntan1 |
T |
C |
16: 13,653,077 (GRCm39) |
F278L |
probably benign |
Het |
Or2n1e |
T |
A |
17: 38,586,408 (GRCm39) |
S249T |
probably benign |
Het |
Pcsk5 |
T |
A |
19: 17,573,041 (GRCm39) |
T474S |
probably damaging |
Het |
Pex11b |
T |
A |
3: 96,550,883 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
G |
T |
1: 20,173,459 (GRCm39) |
A3786E |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,552,858 (GRCm39) |
I2098T |
possibly damaging |
Het |
Prl2c5 |
T |
A |
13: 13,365,362 (GRCm39) |
S169R |
probably benign |
Het |
Ptbp2 |
A |
G |
3: 119,541,449 (GRCm39) |
V196A |
probably damaging |
Het |
Rad17 |
T |
C |
13: 100,754,192 (GRCm39) |
|
probably benign |
Het |
Skic2 |
T |
C |
17: 35,060,185 (GRCm39) |
N114D |
probably benign |
Het |
Slc47a2 |
T |
A |
11: 61,203,685 (GRCm39) |
|
probably null |
Het |
Srcin1 |
A |
T |
11: 97,423,924 (GRCm39) |
M684K |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,429,124 (GRCm39) |
C298S |
probably damaging |
Het |
Tenm3 |
G |
T |
8: 48,689,793 (GRCm39) |
Y1915* |
probably null |
Het |
Trp63 |
A |
C |
16: 25,701,335 (GRCm39) |
N470H |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,628,907 (GRCm39) |
N12703S |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,120,600 (GRCm39) |
|
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,449,602 (GRCm39) |
Y212F |
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 |
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 |
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 |
2014-05-07 |