Incidental Mutation 'R3751:Tnks1bp1'
| ID |
473448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks1bp1
|
| Ensembl Gene |
ENSMUSG00000033955 |
| Gene Name |
tankyrase 1 binding protein 1 |
| Synonyms |
TAB182 |
| MMRRC Submission |
040736-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3751 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 84889066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045767
(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 |
silent
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: ENSMUST00000148682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151092
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
93% (43/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
T |
7: 12,289,973 (GRCm39) |
R183I |
probably benign |
Het |
| BC016579 |
A |
T |
16: 45,453,361 (GRCm39) |
|
probably null |
Het |
| BC051665 |
A |
T |
13: 60,931,145 (GRCm39) |
F258I |
probably damaging |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,814,459 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ceacam18 |
T |
A |
7: 43,291,372 (GRCm39) |
H271Q |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,066,213 (GRCm39) |
Y137C |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,724,424 (GRCm39) |
V212A |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,777,216 (GRCm39) |
M885K |
probably benign |
Het |
| Col6a4 |
G |
T |
9: 105,949,313 (GRCm39) |
T774N |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,403 (GRCm39) |
T1049A |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,239 (GRCm39) |
I276V |
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,477,420 (GRCm39) |
H34R |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,801,921 (GRCm39) |
H32L |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,532,998 (GRCm39) |
I141M |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,641 (GRCm39) |
I121N |
probably damaging |
Het |
| Krtap17-1 |
A |
T |
11: 99,884,481 (GRCm39) |
C95* |
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,058 (GRCm39) |
Y748C |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,867,742 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,997 (GRCm39) |
L31P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,183,284 (GRCm39) |
Q886R |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,118,115 (GRCm39) |
|
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or6c38 |
T |
A |
10: 128,929,175 (GRCm39) |
I223F |
probably damaging |
Het |
| Or7h8 |
C |
T |
9: 20,124,556 (GRCm39) |
L304F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,337,447 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
T |
G |
6: 57,501,845 (GRCm39) |
E106A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Rnf214 |
A |
C |
9: 45,778,901 (GRCm39) |
I581S |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,316,417 (GRCm39) |
V1049A |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,295,292 (GRCm39) |
L262P |
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,929,928 (GRCm39) |
V139I |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,250,912 (GRCm39) |
L684M |
probably damaging |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,382 (GRCm39) |
T152A |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
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 |
|
|
R3433:Tnks1bp1
|
UTSW |
2 |
84,901,360 (GRCm39) |
splice site |
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation