Incidental Mutation 'R6516:Tnks1bp1'
| ID |
520658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks1bp1
|
| Ensembl Gene |
ENSMUSG00000033955 |
| Gene Name |
tankyrase 1 binding protein 1 |
| Synonyms |
TAB182 |
| MMRRC Submission |
044643-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84901071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1593
(S1593P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048400]
[ENSMUST00000111605]
|
| AlphaFold |
P58871 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048400
AA Change: S931P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: S931P
| 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: S1593P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: S1593P
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
A |
T |
1: 161,780,235 (GRCm39) |
V93E |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,164,703 (GRCm39) |
L4P |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,571,236 (GRCm39) |
Y1136N |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,836,427 (GRCm39) |
R43W |
probably damaging |
Het |
| Ano8 |
G |
T |
8: 71,934,424 (GRCm39) |
|
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,429,766 (GRCm39) |
F370L |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,086,563 (GRCm39) |
V26A |
probably damaging |
Het |
| Cimap1a |
G |
A |
7: 140,428,718 (GRCm39) |
G128S |
probably damaging |
Het |
| Clec4a2 |
C |
A |
6: 123,116,365 (GRCm39) |
Q153K |
probably damaging |
Het |
| Cyp2c67 |
T |
A |
19: 39,605,873 (GRCm39) |
D341V |
probably damaging |
Het |
| Ddo |
T |
A |
10: 40,507,741 (GRCm39) |
V46E |
probably damaging |
Het |
| Deup1 |
A |
C |
9: 15,521,910 (GRCm39) |
M85R |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,960 (GRCm39) |
S1141R |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,356,212 (GRCm39) |
F2147L |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,518,178 (GRCm39) |
E1298G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,781,898 (GRCm39) |
V701E |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 62,996,607 (GRCm39) |
K447N |
probably benign |
Het |
| Eno2 |
G |
T |
6: 124,738,672 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
T |
A |
2: 130,456,221 (GRCm39) |
T790S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,589,636 (GRCm39) |
H111Q |
probably benign |
Het |
| Grk3 |
A |
T |
5: 113,109,415 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Kcnc2 |
A |
G |
10: 112,297,905 (GRCm39) |
T610A |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,101,089 (GRCm39) |
D560E |
possibly damaging |
Het |
| Klc4 |
A |
T |
17: 46,953,181 (GRCm39) |
N116K |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,206 (GRCm39) |
Q656* |
probably null |
Het |
| Mchr1 |
A |
G |
15: 81,122,069 (GRCm39) |
Y273C |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,957,996 (GRCm39) |
C938S |
probably benign |
Het |
| Nutm1 |
T |
C |
2: 112,081,562 (GRCm39) |
E367G |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,492,972 (GRCm39) |
I214K |
probably damaging |
Het |
| Or4e2 |
A |
T |
14: 52,688,586 (GRCm39) |
T239S |
probably damaging |
Het |
| Or5w18 |
A |
T |
2: 87,633,114 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,768 (GRCm39) |
N65S |
probably damaging |
Het |
| Pikfyve |
G |
T |
1: 65,304,940 (GRCm39) |
M1697I |
probably benign |
Het |
| Plcd1 |
A |
G |
9: 118,905,271 (GRCm39) |
S147P |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,593,223 (GRCm39) |
P113L |
probably damaging |
Het |
| Pum3 |
C |
A |
19: 27,403,408 (GRCm39) |
S31I |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,821,241 (GRCm39) |
V1327A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,200 (GRCm39) |
|
noncoding transcript |
Het |
| Rpl34 |
G |
A |
3: 130,522,716 (GRCm39) |
P50L |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,511,335 (GRCm39) |
S341P |
probably damaging |
Het |
| Sh3bp5 |
A |
T |
14: 31,097,629 (GRCm39) |
M362K |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,930,027 (GRCm39) |
T443A |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,154,427 (GRCm39) |
Y81C |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,788,105 (GRCm39) |
T496A |
probably benign |
Het |
| Smap2 |
C |
T |
4: 120,840,303 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
A |
2: 119,878,431 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
A |
G |
10: 23,847,564 (GRCm39) |
S321G |
possibly damaging |
Het |
| Tbx21 |
T |
C |
11: 96,990,782 (GRCm39) |
I299V |
possibly damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,663,957 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
| Tmem176a |
T |
G |
6: 48,821,002 (GRCm39) |
|
probably null |
Het |
| Tmem236 |
T |
C |
2: 14,200,791 (GRCm39) |
S119P |
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,567,987 (GRCm39) |
V247M |
probably damaging |
Het |
| Ttc9b |
T |
A |
7: 27,355,412 (GRCm39) |
D227E |
probably benign |
Het |
| Usp33 |
A |
C |
3: 152,079,053 (GRCm39) |
Q435P |
probably benign |
Het |
| Vti1a |
C |
T |
19: 55,369,390 (GRCm39) |
A94V |
probably damaging |
Het |
| Wdr3 |
A |
G |
3: 100,052,992 (GRCm39) |
Y587H |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,758,129 (GRCm39) |
A739V |
probably benign |
Het |
| Zfp628 |
C |
G |
7: 4,923,201 (GRCm39) |
Y474* |
probably null |
Het |
| Zfp820 |
A |
T |
17: 22,038,354 (GRCm39) |
C325S |
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 |
|
|
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 |
|
|
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'- AGCCATCAATCAGCTCCTG -3'
(R):5'- TGAGGCTCCTCTACAACCTC -3'
Sequencing Primer
(F):5'- CAATCAGCTCCTGGTTTATGTTGAG -3'
(R):5'- CTCTACAACCTCCTCATCTGAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation