Incidental Mutation 'R9007:Tnks1bp1'
| ID |
685343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks1bp1
|
| Ensembl Gene |
ENSMUSG00000033955 |
| Gene Name |
tankyrase 1 binding protein 1 |
| Synonyms |
TAB182 |
| MMRRC Submission |
068837-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9007 (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 A
at 84901048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1585
(L1585Q)
|
| 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: L923Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: L923Q
| 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: L1585Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: L1585Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,226,935 (GRCm39) |
C497S |
probably benign |
Het |
| 4930453N24Rik |
A |
T |
16: 64,589,377 (GRCm39) |
Y92* |
probably null |
Het |
| Adam3 |
A |
G |
8: 25,205,127 (GRCm39) |
V117A |
probably benign |
Het |
| Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,011,695 (GRCm39) |
D4V |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,029,988 (GRCm39) |
K692R |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,684,931 (GRCm39) |
V730A |
probably benign |
Het |
| Bdh2 |
T |
C |
3: 134,991,309 (GRCm39) |
|
probably benign |
Het |
| Ccnd3 |
T |
A |
17: 47,905,332 (GRCm39) |
|
probably null |
Het |
| Chrm4 |
T |
C |
2: 91,758,075 (GRCm39) |
V161A |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,751,892 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,087,930 (GRCm39) |
S349P |
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,697,370 (GRCm39) |
N244S |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,500,825 (GRCm39) |
|
probably benign |
Het |
| Dppa3 |
T |
C |
6: 122,605,724 (GRCm39) |
S93P |
probably damaging |
Het |
| Echdc1 |
T |
C |
10: 29,220,426 (GRCm39) |
I217T |
probably damaging |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,416 (GRCm39) |
L141Q |
probably damaging |
Het |
| Galnt15 |
T |
C |
14: 31,771,935 (GRCm39) |
F451L |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,692,665 (GRCm39) |
R33H |
probably benign |
Het |
| Iah1 |
G |
A |
12: 21,367,402 (GRCm39) |
G36D |
probably damaging |
Het |
| Jakmip1 |
A |
G |
5: 37,332,857 (GRCm39) |
D1179G |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 192,188,055 (GRCm39) |
T866A |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,555,150 (GRCm39) |
I678F |
probably benign |
Het |
| Lars2 |
A |
T |
9: 123,260,980 (GRCm39) |
R384* |
probably null |
Het |
| Lman2 |
T |
C |
13: 55,500,773 (GRCm39) |
D142G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,587,564 (GRCm39) |
D3897G |
|
Het |
| Lrrn1 |
T |
A |
6: 107,544,820 (GRCm39) |
I206N |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,850,143 (GRCm39) |
L802H |
probably damaging |
Het |
| Meaf6 |
T |
C |
4: 125,001,450 (GRCm39) |
|
probably benign |
Het |
| Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
| Mis18bp1 |
G |
A |
12: 65,180,616 (GRCm39) |
S955L |
probably benign |
Het |
| Mocs1 |
T |
A |
17: 49,756,819 (GRCm39) |
M267K |
probably damaging |
Het |
| Mroh3 |
T |
A |
1: 136,128,110 (GRCm39) |
Y263F |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,198,878 (GRCm39) |
|
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,210,492 (GRCm39) |
Y532C |
probably damaging |
Het |
| Or51b6 |
A |
G |
7: 103,556,165 (GRCm39) |
H170R |
|
Het |
| Or6c205 |
A |
T |
10: 129,086,669 (GRCm39) |
T89S |
possibly damaging |
Het |
| Ost4 |
A |
G |
5: 31,064,866 (GRCm39) |
V5A |
possibly damaging |
Het |
| P2rx1 |
T |
A |
11: 72,900,059 (GRCm39) |
C159S |
probably damaging |
Het |
| Paqr8 |
T |
C |
1: 21,005,614 (GRCm39) |
L256P |
possibly damaging |
Het |
| Pgls |
T |
A |
8: 72,048,689 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
T |
C |
19: 44,140,864 (GRCm39) |
E566G |
possibly damaging |
Het |
| Plau |
A |
T |
14: 20,889,613 (GRCm39) |
H226L |
probably damaging |
Het |
| Rps18-ps5 |
A |
G |
13: 28,441,872 (GRCm39) |
N85S |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,675 (GRCm39) |
S174P |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,445,185 (GRCm39) |
D2410E |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,227 (GRCm39) |
M113K |
probably benign |
Het |
| Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
| Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
| Sqor |
T |
A |
2: 122,649,876 (GRCm39) |
Y373* |
probably null |
Het |
| Stra6l |
T |
A |
4: 45,864,910 (GRCm39) |
S79T |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,915 (GRCm39) |
I1573M |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,146,224 (GRCm39) |
D1674G |
possibly damaging |
Het |
| Tex26 |
C |
A |
5: 149,376,884 (GRCm39) |
T91N |
probably damaging |
Het |
| Tigd2 |
T |
G |
6: 59,187,887 (GRCm39) |
S251R |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trmt10c |
A |
G |
16: 55,855,542 (GRCm39) |
V31A |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,569,625 (GRCm39) |
S668P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,326,724 (GRCm39) |
D162E |
probably damaging |
Het |
| Vmn1r125 |
G |
C |
7: 21,006,503 (GRCm39) |
V134L |
probably benign |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,449 (GRCm39) |
F297I |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,845,006 (GRCm39) |
D2030G |
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 |
|
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 |
|
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'- CTGTGGGGTATCTCATGGCAAC -3'
(R):5'- TGGCTCTGCAAACGTTAGGG -3'
Sequencing Primer
(F):5'- GCCATCAATCAGCTCCTGG -3'
(R):5'- TTAGGGAACGTGAATCGAGACCTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation