Incidental Mutation 'R2379:Tnks1bp1'
| ID |
248368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks1bp1
|
| Ensembl Gene |
ENSMUSG00000033955 |
| Gene Name |
tankyrase 1 binding protein 1 |
| Synonyms |
TAB182 |
| MMRRC Submission |
040355-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84894182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1370
(S1370G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048400]
[ENSMUST00000111605]
|
| AlphaFold |
P58871 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048400
AA Change: S708G
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: S708G
| 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: S1370G
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: S1370G
| 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: ENSMUST00000151092
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
93% (37/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
C |
11: 53,299,305 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
C |
7: 79,490,966 (GRCm39) |
T209A |
probably benign |
Het |
| Asb16 |
A |
G |
11: 102,163,357 (GRCm39) |
T116A |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,696,275 (GRCm39) |
Q1140K |
probably benign |
Het |
| Btc |
A |
T |
5: 91,524,768 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,954,717 (GRCm39) |
D860G |
possibly damaging |
Het |
| Cd177 |
G |
A |
7: 24,457,468 (GRCm39) |
T191I |
possibly damaging |
Het |
| Cngb1 |
A |
G |
8: 95,986,758 (GRCm39) |
L378P |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,490,122 (GRCm39) |
F1697S |
probably damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,138 (GRCm39) |
S1446N |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,688,443 (GRCm39) |
K154* |
probably null |
Het |
| Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
| Ifi204 |
T |
A |
1: 173,583,559 (GRCm39) |
R220* |
probably null |
Het |
| Limk1 |
A |
G |
5: 134,708,335 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,496,929 (GRCm39) |
S8T |
possibly damaging |
Het |
| Mpp7 |
T |
A |
18: 7,403,345 (GRCm39) |
R322* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,412,386 (GRCm39) |
N2529S |
probably benign |
Het |
| Npr3 |
A |
G |
15: 11,883,449 (GRCm39) |
F327L |
probably damaging |
Het |
| Or12j3 |
A |
T |
7: 139,952,748 (GRCm39) |
Y258* |
probably null |
Het |
| Or14c41 |
T |
G |
7: 86,235,400 (GRCm39) |
F306V |
probably benign |
Het |
| Or14c46 |
T |
C |
7: 85,918,857 (GRCm39) |
T47A |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,052 (GRCm39) |
H107L |
probably benign |
Het |
| Or5p1 |
T |
C |
7: 107,916,499 (GRCm39) |
S133P |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,737,781 (GRCm39) |
V266E |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,211,963 (GRCm39) |
S157P |
possibly damaging |
Het |
| Pld2 |
A |
T |
11: 70,445,140 (GRCm39) |
Y580F |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,879,682 (GRCm39) |
D990V |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,066,707 (GRCm39) |
E162G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,244,238 (GRCm39) |
T266A |
unknown |
Het |
| Usp28 |
A |
G |
9: 48,914,395 (GRCm39) |
R99G |
probably null |
Het |
| Vmn2r13 |
T |
G |
5: 109,319,644 (GRCm39) |
E445D |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,342 (GRCm39) |
I205T |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTGGGGTGACGATCTAGG -3'
(R):5'- CAAGATGGAGAACCGTACCTG -3'
Sequencing Primer
(F):5'- ACGATCTAGGCCTGAGGAATTTG -3'
(R):5'- AGAACCGTACCTGGCTCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation