Incidental Mutation 'R6169:Thoc2l'
| ID |
490304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc2l
|
| Ensembl Gene |
ENSMUSG00000079065 |
| Gene Name |
THO complex subunit 2-like |
| Synonyms |
Gm3179, BC005561 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R6169 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104666262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 261
(N261K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096452]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096452
AA Change: N261K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: N261K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THOC2_N
|
10 |
424 |
3.5e-65 |
PFAM |
|
Pfam:THOC2_N
|
415 |
566 |
5.8e-32 |
PFAM |
|
Pfam:Thoc2
|
568 |
643 |
8.3e-40 |
PFAM |
|
low complexity region
|
729 |
747 |
N/A |
INTRINSIC |
|
Pfam:Tho2
|
873 |
1173 |
1.1e-105 |
PFAM |
|
low complexity region
|
1251 |
1262 |
N/A |
INTRINSIC |
|
low complexity region
|
1266 |
1283 |
N/A |
INTRINSIC |
|
coiled coil region
|
1310 |
1335 |
N/A |
INTRINSIC |
|
low complexity region
|
1355 |
1366 |
N/A |
INTRINSIC |
|
low complexity region
|
1459 |
1482 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1543 |
N/A |
INTRINSIC |
|
low complexity region
|
1561 |
1569 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
94% (67/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
C |
A |
11: 3,888,005 (GRCm39) |
C127F |
unknown |
Het |
| 9930111J21Rik2 |
A |
T |
11: 48,910,088 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,918,393 (GRCm39) |
L676* |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,567,378 (GRCm39) |
V5265E |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,189,141 (GRCm39) |
M2185K |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,509,988 (GRCm39) |
V793A |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,266,558 (GRCm39) |
N535K |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
| Bbof1 |
C |
T |
12: 84,473,588 (GRCm39) |
T306I |
probably benign |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Ccdc60 |
C |
A |
5: 116,275,131 (GRCm39) |
A351S |
probably benign |
Het |
| Cetn3 |
A |
C |
13: 81,940,097 (GRCm39) |
R44S |
probably damaging |
Het |
| Cluap1 |
A |
G |
16: 3,746,425 (GRCm39) |
K262R |
possibly damaging |
Het |
| Cnrip1 |
G |
A |
11: 17,004,731 (GRCm39) |
V94I |
probably null |
Het |
| Cog6 |
A |
T |
3: 52,914,722 (GRCm39) |
S245T |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,622,031 (GRCm39) |
V921D |
probably damaging |
Het |
| Entrep2 |
G |
A |
7: 64,409,147 (GRCm39) |
P416S |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,889,863 (GRCm39) |
K504E |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,177,409 (GRCm39) |
|
probably null |
Het |
| Fyb2 |
T |
C |
4: 104,857,713 (GRCm39) |
V630A |
probably benign |
Het |
| Gm43218 |
T |
A |
6: 70,217,606 (GRCm39) |
Y50F |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,779,402 (GRCm39) |
T507A |
probably benign |
Het |
| Gucy2e |
G |
T |
11: 69,126,930 (GRCm39) |
A181E |
probably benign |
Het |
| Hrnr |
C |
G |
3: 93,233,062 (GRCm39) |
S1100* |
probably null |
Het |
| Htt |
T |
C |
5: 35,064,817 (GRCm39) |
V3010A |
probably damaging |
Het |
| Ighv1-11 |
T |
C |
12: 114,575,918 (GRCm39) |
Y99C |
probably damaging |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,577 (GRCm39) |
K25E |
possibly damaging |
Het |
| Il6ra |
A |
G |
3: 89,778,598 (GRCm39) |
F417S |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,885,102 (GRCm39) |
S994P |
probably damaging |
Het |
| Itgbl1 |
G |
A |
14: 123,897,790 (GRCm39) |
A24T |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,346,077 (GRCm39) |
F127L |
probably damaging |
Het |
| Itprid2 |
T |
G |
2: 79,475,406 (GRCm39) |
I455R |
probably damaging |
Het |
| Krt86 |
A |
G |
15: 101,374,170 (GRCm39) |
Y243C |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,838,230 (GRCm39) |
W11R |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
| Mettl3 |
A |
G |
14: 52,536,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Mllt1 |
T |
C |
17: 57,206,822 (GRCm39) |
T341A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,891,325 (GRCm39) |
E7069G |
unknown |
Het |
| Or1e27-ps1 |
A |
T |
11: 73,556,160 (GRCm39) |
T242S |
possibly damaging |
Het |
| Or52b4 |
T |
C |
7: 102,184,479 (GRCm39) |
I175T |
probably benign |
Het |
| Osgep |
A |
G |
14: 51,157,209 (GRCm39) |
V11A |
possibly damaging |
Het |
| Oxld1 |
G |
A |
11: 120,347,675 (GRCm39) |
A174V |
possibly damaging |
Het |
| Pibf1 |
A |
T |
14: 99,350,443 (GRCm39) |
E197V |
probably null |
Het |
| Pkn1 |
G |
A |
8: 84,407,835 (GRCm39) |
Q425* |
probably null |
Het |
| Pramel22 |
T |
C |
4: 143,380,685 (GRCm39) |
Y446C |
probably benign |
Het |
| Prss35 |
T |
C |
9: 86,637,491 (GRCm39) |
I87T |
probably benign |
Het |
| Psmc3 |
T |
C |
2: 90,888,184 (GRCm39) |
F304S |
probably damaging |
Het |
| Psmd11 |
T |
A |
11: 80,351,539 (GRCm39) |
M254K |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,292,385 (GRCm39) |
Y218C |
probably damaging |
Het |
| Sec23b |
C |
T |
2: 144,428,894 (GRCm39) |
R701C |
probably damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,848,913 (GRCm39) |
S280P |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,405,044 (GRCm39) |
I212T |
possibly damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,562,388 (GRCm39) |
V255A |
probably damaging |
Het |
| Smc3 |
T |
A |
19: 53,622,517 (GRCm39) |
N697K |
probably benign |
Het |
| Snai1 |
C |
A |
2: 167,380,831 (GRCm39) |
P108Q |
probably benign |
Het |
| Stim2 |
T |
G |
5: 54,276,021 (GRCm39) |
L732R |
probably damaging |
Het |
| Syde1 |
A |
G |
10: 78,421,938 (GRCm39) |
L597S |
probably damaging |
Het |
| Tcte1 |
T |
A |
17: 45,845,996 (GRCm39) |
M200K |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 36,030,517 (GRCm39) |
T761S |
probably damaging |
Het |
| Tlr2 |
C |
A |
3: 83,745,455 (GRCm39) |
E209D |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,022,739 (GRCm39) |
L33P |
probably damaging |
Het |
| Trmt1l |
C |
A |
1: 151,304,704 (GRCm39) |
|
probably benign |
Het |
| Unc45a |
A |
C |
7: 79,978,511 (GRCm39) |
S646A |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,534,910 (GRCm39) |
I12N |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,104,382 (GRCm39) |
V335A |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,311,878 (GRCm39) |
S762T |
unknown |
Het |
| Yeats2 |
A |
G |
16: 20,038,417 (GRCm39) |
K129E |
probably damaging |
Het |
| Zscan4-ps2 |
T |
C |
7: 11,251,558 (GRCm39) |
V198A |
probably benign |
Het |
|
| Other mutations in Thoc2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Thoc2l
|
APN |
5 |
104,668,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01024:Thoc2l
|
APN |
5 |
104,669,612 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01133:Thoc2l
|
APN |
5 |
104,665,528 (GRCm39) |
missense |
probably benign |
|
|
IGL01564:Thoc2l
|
APN |
5 |
104,668,529 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01727:Thoc2l
|
APN |
5 |
104,667,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02086:Thoc2l
|
APN |
5 |
104,666,867 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02153:Thoc2l
|
APN |
5 |
104,668,949 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02256:Thoc2l
|
APN |
5 |
104,668,149 (GRCm39) |
nonsense |
probably null |
|
|
IGL02436:Thoc2l
|
APN |
5 |
104,669,021 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02969:Thoc2l
|
APN |
5 |
104,667,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03275:Thoc2l
|
APN |
5 |
104,666,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03357:Thoc2l
|
APN |
5 |
104,668,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Magnetar
|
UTSW |
5 |
104,668,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F2404:Thoc2l
|
UTSW |
5 |
104,668,096 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0318:Thoc2l
|
UTSW |
5 |
104,665,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0349:Thoc2l
|
UTSW |
5 |
104,667,842 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0454:Thoc2l
|
UTSW |
5 |
104,666,077 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0742:Thoc2l
|
UTSW |
5 |
104,670,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0842:Thoc2l
|
UTSW |
5 |
104,667,066 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0882:Thoc2l
|
UTSW |
5 |
104,666,875 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1123:Thoc2l
|
UTSW |
5 |
104,666,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Thoc2l
|
UTSW |
5 |
104,668,769 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1205:Thoc2l
|
UTSW |
5 |
104,668,079 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1261:Thoc2l
|
UTSW |
5 |
104,668,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1432:Thoc2l
|
UTSW |
5 |
104,665,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Thoc2l
|
UTSW |
5 |
104,670,070 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1466:Thoc2l
|
UTSW |
5 |
104,666,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Thoc2l
|
UTSW |
5 |
104,666,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1584:Thoc2l
|
UTSW |
5 |
104,666,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1636:Thoc2l
|
UTSW |
5 |
104,668,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1686:Thoc2l
|
UTSW |
5 |
104,667,789 (GRCm39) |
nonsense |
probably null |
|
|
R1698:Thoc2l
|
UTSW |
5 |
104,668,376 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1816:Thoc2l
|
UTSW |
5 |
104,665,700 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1903:Thoc2l
|
UTSW |
5 |
104,666,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2096:Thoc2l
|
UTSW |
5 |
104,667,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2146:Thoc2l
|
UTSW |
5 |
104,666,857 (GRCm39) |
missense |
probably benign |
|
|
R2226:Thoc2l
|
UTSW |
5 |
104,667,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2227:Thoc2l
|
UTSW |
5 |
104,667,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2383:Thoc2l
|
UTSW |
5 |
104,666,854 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2656:Thoc2l
|
UTSW |
5 |
104,667,181 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3982:Thoc2l
|
UTSW |
5 |
104,668,889 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3983:Thoc2l
|
UTSW |
5 |
104,668,889 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4115:Thoc2l
|
UTSW |
5 |
104,667,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4345:Thoc2l
|
UTSW |
5 |
104,669,315 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4697:Thoc2l
|
UTSW |
5 |
104,670,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4711:Thoc2l
|
UTSW |
5 |
104,667,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4742:Thoc2l
|
UTSW |
5 |
104,666,723 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4758:Thoc2l
|
UTSW |
5 |
104,668,265 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4863:Thoc2l
|
UTSW |
5 |
104,665,616 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4867:Thoc2l
|
UTSW |
5 |
104,668,868 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5024:Thoc2l
|
UTSW |
5 |
104,670,124 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5114:Thoc2l
|
UTSW |
5 |
104,667,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5117:Thoc2l
|
UTSW |
5 |
104,668,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Thoc2l
|
UTSW |
5 |
104,667,523 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5341:Thoc2l
|
UTSW |
5 |
104,665,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Thoc2l
|
UTSW |
5 |
104,666,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5421:Thoc2l
|
UTSW |
5 |
104,666,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5422:Thoc2l
|
UTSW |
5 |
104,667,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5606:Thoc2l
|
UTSW |
5 |
104,669,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5939:Thoc2l
|
UTSW |
5 |
104,667,073 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6104:Thoc2l
|
UTSW |
5 |
104,666,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Thoc2l
|
UTSW |
5 |
104,667,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6352:Thoc2l
|
UTSW |
5 |
104,668,064 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6408:Thoc2l
|
UTSW |
5 |
104,666,643 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6458:Thoc2l
|
UTSW |
5 |
104,670,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6722:Thoc2l
|
UTSW |
5 |
104,668,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6789:Thoc2l
|
UTSW |
5 |
104,665,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Thoc2l
|
UTSW |
5 |
104,670,229 (GRCm39) |
missense |
probably benign |
|
|
R7494:Thoc2l
|
UTSW |
5 |
104,666,284 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7733:Thoc2l
|
UTSW |
5 |
104,667,826 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7884:Thoc2l
|
UTSW |
5 |
104,669,212 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7945:Thoc2l
|
UTSW |
5 |
104,666,413 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8112:Thoc2l
|
UTSW |
5 |
104,669,501 (GRCm39) |
missense |
probably benign |
|
|
R8131:Thoc2l
|
UTSW |
5 |
104,669,027 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8418:Thoc2l
|
UTSW |
5 |
104,667,724 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8963:Thoc2l
|
UTSW |
5 |
104,665,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9051:Thoc2l
|
UTSW |
5 |
104,666,818 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9169:Thoc2l
|
UTSW |
5 |
104,666,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Thoc2l
|
UTSW |
5 |
104,667,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9358:Thoc2l
|
UTSW |
5 |
104,667,826 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9451:Thoc2l
|
UTSW |
5 |
104,668,644 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9452:Thoc2l
|
UTSW |
5 |
104,669,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9567:Thoc2l
|
UTSW |
5 |
104,669,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9760:Thoc2l
|
UTSW |
5 |
104,667,101 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Thoc2l
|
UTSW |
5 |
104,668,058 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGGGTGCTTTAATCTAGATCCC -3'
(R):5'- GGTTGTCAGGTGCCTTCTCTAC -3'
Sequencing Primer
(F):5'- GGGTGCTTTAATCTAGATCCCAATAG -3'
(R):5'- TTCGGAAGGCAATACAACCATTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation