Incidental Mutation 'R4697:Thoc2l'
| ID |
355762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc2l
|
| Ensembl Gene |
ENSMUSG00000079065 |
| Gene Name |
THO complex subunit 2-like |
| Synonyms |
Gm3179, BC005561 |
| MMRRC Submission |
041947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.933)
|
| Stock # |
R4697 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104670106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1543
(K1543E)
|
| 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: K1543E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: K1543E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200034
|
| Meta Mutation Damage Score |
0.0912 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (75/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,615,243 (GRCm39) |
M1T |
probably null |
Het |
| Aatf |
T |
A |
11: 84,339,964 (GRCm39) |
D449V |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,549,509 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
T |
A |
10: 70,789,314 (GRCm39) |
I366F |
possibly damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,467,613 (GRCm39) |
S184P |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,502,446 (GRCm39) |
V401A |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 122,011,816 (GRCm39) |
T540A |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,622,165 (GRCm39) |
E966* |
probably null |
Het |
| Dpp7 |
A |
G |
2: 25,244,931 (GRCm39) |
Y209H |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,377,225 (GRCm39) |
F277Y |
probably damaging |
Het |
| Dtx1 |
A |
T |
5: 120,832,473 (GRCm39) |
|
probably null |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Ednra |
T |
C |
8: 78,391,624 (GRCm39) |
H422R |
probably benign |
Het |
| Erlec1 |
T |
A |
11: 30,902,640 (GRCm39) |
I67F |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,395,332 (GRCm39) |
|
probably benign |
Het |
| Gata5 |
A |
T |
2: 179,969,172 (GRCm39) |
C345* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,235,581 (GRCm39) |
V47A |
probably damaging |
Het |
| Gm9762 |
T |
A |
3: 78,873,857 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
A |
T |
2: 174,139,873 (GRCm39) |
D14V |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 30,739,286 (GRCm39) |
S53G |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,275,777 (GRCm39) |
V527M |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,524,531 (GRCm39) |
L281* |
probably null |
Het |
| Kif16b |
T |
G |
2: 142,532,614 (GRCm39) |
Y1175S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,467,672 (GRCm39) |
S204P |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,607,800 (GRCm39) |
I320N |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,846,212 (GRCm39) |
R693Q |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,152 (GRCm39) |
K62E |
possibly damaging |
Het |
| Mlc1 |
A |
G |
15: 88,858,980 (GRCm39) |
C102R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,098 (GRCm39) |
I1348T |
unknown |
Het |
| Myh7b |
A |
G |
2: 155,471,242 (GRCm39) |
E1130G |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,878,368 (GRCm39) |
T52A |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,231,821 (GRCm39) |
V379L |
probably benign |
Het |
| Or10ad1c |
G |
A |
15: 98,084,749 (GRCm39) |
R310W |
probably damaging |
Het |
| Or4c1 |
C |
A |
2: 89,133,246 (GRCm39) |
S230I |
possibly damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,247 (GRCm39) |
S230C |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,081 (GRCm39) |
D189E |
probably benign |
Het |
| Or5b12 |
C |
T |
19: 12,897,298 (GRCm39) |
C125Y |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,850,261 (GRCm39) |
Y756F |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,608,989 (GRCm39) |
Y284N |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,114,786 (GRCm39) |
V1367A |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,282,492 (GRCm39) |
N484K |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 79,268,600 (GRCm39) |
V572I |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,617,528 (GRCm39) |
S1005G |
probably benign |
Het |
| Radil |
G |
T |
5: 142,472,556 (GRCm39) |
D951E |
probably benign |
Het |
| Ripk1 |
C |
T |
13: 34,211,925 (GRCm39) |
R352* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,450,196 (GRCm39) |
F4081L |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,199,288 (GRCm39) |
V11A |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,791,784 (GRCm39) |
F536I |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,722,741 (GRCm39) |
L381P |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,029,625 (GRCm39) |
P71L |
probably benign |
Het |
| Spns1 |
T |
A |
7: 125,976,209 (GRCm39) |
D14V |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,122,526 (GRCm39) |
I417F |
possibly damaging |
Het |
| Tas2r113 |
T |
A |
6: 132,870,479 (GRCm39) |
M169K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,943,138 (GRCm39) |
N567K |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
| Tspan18 |
A |
T |
2: 93,142,375 (GRCm39) |
|
probably null |
Het |
| Txndc11 |
C |
T |
16: 10,902,178 (GRCm39) |
V679I |
probably damaging |
Het |
| Usf1 |
G |
T |
1: 171,244,532 (GRCm39) |
G144V |
possibly damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,451 (GRCm39) |
Y103C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,785 (GRCm39) |
I713F |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,687,168 (GRCm39) |
I850F |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,390,671 (GRCm39) |
I455N |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 26,074,337 (GRCm39) |
R676H |
probably benign |
Het |
| Zfp867 |
G |
A |
11: 59,354,487 (GRCm39) |
R281W |
probably damaging |
Het |
| Zfp939 |
T |
C |
7: 39,122,366 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
R6169:Thoc2l
|
UTSW |
5 |
104,666,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TTTGGACAAGTCAAGGGAAAGATCC -3'
(R):5'- CCCACACTTTTGGCTGAGTC -3'
Sequencing Primer
(F):5'- AGATTATTCAAACAATGACCGAGAG -3'
(R):5'- GCTGAGTCTTCATTATCTGTGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation