Incidental Mutation 'R5024:Thoc2l'
ID |
391216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc2l
|
Ensembl Gene |
ENSMUSG00000079065 |
Gene Name |
THO complex subunit 2-like |
Synonyms |
Gm3179, BC005561 |
MMRRC Submission |
042615-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R5024 (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 104670124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1549
(K1549E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096452]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096452
AA Change: K1549E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130629 Gene: ENSMUSG00000079065 AA Change: K1549E
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 |
0.0756 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
99% (95/96) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
A |
G |
5: 129,248,959 (GRCm39) |
N575S |
probably damaging |
Het |
Akap6 |
C |
T |
12: 53,189,345 (GRCm39) |
T2253M |
probably benign |
Het |
Arhgef37 |
A |
C |
18: 61,639,511 (GRCm39) |
N289K |
probably damaging |
Het |
Atad2b |
A |
C |
12: 4,987,534 (GRCm39) |
T121P |
probably benign |
Het |
Atp4a |
A |
C |
7: 30,415,289 (GRCm39) |
D303A |
possibly damaging |
Het |
Calu |
A |
T |
6: 29,374,518 (GRCm39) |
|
probably benign |
Het |
Ccdc141 |
A |
C |
2: 76,885,047 (GRCm39) |
N531K |
probably benign |
Het |
Ccdc146 |
T |
C |
5: 21,604,612 (GRCm39) |
|
probably null |
Het |
Cd207 |
G |
A |
6: 83,651,301 (GRCm39) |
T218I |
probably damaging |
Het |
Cd2ap |
A |
C |
17: 43,116,236 (GRCm39) |
|
probably null |
Het |
Ceacam23 |
A |
G |
7: 17,644,607 (GRCm39) |
I575V |
probably benign |
Het |
Clip3 |
G |
A |
7: 29,991,644 (GRCm39) |
|
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,751 (GRCm39) |
R432H |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,215,141 (GRCm39) |
Y521C |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,955,070 (GRCm39) |
E2033V |
probably damaging |
Het |
Eng |
T |
G |
2: 32,563,404 (GRCm39) |
V319G |
probably benign |
Het |
Erp44 |
C |
T |
4: 48,241,296 (GRCm39) |
W57* |
probably null |
Het |
Etv1 |
T |
A |
12: 38,904,233 (GRCm39) |
|
probably null |
Het |
Eva1c |
T |
C |
16: 90,673,081 (GRCm39) |
|
probably null |
Het |
Fam221b |
T |
A |
4: 43,659,674 (GRCm39) |
N482I |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,876,991 (GRCm39) |
H202R |
probably damaging |
Het |
Fbxw13 |
T |
C |
9: 109,008,403 (GRCm39) |
T449A |
probably benign |
Het |
Fbxw25 |
A |
T |
9: 109,492,442 (GRCm39) |
|
probably null |
Het |
Frmd3 |
T |
A |
4: 74,016,381 (GRCm39) |
S99T |
probably benign |
Het |
Gm5174 |
G |
T |
10: 86,492,451 (GRCm39) |
|
noncoding transcript |
Het |
Gm815 |
C |
T |
19: 26,865,175 (GRCm39) |
Q49* |
probably null |
Het |
H2-DMa |
A |
T |
17: 34,357,461 (GRCm39) |
I245F |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
Hirip3 |
A |
G |
7: 126,463,661 (GRCm39) |
|
probably null |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,556,439 (GRCm39) |
E2449V |
possibly damaging |
Het |
Igll1 |
G |
T |
16: 16,681,657 (GRCm39) |
H33N |
probably benign |
Het |
Il6 |
T |
C |
5: 30,224,512 (GRCm39) |
L184P |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,080,463 (GRCm39) |
S756T |
probably damaging |
Het |
Insyn2a |
A |
G |
7: 134,520,207 (GRCm39) |
S108P |
probably damaging |
Het |
Kank4 |
T |
G |
4: 98,673,898 (GRCm39) |
D5A |
probably damaging |
Het |
Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
Kcns2 |
A |
T |
15: 34,839,683 (GRCm39) |
T349S |
probably benign |
Het |
Keap1 |
A |
G |
9: 21,148,522 (GRCm39) |
Y162H |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,312,161 (GRCm39) |
F10L |
possibly damaging |
Het |
Klhdc8b |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
9: 108,326,184 (GRCm39) |
|
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,809 (GRCm39) |
T257A |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,604,007 (GRCm39) |
L608Q |
probably benign |
Het |
Lyst |
T |
C |
13: 13,808,989 (GRCm39) |
S220P |
probably benign |
Het |
M1ap |
A |
G |
6: 83,005,339 (GRCm39) |
|
probably benign |
Het |
Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,849,105 (GRCm39) |
T1115S |
possibly damaging |
Het |
Mysm1 |
C |
A |
4: 94,839,253 (GRCm39) |
V683F |
possibly damaging |
Het |
Nlrp4g |
T |
A |
9: 124,350,155 (GRCm38) |
|
noncoding transcript |
Het |
Odad2 |
T |
C |
18: 7,088,555 (GRCm39) |
M1005V |
probably benign |
Het |
Or14c39 |
A |
T |
7: 86,344,089 (GRCm39) |
M142L |
probably benign |
Het |
Or2ak5 |
T |
A |
11: 58,611,776 (GRCm39) |
I33F |
probably benign |
Het |
Or5al6 |
G |
T |
2: 85,976,877 (GRCm39) |
A67E |
probably damaging |
Het |
Or8j3c |
C |
T |
2: 86,253,805 (GRCm39) |
G72S |
possibly damaging |
Het |
Otud6b |
T |
A |
4: 14,826,293 (GRCm39) |
Q34L |
probably damaging |
Het |
Parp11 |
C |
T |
6: 127,448,599 (GRCm39) |
T72I |
probably damaging |
Het |
Pbx1 |
T |
A |
1: 168,011,158 (GRCm39) |
D343V |
possibly damaging |
Het |
Phf11 |
T |
C |
14: 59,495,932 (GRCm39) |
|
probably null |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Pramel15 |
C |
A |
4: 144,099,878 (GRCm39) |
E296* |
probably null |
Het |
Ranbp9 |
A |
T |
13: 43,588,331 (GRCm39) |
I67N |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,847,832 (GRCm39) |
E414G |
probably damaging |
Het |
Rbbp5 |
A |
G |
1: 132,418,226 (GRCm39) |
H15R |
possibly damaging |
Het |
Scd2 |
A |
G |
19: 44,289,710 (GRCm39) |
Y235C |
probably benign |
Het |
Sdr16c5 |
C |
T |
4: 4,010,365 (GRCm39) |
G170S |
probably damaging |
Het |
Sh3bp4 |
G |
T |
1: 89,073,317 (GRCm39) |
G722C |
probably damaging |
Het |
Shmt1 |
A |
T |
11: 60,688,305 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
A |
G |
2: 125,008,057 (GRCm39) |
I206V |
probably benign |
Het |
Slc26a3 |
A |
G |
12: 31,503,907 (GRCm39) |
D304G |
probably benign |
Het |
Slc26a7 |
T |
A |
4: 14,532,572 (GRCm39) |
D434V |
possibly damaging |
Het |
Slc6a16 |
G |
T |
7: 44,909,390 (GRCm39) |
M185I |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,121,729 (GRCm39) |
I363V |
possibly damaging |
Het |
Tgfb1i1 |
G |
T |
7: 127,847,389 (GRCm39) |
M1I |
probably null |
Het |
Tmem225 |
T |
C |
9: 40,060,639 (GRCm39) |
V66A |
probably benign |
Het |
Tmtc4 |
T |
C |
14: 123,178,714 (GRCm39) |
|
probably null |
Het |
Trpc4 |
T |
A |
3: 54,102,217 (GRCm39) |
N38K |
probably benign |
Het |
Ttll12 |
A |
T |
15: 83,471,314 (GRCm39) |
Y218N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,778,769 (GRCm39) |
|
probably null |
Het |
Tulp1 |
A |
C |
17: 28,570,969 (GRCm39) |
Y178* |
probably null |
Het |
Vmn2r58 |
A |
G |
7: 41,513,746 (GRCm39) |
V299A |
probably damaging |
Het |
Washc4 |
C |
A |
10: 83,419,200 (GRCm39) |
Q911K |
possibly damaging |
Het |
Wdr3 |
T |
C |
3: 100,062,252 (GRCm39) |
D221G |
probably benign |
Het |
Zan |
A |
T |
5: 137,460,155 (GRCm39) |
C1245* |
probably null |
Het |
Zfyve9 |
A |
C |
4: 108,548,866 (GRCm39) |
S773A |
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 |
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'- GAGAGGCACCCTTGGACTTAATC -3'
(R):5'- ACTGTTTAGAGAGTGACACCAAG -3'
Sequencing Primer
(F):5'- CCCTTGGACTTAATCAAGAGGCG -3'
(R):5'- AAGAGCTCTGGCATCCTCAG -3'
|
Posted On |
2016-06-06 |