Incidental Mutation 'R0349:Thoc2l'
ID |
36066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc2l
|
Ensembl Gene |
ENSMUSG00000079065 |
Gene Name |
THO complex subunit 2-like |
Synonyms |
Gm3179, BC005561 |
MMRRC Submission |
038556-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.933)
|
Stock # |
R0349 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104667842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 788
(L788P)
|
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: L788P
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130629 Gene: ENSMUSG00000079065 AA Change: L788P
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: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
T |
19: 31,910,062 (GRCm39) |
S285C |
possibly damaging |
Het |
Abcc9 |
A |
T |
6: 142,610,351 (GRCm39) |
N604K |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adgrl3 |
A |
G |
5: 81,919,491 (GRCm39) |
T1192A |
probably damaging |
Het |
Aldh1l2 |
A |
T |
10: 83,326,478 (GRCm39) |
Y800N |
probably damaging |
Het |
Ano3 |
A |
T |
2: 110,491,832 (GRCm39) |
V865D |
probably damaging |
Het |
App |
A |
T |
16: 84,810,568 (GRCm39) |
L545Q |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,453,215 (GRCm39) |
D798G |
probably damaging |
Het |
B3galnt2 |
T |
C |
13: 14,166,059 (GRCm39) |
V318A |
probably benign |
Het |
Clcn3 |
T |
A |
8: 61,394,382 (GRCm39) |
D49V |
possibly damaging |
Het |
Clcn6 |
T |
A |
4: 148,108,651 (GRCm39) |
K126M |
possibly damaging |
Het |
Cntln |
T |
A |
4: 84,914,722 (GRCm39) |
S510T |
probably damaging |
Het |
Csk |
A |
C |
9: 57,535,477 (GRCm39) |
C290W |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,012,349 (GRCm39) |
M1502K |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,607,218 (GRCm39) |
N81I |
possibly damaging |
Het |
Dpyd |
T |
A |
3: 118,710,748 (GRCm39) |
C385* |
probably null |
Het |
Dst |
G |
A |
1: 34,238,634 (GRCm39) |
V1765I |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,071,447 (GRCm39) |
S459G |
probably benign |
Het |
Fam83d |
A |
G |
2: 158,621,768 (GRCm39) |
I160V |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,942,476 (GRCm39) |
F1299L |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,196,141 (GRCm39) |
I614V |
unknown |
Het |
Fsd1l |
T |
A |
4: 53,679,854 (GRCm39) |
V184E |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,626,727 (GRCm39) |
V1328A |
probably damaging |
Het |
Ganab |
T |
A |
19: 8,889,016 (GRCm39) |
N572K |
probably null |
Het |
Gbp10 |
T |
A |
5: 105,368,942 (GRCm39) |
D299V |
possibly damaging |
Het |
Gpr83 |
T |
G |
9: 14,779,563 (GRCm39) |
L205R |
probably damaging |
Het |
Hapln2 |
G |
A |
3: 87,930,936 (GRCm39) |
P152S |
probably damaging |
Het |
Htatip2 |
T |
C |
7: 49,423,140 (GRCm39) |
Y232H |
probably benign |
Het |
Itga2b |
C |
T |
11: 102,358,252 (GRCm39) |
V158I |
probably damaging |
Het |
Kansl3 |
T |
C |
1: 36,390,864 (GRCm39) |
D390G |
probably damaging |
Het |
Kcnh2 |
T |
C |
5: 24,556,235 (GRCm39) |
D16G |
probably benign |
Het |
Kctd8 |
A |
T |
5: 69,498,353 (GRCm39) |
F98I |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,077,049 (GRCm39) |
E357V |
probably damaging |
Het |
Kmt5c |
C |
T |
7: 4,749,594 (GRCm39) |
R371C |
probably damaging |
Het |
Kndc1 |
T |
C |
7: 139,490,220 (GRCm39) |
F241L |
probably benign |
Het |
Lrba |
A |
G |
3: 86,447,312 (GRCm39) |
D2052G |
probably damaging |
Het |
Lsr |
T |
A |
7: 30,658,698 (GRCm39) |
I54F |
probably damaging |
Het |
Matk |
G |
T |
10: 81,094,328 (GRCm39) |
L28F |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,750,318 (GRCm39) |
L4429P |
probably damaging |
Het |
Med29 |
CCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGC |
7: 28,091,935 (GRCm39) |
|
probably benign |
Het |
Msln |
G |
T |
17: 25,969,250 (GRCm39) |
Q407K |
possibly damaging |
Het |
Msr1 |
C |
T |
8: 40,034,868 (GRCm39) |
G428R |
probably damaging |
Het |
Myof |
A |
G |
19: 37,899,417 (GRCm39) |
I1040T |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,954,171 (GRCm39) |
S794P |
probably benign |
Het |
Nfkbiz |
C |
T |
16: 55,639,354 (GRCm39) |
|
probably null |
Het |
Nr2c1 |
C |
T |
10: 94,031,044 (GRCm39) |
S535L |
probably damaging |
Het |
Opn3 |
A |
C |
1: 175,519,870 (GRCm39) |
L78R |
probably damaging |
Het |
Or11h4b |
G |
A |
14: 50,918,711 (GRCm39) |
R127C |
probably benign |
Het |
Or52n3 |
A |
T |
7: 104,530,199 (GRCm39) |
D95V |
possibly damaging |
Het |
Or5b12 |
A |
T |
19: 12,897,299 (GRCm39) |
C125S |
probably damaging |
Het |
Otulinl |
T |
A |
15: 27,664,876 (GRCm39) |
I27L |
probably benign |
Het |
Pcdhb9 |
A |
G |
18: 37,535,632 (GRCm39) |
N542S |
probably damaging |
Het |
Pdc |
T |
A |
1: 150,209,178 (GRCm39) |
N220K |
probably benign |
Het |
Pde6c |
A |
T |
19: 38,150,797 (GRCm39) |
N569Y |
probably damaging |
Het |
Pgm1 |
A |
T |
4: 99,820,814 (GRCm39) |
K219M |
probably damaging |
Het |
Pitpnb |
C |
T |
5: 111,494,992 (GRCm39) |
T99M |
possibly damaging |
Het |
Pou6f2 |
T |
A |
13: 18,326,589 (GRCm39) |
Q71L |
probably damaging |
Het |
Pramel24 |
T |
G |
4: 143,453,629 (GRCm39) |
W246G |
probably benign |
Het |
Prkd1 |
C |
A |
12: 50,413,139 (GRCm39) |
L677F |
probably damaging |
Het |
Ranbp17 |
T |
C |
11: 33,450,689 (GRCm39) |
I78V |
probably benign |
Het |
Rnft2 |
T |
A |
5: 118,339,450 (GRCm39) |
K362M |
possibly damaging |
Het |
Rprd1a |
T |
A |
18: 24,639,904 (GRCm39) |
E259V |
possibly damaging |
Het |
Scara3 |
A |
T |
14: 66,169,230 (GRCm39) |
I129N |
probably damaging |
Het |
Scgb1a1 |
A |
T |
19: 9,062,753 (GRCm39) |
|
probably null |
Het |
Sec16b |
A |
T |
1: 157,359,746 (GRCm39) |
|
probably null |
Het |
Slc18a1 |
A |
T |
8: 69,524,753 (GRCm39) |
M167K |
probably damaging |
Het |
Slc6a15 |
C |
T |
10: 103,254,086 (GRCm39) |
A674V |
probably benign |
Het |
Slc6a3 |
T |
C |
13: 73,715,676 (GRCm39) |
F437S |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Stag1 |
T |
A |
9: 100,658,837 (GRCm39) |
N141K |
probably damaging |
Het |
Sun2 |
T |
C |
15: 79,614,433 (GRCm39) |
E321G |
probably damaging |
Het |
Taar2 |
C |
A |
10: 23,817,327 (GRCm39) |
T289K |
possibly damaging |
Het |
Taar2 |
T |
C |
10: 23,817,407 (GRCm39) |
Y316H |
probably benign |
Het |
Tbcd |
T |
A |
11: 121,493,809 (GRCm39) |
|
probably null |
Het |
Tecr |
G |
A |
8: 84,298,904 (GRCm39) |
T106I |
probably damaging |
Het |
Tmem60 |
T |
G |
5: 21,091,628 (GRCm39) |
V131G |
probably benign |
Het |
Uimc1 |
A |
G |
13: 55,223,804 (GRCm39) |
V156A |
probably benign |
Het |
Usp28 |
G |
A |
9: 48,921,581 (GRCm39) |
W266* |
probably null |
Het |
Vmn2r17 |
T |
A |
5: 109,576,202 (GRCm39) |
S358T |
probably damaging |
Het |
Wwc2 |
T |
A |
8: 48,321,701 (GRCm39) |
Y471F |
unknown |
Het |
Ythdc1 |
C |
T |
5: 86,983,579 (GRCm39) |
R675C |
probably damaging |
Het |
Zfp30 |
T |
C |
7: 29,493,029 (GRCm39) |
S428P |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,008,768 (GRCm39) |
C245S |
probably benign |
Het |
Zscan30 |
T |
C |
18: 24,104,455 (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 |
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 |
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'- AATGGAGCAGCTTGAGGCTATGAC -3'
(R):5'- TCATGGACAGGAGCCATCACCATC -3'
Sequencing Primer
(F):5'- TCCTCTCAGAGATTAAAGGATGCAC -3'
(R):5'- GTACTTATGAACTTTATGTTGCTGC -3'
|
Posted On |
2013-05-09 |