Incidental Mutation 'R8112:Thoc2l'
ID |
630917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc2l
|
Ensembl Gene |
ENSMUSG00000079065 |
Gene Name |
THO complex subunit 2-like |
Synonyms |
Gm3179, BC005561 |
MMRRC Submission |
067541-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R8112 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104669501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 1341
(F1341S)
|
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: F1341S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130629 Gene: ENSMUSG00000079065 AA Change: F1341S
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: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,264,624 (GRCm39) |
V3002A |
probably benign |
Het |
Aifm3 |
T |
C |
16: 17,320,804 (GRCm39) |
V422A |
probably damaging |
Het |
Alx3 |
G |
T |
3: 107,512,300 (GRCm39) |
E313* |
probably null |
Het |
Arfgef3 |
A |
G |
10: 18,528,379 (GRCm39) |
V336A |
possibly damaging |
Het |
Art5 |
A |
T |
7: 101,747,218 (GRCm39) |
V187E |
probably benign |
Het |
Atxn1 |
A |
G |
13: 45,721,433 (GRCm39) |
V154A |
probably benign |
Het |
B3galt1 |
A |
G |
2: 67,948,702 (GRCm39) |
D139G |
probably damaging |
Het |
Cbx5 |
A |
G |
15: 103,108,171 (GRCm39) |
V158A |
probably benign |
Het |
Cdca7l |
T |
C |
12: 117,840,779 (GRCm39) |
|
probably null |
Het |
Cecr2 |
T |
C |
6: 120,739,175 (GRCm39) |
S1301P |
probably benign |
Het |
Chmp3 |
T |
A |
6: 71,538,012 (GRCm39) |
S80T |
probably benign |
Het |
Cyp2g1 |
T |
A |
7: 26,518,886 (GRCm39) |
D427E |
probably benign |
Het |
Depdc5 |
G |
A |
5: 33,126,050 (GRCm39) |
V1199I |
possibly damaging |
Het |
Efcab3 |
T |
C |
11: 104,841,026 (GRCm39) |
V3643A |
unknown |
Het |
Ehmt1 |
G |
T |
2: 24,753,396 (GRCm39) |
L335M |
probably damaging |
Het |
Elfn2 |
A |
G |
15: 78,557,635 (GRCm39) |
V304A |
probably damaging |
Het |
Emc1 |
C |
T |
4: 139,094,498 (GRCm39) |
R684W |
probably benign |
Het |
Eme2 |
A |
T |
17: 25,113,809 (GRCm39) |
V72E |
probably damaging |
Het |
Gen1 |
T |
A |
12: 11,304,374 (GRCm39) |
K230* |
probably null |
Het |
Gfap |
T |
A |
11: 102,787,928 (GRCm39) |
I6F |
probably benign |
Het |
Grid2 |
T |
C |
6: 63,885,891 (GRCm39) |
S96P |
probably damaging |
Het |
H2-M2 |
A |
G |
17: 37,794,383 (GRCm39) |
L13P |
unknown |
Het |
Hps4 |
T |
G |
5: 112,517,977 (GRCm39) |
C323W |
probably benign |
Het |
Ing3 |
A |
G |
6: 21,952,181 (GRCm39) |
K52E |
probably damaging |
Het |
Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
Krt4 |
T |
A |
15: 101,828,724 (GRCm39) |
N380I |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,441,715 (GRCm39) |
C174S |
probably damaging |
Het |
Lrrc8e |
T |
C |
8: 4,285,575 (GRCm39) |
I600T |
probably benign |
Het |
Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
Mindy1 |
T |
C |
3: 95,202,122 (GRCm39) |
L333P |
probably damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,097,682 (GRCm39) |
S77P |
probably damaging |
Het |
Mtus2 |
G |
T |
5: 148,013,713 (GRCm39) |
E169* |
probably null |
Het |
Muc5b |
A |
G |
7: 141,415,765 (GRCm39) |
T2904A |
possibly damaging |
Het |
Noxa1 |
C |
T |
2: 24,982,553 (GRCm39) |
|
probably null |
Het |
Ogfod3 |
G |
A |
11: 121,095,376 (GRCm39) |
R5W |
probably damaging |
Het |
Or4f59 |
T |
A |
2: 111,872,982 (GRCm39) |
I132F |
probably damaging |
Het |
Or7g35 |
T |
A |
9: 19,496,020 (GRCm39) |
F62L |
probably benign |
Het |
Or9i16 |
A |
G |
19: 13,864,753 (GRCm39) |
S274P |
probably damaging |
Het |
Pgm3 |
C |
A |
9: 86,446,828 (GRCm39) |
R230L |
probably benign |
Het |
Plpbp |
A |
G |
8: 27,536,069 (GRCm39) |
I121V |
unknown |
Het |
Prl8a9 |
T |
C |
13: 27,743,355 (GRCm39) |
D150G |
probably benign |
Het |
Psapl1 |
A |
G |
5: 36,362,919 (GRCm39) |
N504D |
probably benign |
Het |
Ptchd4 |
A |
C |
17: 42,814,066 (GRCm39) |
N656H |
probably benign |
Het |
Ptprs |
A |
T |
17: 56,741,532 (GRCm39) |
Y577* |
probably null |
Het |
Rasgef1c |
A |
G |
11: 49,858,228 (GRCm39) |
Y263C |
probably damaging |
Het |
Rinl |
A |
G |
7: 28,490,014 (GRCm39) |
|
probably null |
Het |
Scd4 |
T |
C |
19: 44,325,945 (GRCm39) |
F100L |
probably benign |
Het |
Scgb2b20 |
T |
G |
7: 33,063,969 (GRCm39) |
R100S |
probably benign |
Het |
Scn8a |
C |
T |
15: 100,927,718 (GRCm39) |
A1399V |
probably benign |
Het |
Slc22a7 |
A |
G |
17: 46,747,756 (GRCm39) |
V267A |
probably benign |
Het |
Slc7a11 |
T |
C |
3: 50,372,440 (GRCm39) |
E263G |
possibly damaging |
Het |
Slmap |
A |
G |
14: 26,143,703 (GRCm39) |
L728P |
probably damaging |
Het |
Smarcb1 |
A |
T |
10: 75,745,986 (GRCm39) |
|
probably null |
Het |
Sspn |
T |
C |
6: 145,901,361 (GRCm39) |
V80A |
possibly damaging |
Het |
Tasor2 |
A |
T |
13: 3,619,516 (GRCm39) |
D2238E |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,195,399 (GRCm39) |
T581A |
probably benign |
Het |
Themis |
A |
G |
10: 28,673,502 (GRCm39) |
*596W |
probably null |
Het |
Trac |
T |
C |
14: 54,460,557 (GRCm39) |
|
probably benign |
Het |
Trim37 |
T |
C |
11: 87,109,093 (GRCm39) |
F940S |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,974,490 (GRCm39) |
T231A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,580,529 (GRCm39) |
I23455V |
probably benign |
Het |
Wap |
G |
T |
11: 6,586,724 (GRCm39) |
T125K |
probably benign |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Zfp85 |
T |
C |
13: 67,896,893 (GRCm39) |
D393G |
possibly damaging |
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 |
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 |
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'- CCAGTGTCACACCAAAAGGG -3'
(R):5'- ATGGGAATCAACTTTGCGACG -3'
Sequencing Primer
(F):5'- TGGAAACAGTGGCTCTAACAGC -3'
(R):5'- GGAATCAACTTTGCGACGTTTTTC -3'
|
Posted On |
2020-06-30 |