Incidental Mutation 'R1636:Thoc2l'
| ID |
173155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc2l
|
| Ensembl Gene |
ENSMUSG00000079065 |
| Gene Name |
THO complex subunit 2-like |
| Synonyms |
Gm3179, BC005561 |
| MMRRC Submission |
039672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R1636 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104668616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1046
(M1046K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096452]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096452
AA Change: M1046K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: M1046K
| 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
|
| Meta Mutation Damage Score |
0.9053 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
96% (85/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Abca7 |
A |
G |
10: 79,844,832 (GRCm39) |
H1518R |
probably benign |
Het |
| Adam4 |
A |
G |
12: 81,466,464 (GRCm39) |
L719S |
probably damaging |
Het |
| Adprm |
T |
C |
11: 66,932,549 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,472,923 (GRCm39) |
Y78F |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,995,761 (GRCm39) |
P665L |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,788,987 (GRCm39) |
K637R |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,966,898 (GRCm39) |
L502M |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,860,841 (GRCm39) |
L315P |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,760,110 (GRCm39) |
Y613N |
probably damaging |
Het |
| Cdca7l |
G |
A |
12: 117,840,663 (GRCm39) |
R395H |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,226,156 (GRCm39) |
I368K |
probably damaging |
Het |
| D6Wsu163e |
T |
C |
6: 126,923,564 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ddx52 |
A |
G |
11: 83,846,169 (GRCm39) |
T470A |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,442,892 (GRCm39) |
E316G |
possibly damaging |
Het |
| Dip2a |
A |
T |
10: 76,157,412 (GRCm39) |
N64K |
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,587,997 (GRCm39) |
E631* |
probably null |
Het |
| Dner |
T |
C |
1: 84,563,051 (GRCm39) |
K190E |
possibly damaging |
Het |
| Eif2b4 |
T |
A |
5: 31,349,610 (GRCm39) |
|
probably null |
Het |
| Eif3a |
A |
T |
19: 60,770,343 (GRCm39) |
D119E |
possibly damaging |
Het |
| Ercc2 |
C |
T |
7: 19,121,049 (GRCm39) |
T276M |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,715,965 (GRCm39) |
K830R |
probably benign |
Het |
| F2r |
G |
T |
13: 95,740,400 (GRCm39) |
Y378* |
probably null |
Het |
| Fam186a |
G |
A |
15: 99,839,539 (GRCm39) |
T2235I |
unknown |
Het |
| Fmo3 |
T |
G |
1: 162,781,994 (GRCm39) |
K453T |
probably benign |
Het |
| Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
| Galns |
A |
G |
8: 123,330,955 (GRCm39) |
|
probably benign |
Het |
| Gm1818 |
T |
C |
12: 48,602,550 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9955 |
C |
A |
18: 24,842,287 (GRCm39) |
|
probably benign |
Het |
| Immp2l |
T |
C |
12: 41,750,470 (GRCm39) |
V113A |
probably damaging |
Het |
| Iyd |
T |
A |
10: 3,495,588 (GRCm39) |
M82K |
possibly damaging |
Het |
| Kif21a |
A |
T |
15: 90,869,008 (GRCm39) |
|
probably benign |
Het |
| Lipf |
A |
G |
19: 33,953,935 (GRCm39) |
D342G |
probably damaging |
Het |
| Lmbrd1 |
C |
A |
1: 24,786,011 (GRCm39) |
Y435* |
probably null |
Het |
| Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
| Mtrf1l |
A |
G |
10: 5,763,265 (GRCm39) |
S355P |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,820,560 (GRCm39) |
S788G |
probably damaging |
Het |
| Nfx1 |
T |
G |
4: 41,016,072 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,069,737 (GRCm39) |
V546A |
possibly damaging |
Het |
| Nwd2 |
G |
A |
5: 63,964,900 (GRCm39) |
V1495M |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,150,621 (GRCm39) |
I84F |
probably benign |
Het |
| Obscn |
A |
G |
11: 59,013,463 (GRCm39) |
F1153S |
probably damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,333,904 (GRCm39) |
C396S |
possibly damaging |
Het |
| Omg |
A |
G |
11: 79,393,166 (GRCm39) |
S231P |
probably benign |
Het |
| Or51a7 |
T |
G |
7: 102,614,898 (GRCm39) |
I197S |
possibly damaging |
Het |
| Or8g35 |
T |
C |
9: 39,381,215 (GRCm39) |
D269G |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,016 (GRCm39) |
T53A |
possibly damaging |
Het |
| Pik3r2 |
A |
T |
8: 71,224,542 (GRCm39) |
H244Q |
probably benign |
Het |
| Pinx1 |
A |
T |
14: 64,103,586 (GRCm39) |
H55L |
probably damaging |
Het |
| Pwwp2b |
T |
A |
7: 138,834,758 (GRCm39) |
H66Q |
probably benign |
Het |
| Rell2 |
A |
G |
18: 38,091,132 (GRCm39) |
D99G |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,203,681 (GRCm39) |
A1191V |
probably damaging |
Het |
| Rprm |
T |
C |
2: 53,975,316 (GRCm39) |
M1V |
probably null |
Het |
| Sav1 |
A |
C |
12: 70,031,269 (GRCm39) |
H84Q |
probably benign |
Het |
| Scamp5 |
T |
C |
9: 57,358,692 (GRCm39) |
D28G |
possibly damaging |
Het |
| Selenbp2 |
G |
A |
3: 94,604,122 (GRCm39) |
G9D |
probably damaging |
Het |
| Sh3tc2 |
T |
C |
18: 62,122,792 (GRCm39) |
W518R |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,777,012 (GRCm39) |
N29K |
probably benign |
Het |
| Spindoc |
C |
A |
19: 7,351,922 (GRCm39) |
D142Y |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,795 (GRCm39) |
D60E |
probably benign |
Het |
| Sugt1 |
A |
G |
14: 79,825,422 (GRCm39) |
I23V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,051,506 (GRCm39) |
C4079R |
probably benign |
Het |
| Tex15 |
T |
G |
8: 34,066,415 (GRCm39) |
Y1948* |
probably null |
Het |
| Tln2 |
T |
C |
9: 67,213,814 (GRCm39) |
E321G |
probably damaging |
Het |
| Tmem198b |
A |
G |
10: 128,638,065 (GRCm39) |
L166P |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,730,566 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
G |
A |
8: 72,106,034 (GRCm39) |
T690I |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,198,373 (GRCm39) |
I1479T |
possibly damaging |
Het |
| Vcan |
G |
A |
13: 89,851,786 (GRCm39) |
T1058I |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,096,522 (GRCm39) |
Q45R |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,380 (GRCm39) |
N209D |
probably damaging |
Het |
| Wbp1l |
A |
G |
19: 46,632,883 (GRCm39) |
Y40C |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,086,907 (GRCm39) |
H625L |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,892,623 (GRCm39) |
Y195C |
probably damaging |
Het |
| Zkscan6 |
C |
T |
11: 65,705,256 (GRCm39) |
|
probably benign |
Het |
| Zmym6 |
C |
A |
4: 127,017,560 (GRCm39) |
H1022N |
probably 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 |
|
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'- GGAGCATGTACAGCGAGTTCTACAC -3'
(R):5'- GCCCACTTGGTTGTAGATTGGTAGC -3'
Sequencing Primer
(F):5'- AAGGACAACTGGCTCTTAGC -3'
(R):5'- GCAATGTACCGATGCCTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation