Incidental Mutation 'R4758:Thoc2l'
ID |
358306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc2l
|
Ensembl Gene |
ENSMUSG00000079065 |
Gene Name |
THO complex subunit 2-like |
Synonyms |
Gm3179, BC005561 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R4758 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 104668265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 929
(E929A)
|
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: E929A
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000130629 Gene: ENSMUSG00000079065 AA Change: E929A
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
A |
3: 36,127,754 (GRCm39) |
Y119N |
probably damaging |
Het |
Actn2 |
T |
A |
13: 12,303,472 (GRCm39) |
K443* |
probably null |
Het |
Adgrb2 |
A |
G |
4: 129,903,143 (GRCm39) |
N581S |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,487,385 (GRCm39) |
S416T |
probably benign |
Het |
Alb |
A |
T |
5: 90,616,452 (GRCm39) |
H319L |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,371,741 (GRCm39) |
I802V |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,866,127 (GRCm39) |
G995E |
probably benign |
Het |
Capn12 |
A |
C |
7: 28,592,148 (GRCm39) |
T689P |
possibly damaging |
Het |
Cars1 |
T |
C |
7: 143,125,304 (GRCm39) |
S312G |
probably benign |
Het |
Cast |
T |
A |
13: 74,887,999 (GRCm39) |
D216V |
possibly damaging |
Het |
Ccdc13 |
C |
T |
9: 121,662,800 (GRCm39) |
E72K |
possibly damaging |
Het |
Cd300lg |
G |
T |
11: 101,944,417 (GRCm39) |
|
probably null |
Het |
Cep41 |
A |
G |
6: 30,671,368 (GRCm39) |
|
probably benign |
Het |
Chrna3 |
A |
G |
9: 54,929,560 (GRCm39) |
Y93H |
probably damaging |
Het |
Cic |
A |
G |
7: 24,991,636 (GRCm39) |
R1309G |
possibly damaging |
Het |
Clcnkb |
A |
G |
4: 141,135,160 (GRCm39) |
V526A |
probably benign |
Het |
Clec4a1 |
G |
T |
6: 122,910,825 (GRCm39) |
V227F |
probably damaging |
Het |
Cpa5 |
C |
A |
6: 30,615,159 (GRCm39) |
H99N |
possibly damaging |
Het |
Crem |
C |
A |
18: 3,327,527 (GRCm39) |
C4F |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Decr2 |
C |
A |
17: 26,307,914 (GRCm39) |
E46D |
probably damaging |
Het |
Dlg1 |
G |
A |
16: 31,610,570 (GRCm39) |
V284I |
possibly damaging |
Het |
Dnah3 |
T |
C |
7: 119,678,629 (GRCm39) |
E360G |
probably benign |
Het |
Dnajc1 |
A |
T |
2: 18,313,757 (GRCm39) |
Y121* |
probably null |
Het |
Dnajc13 |
A |
G |
9: 104,049,773 (GRCm39) |
F1783L |
probably damaging |
Het |
Eps8l2 |
T |
A |
7: 140,940,286 (GRCm39) |
D505E |
probably damaging |
Het |
Eral1 |
G |
A |
11: 77,966,425 (GRCm39) |
T251I |
probably benign |
Het |
Eya3 |
T |
C |
4: 132,422,196 (GRCm39) |
|
probably null |
Het |
Fam120a |
G |
A |
13: 49,034,333 (GRCm39) |
T1093I |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,159,458 (GRCm39) |
A2424T |
probably benign |
Het |
Git2 |
G |
A |
5: 114,868,412 (GRCm39) |
T256M |
probably damaging |
Het |
Gm9805 |
A |
T |
17: 22,689,871 (GRCm38) |
Y34F |
probably benign |
Het |
Itgb7 |
T |
G |
15: 102,124,642 (GRCm39) |
T792P |
probably benign |
Het |
Jakmip1 |
T |
A |
5: 37,285,966 (GRCm39) |
I665N |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,446,635 (GRCm39) |
Y677H |
probably damaging |
Het |
Klhdc4 |
G |
A |
8: 122,524,783 (GRCm39) |
P382S |
probably benign |
Het |
Knl1 |
TCC |
TC |
2: 118,902,213 (GRCm39) |
|
probably null |
Het |
Lamb3 |
T |
A |
1: 193,022,269 (GRCm39) |
M1039K |
possibly damaging |
Het |
Lipm |
A |
T |
19: 34,078,570 (GRCm39) |
M1L |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,505,290 (GRCm39) |
V2226A |
possibly damaging |
Het |
Magi3 |
T |
A |
3: 103,922,637 (GRCm39) |
D1360V |
probably benign |
Het |
Mier2 |
C |
A |
10: 79,386,182 (GRCm39) |
C23F |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,487,643 (GRCm39) |
R616C |
probably damaging |
Het |
Nars2 |
A |
G |
7: 96,622,735 (GRCm39) |
D187G |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,912,824 (GRCm39) |
M988V |
probably benign |
Het |
Nlrc5 |
C |
A |
8: 95,238,956 (GRCm39) |
Q1465K |
possibly damaging |
Het |
Nlrp4e |
T |
C |
7: 23,020,043 (GRCm39) |
F177L |
probably benign |
Het |
Oas1a |
A |
G |
5: 121,045,401 (GRCm39) |
F47L |
probably damaging |
Het |
Oas1f |
A |
G |
5: 120,985,545 (GRCm39) |
E30G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,894,189 (GRCm39) |
M6689K |
unknown |
Het |
Obscn |
A |
T |
11: 59,026,743 (GRCm39) |
D153E |
probably damaging |
Het |
Or52s6 |
A |
C |
7: 103,092,076 (GRCm39) |
C85G |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,882,036 (GRCm39) |
I36K |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,310,383 (GRCm39) |
F535Y |
probably damaging |
Het |
Pde2a |
C |
T |
7: 101,160,706 (GRCm39) |
R886C |
probably damaging |
Het |
Pik3ca |
T |
A |
3: 32,492,127 (GRCm39) |
C242S |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,311,674 (GRCm39) |
D1925E |
possibly damaging |
Het |
Plekhm2 |
A |
T |
4: 141,369,316 (GRCm39) |
Y123N |
possibly damaging |
Het |
Pomt2 |
A |
T |
12: 87,169,652 (GRCm39) |
V406D |
probably damaging |
Het |
Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,273,708 (GRCm39) |
T985S |
probably benign |
Het |
Proc |
T |
A |
18: 32,256,863 (GRCm39) |
Y268F |
probably damaging |
Het |
Prrc1 |
C |
T |
18: 57,517,320 (GRCm39) |
T365M |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,382,567 (GRCm39) |
D446E |
probably benign |
Het |
Ribc2 |
T |
A |
15: 85,025,867 (GRCm39) |
L281Q |
probably damaging |
Het |
Runx1t1 |
A |
G |
4: 13,865,907 (GRCm39) |
D385G |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,717,880 (GRCm39) |
S1495P |
possibly damaging |
Het |
Slc15a3 |
G |
T |
19: 10,831,726 (GRCm39) |
|
probably null |
Het |
Slc43a3 |
A |
G |
2: 84,774,869 (GRCm39) |
N149S |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,082,182 (GRCm39) |
Q543R |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,014,661 (GRCm39) |
|
probably null |
Het |
Spns1 |
A |
T |
7: 125,969,966 (GRCm39) |
F478Y |
probably damaging |
Het |
Srebf2 |
T |
C |
15: 82,080,370 (GRCm39) |
V821A |
probably benign |
Het |
Stac3 |
A |
G |
10: 127,339,214 (GRCm39) |
M108V |
possibly damaging |
Het |
Stradb |
A |
G |
1: 59,027,730 (GRCm39) |
T87A |
probably benign |
Het |
Stxbp5l |
A |
T |
16: 36,954,592 (GRCm39) |
M906K |
probably benign |
Het |
Tex14 |
T |
C |
11: 87,405,311 (GRCm39) |
V741A |
probably benign |
Het |
Tpo |
C |
A |
12: 30,125,870 (GRCm39) |
G830C |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,128,080 (GRCm39) |
C2308* |
probably null |
Het |
Vmn1r205 |
T |
C |
13: 22,777,016 (GRCm39) |
T29A |
possibly damaging |
Het |
Vmn1r69 |
G |
A |
7: 10,314,473 (GRCm39) |
T7I |
probably benign |
Het |
Vmn2r27 |
T |
G |
6: 124,208,596 (GRCm39) |
T50P |
possibly damaging |
Het |
Wdr83 |
A |
G |
8: 85,801,867 (GRCm39) |
Y302H |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,346,879 (GRCm39) |
E3040V |
probably damaging |
Het |
Zfp629 |
C |
A |
7: 127,209,758 (GRCm39) |
G684W |
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 |
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 |
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'- TGAAGCAGTGGTCTCGTTAC -3'
(R):5'- GAGCACAGTAAACAGAATCAATTGC -3'
Sequencing Primer
(F):5'- GTTACATATCTCCAAAGTCTGGGACG -3'
(R):5'- CTAAGAGCCAGTTGTCCTT -3'
|
Posted On |
2015-11-11 |