Incidental Mutation 'R9452:Thoc2l'
| ID |
714322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc2l
|
| Ensembl Gene |
ENSMUSG00000079065 |
| Gene Name |
THO complex subunit 2-like |
| Synonyms |
Gm3179, BC005561 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.933)
|
| Stock # |
R9452 (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 A
at 104669610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1377
(N1377K)
|
| 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: N1377K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: N1377K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,612,382 (GRCm39) |
Y564C |
probably null |
Het |
| Ablim2 |
A |
T |
5: 36,015,198 (GRCm39) |
D470V |
probably benign |
Het |
| Actr10 |
T |
C |
12: 71,006,818 (GRCm39) |
|
probably null |
Het |
| Adam4 |
T |
A |
12: 81,467,071 (GRCm39) |
I517L |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,622,429 (GRCm39) |
D1659E |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,706,726 (GRCm39) |
V184A |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,947,733 (GRCm39) |
I157N |
probably benign |
Het |
| Bicc1 |
A |
T |
10: 70,792,981 (GRCm39) |
D224E |
probably damaging |
Het |
| C2 |
T |
G |
17: 35,095,319 (GRCm39) |
I209L |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Capn1 |
T |
C |
19: 6,057,287 (GRCm39) |
Y387C |
probably damaging |
Het |
| Cebpa |
A |
G |
7: 34,819,033 (GRCm39) |
I64V |
possibly damaging |
Het |
| Celf4 |
T |
G |
18: 25,624,219 (GRCm39) |
M436L |
probably benign |
Het |
| Cfb |
C |
A |
17: 35,078,084 (GRCm39) |
V436L |
probably benign |
Het |
| Ciart |
C |
T |
3: 95,788,527 (GRCm39) |
C104Y |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,394 (GRCm39) |
L898P |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,687,833 (GRCm39) |
M388K |
possibly damaging |
Het |
| Cypt12 |
T |
C |
3: 18,002,843 (GRCm39) |
V72A |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,941,541 (GRCm39) |
D309G |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,018,448 (GRCm39) |
V1394A |
probably benign |
Het |
| Dpp3 |
A |
C |
19: 4,973,750 (GRCm39) |
S108A |
probably benign |
Het |
| Eif5b |
C |
T |
1: 38,084,861 (GRCm39) |
P903S |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,733,690 (GRCm39) |
D580G |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,901 (GRCm39) |
V44A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,231,067 (GRCm39) |
K273E |
probably benign |
Het |
| Gzme |
T |
A |
14: 56,355,854 (GRCm39) |
I153F |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,744,462 (GRCm39) |
N2040K |
probably damaging |
Het |
| Ifi214 |
G |
T |
1: 173,356,894 (GRCm39) |
Q70K |
possibly damaging |
Het |
| Itpripl1 |
C |
A |
2: 126,983,334 (GRCm39) |
E263* |
probably null |
Het |
| Kat8 |
A |
G |
7: 127,524,421 (GRCm39) |
K433R |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lefty1 |
A |
T |
1: 180,762,849 (GRCm39) |
T59S |
probably benign |
Het |
| Lig3 |
C |
T |
11: 82,681,448 (GRCm39) |
T481M |
probably damaging |
Het |
| Lrfn1 |
A |
T |
7: 28,159,157 (GRCm39) |
I359F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,850,726 (GRCm39) |
C90* |
probably null |
Het |
| Micall2 |
T |
G |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
G |
T |
11: 4,441,037 (GRCm39) |
L539I |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,924,962 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
C |
3: 103,643,575 (GRCm39) |
T269A |
probably benign |
Het |
| Oprl1 |
C |
T |
2: 181,360,454 (GRCm39) |
A170V |
possibly damaging |
Het |
| Or4c112 |
C |
T |
2: 88,854,234 (GRCm39) |
G38R |
|
Het |
| Pdgfrb |
G |
A |
18: 61,198,798 (GRCm39) |
V319M |
possibly damaging |
Het |
| Pirb |
G |
A |
7: 3,720,617 (GRCm39) |
R294C |
possibly damaging |
Het |
| Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,614,841 (GRCm39) |
F228L |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,682,953 (GRCm39) |
D83V |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,992 (GRCm39) |
D111G |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,702 (GRCm39) |
S162P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,151 (GRCm39) |
I1174K |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,485,465 (GRCm39) |
Y431N |
possibly damaging |
Het |
| Pter |
A |
G |
2: 12,985,111 (GRCm39) |
D147G |
probably benign |
Het |
| Rbsn |
T |
C |
6: 92,178,745 (GRCm39) |
D134G |
possibly damaging |
Het |
| Rnf220 |
T |
C |
4: 117,153,339 (GRCm39) |
D299G |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,595,163 (GRCm39) |
S2004N |
probably benign |
Het |
| Slc7a4 |
T |
A |
16: 17,391,271 (GRCm39) |
N593I |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,400,808 (GRCm39) |
H506R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,152 (GRCm39) |
S2200P |
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,040,596 (GRCm39) |
H654Q |
probably benign |
Het |
| Ttll6 |
G |
A |
11: 96,026,588 (GRCm39) |
R124H |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,132 (GRCm39) |
C516R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,288 (GRCm39) |
S213P |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,697,257 (GRCm39) |
L771F |
possibly damaging |
Het |
| Washc4 |
A |
G |
10: 83,396,387 (GRCm39) |
N399S |
probably benign |
Het |
| Wdr37 |
G |
A |
13: 8,897,663 (GRCm39) |
H198Y |
|
Het |
| Zfp407 |
A |
G |
18: 84,580,579 (GRCm39) |
L178P |
probably benign |
Het |
| Zfp882 |
C |
T |
8: 72,668,831 (GRCm39) |
H553Y |
probably damaging |
Het |
| Zfp956 |
T |
C |
6: 47,940,370 (GRCm39) |
V243A |
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 |
|
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 |
|
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'- GCCAAAGAAAGAATGCCTAAATCTG -3'
(R):5'- CTTTACTCTTGCACAGTAGTGGTG -3'
Sequencing Primer
(F):5'- ATGCCTAAATCTGATAAAGACAAGG -3'
(R):5'- GATATAGAGCTTTGCTGAAGATTCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation