Incidental Mutation 'R9358:Thoc2l'
| ID |
708514 |
| 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: 0.930)
|
| Stock # |
R9358 (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 104667826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 783
(F783L)
|
| 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: F783L
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: F783L
| 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: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
T |
3: 121,474,976 (GRCm39) |
K149* |
probably null |
Het |
| Ap3m2 |
G |
A |
8: 23,280,959 (GRCm39) |
S365F |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,060,833 (GRCm39) |
I3105K |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,492,628 (GRCm39) |
L1261P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,450,653 (GRCm39) |
|
probably null |
Het |
| Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
| Cachd1 |
G |
A |
4: 100,833,622 (GRCm39) |
V800M |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,222,881 (GRCm39) |
L892P |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,962,987 (GRCm39) |
R466* |
probably null |
Het |
| Cilp |
A |
G |
9: 65,183,269 (GRCm39) |
Q391R |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,002,836 (GRCm39) |
I137F |
probably damaging |
Het |
| Ctcfl |
T |
A |
2: 172,960,581 (GRCm39) |
M1L |
possibly damaging |
Het |
| Dnah14 |
G |
A |
1: 181,536,598 (GRCm39) |
A2414T |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,406,592 (GRCm39) |
L550P |
probably damaging |
Het |
| Erich6b |
T |
A |
14: 75,902,668 (GRCm39) |
S162T |
probably benign |
Het |
| Fbxw7 |
C |
A |
3: 84,883,561 (GRCm39) |
H578Q |
|
Het |
| Fer |
T |
C |
17: 64,280,076 (GRCm39) |
L418P |
possibly damaging |
Het |
| Fndc3b |
A |
C |
3: 27,505,556 (GRCm39) |
L904R |
possibly damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,935,422 (GRCm39) |
I249N |
possibly damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,127 (GRCm39) |
D304E |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpatch4 |
G |
T |
3: 87,962,452 (GRCm39) |
E222* |
probably null |
Het |
| Heatr1 |
A |
T |
13: 12,433,087 (GRCm39) |
T1146S |
probably benign |
Het |
| Hrc |
A |
C |
7: 44,985,984 (GRCm39) |
E378D |
probably benign |
Het |
| Hspg2 |
G |
T |
4: 137,244,909 (GRCm39) |
R878L |
probably damaging |
Het |
| Igkv1-122 |
A |
G |
6: 67,993,756 (GRCm39) |
M11V |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,643,885 (GRCm39) |
K75* |
probably null |
Het |
| Jag1 |
A |
G |
2: 136,924,948 (GRCm39) |
V1218A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,563,695 (GRCm39) |
D94N |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,064,378 (GRCm39) |
T1201M |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,492,761 (GRCm39) |
L11P |
unknown |
Het |
| Lrfn2 |
T |
C |
17: 49,403,530 (GRCm39) |
V551A |
probably damaging |
Het |
| Lrrc8d |
A |
G |
5: 105,960,358 (GRCm39) |
N256S |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,868,452 (GRCm39) |
S534P |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,437,734 (GRCm39) |
I187N |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,364,840 (GRCm39) |
M360V |
probably benign |
Het |
| Muc16 |
T |
G |
9: 18,553,520 (GRCm39) |
I4258L |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,781,520 (GRCm39) |
D1005G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,943,269 (GRCm39) |
R1645S |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,298,080 (GRCm39) |
V652D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,163,106 (GRCm39) |
M134K |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,586,868 (GRCm39) |
F893S |
probably damaging |
Het |
| Or10j3 |
A |
T |
1: 173,031,741 (GRCm39) |
R273W |
probably damaging |
Het |
| Or11h23 |
A |
G |
14: 50,947,802 (GRCm39) |
E5G |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,451 (GRCm39) |
I289N |
probably damaging |
Het |
| Or4f14b |
A |
G |
2: 111,775,429 (GRCm39) |
V124A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,799 (GRCm39) |
C182Y |
probably damaging |
Het |
| Pcgf1 |
G |
T |
6: 83,056,433 (GRCm39) |
R124L |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,448,533 (GRCm39) |
N10K |
probably damaging |
Het |
| Pdx1 |
C |
T |
5: 147,207,064 (GRCm39) |
Q6* |
probably null |
Het |
| Plcl1 |
T |
C |
1: 55,735,810 (GRCm39) |
S384P |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,653 (GRCm39) |
T364S |
possibly damaging |
Het |
| Slc5a11 |
C |
T |
7: 122,857,775 (GRCm39) |
T288I |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,291,271 (GRCm39) |
S515C |
probably damaging |
Het |
| Snca |
A |
T |
6: 60,710,121 (GRCm39) |
D119E |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,200,814 (GRCm39) |
D578G |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,890,729 (GRCm39) |
L389Q |
probably damaging |
Het |
| Tln1 |
A |
C |
4: 43,532,084 (GRCm39) |
I2501S |
possibly damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,257 (GRCm39) |
E27G |
probably damaging |
Het |
| Tmem200a |
G |
T |
10: 25,869,677 (GRCm39) |
N197K |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,434 (GRCm39) |
S11T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,953 (GRCm39) |
T28425A |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,439,379 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,477,197 (GRCm39) |
I398K |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,236 (GRCm39) |
H472L |
probably benign |
Het |
| Vps45 |
C |
T |
3: 95,940,976 (GRCm39) |
|
probably null |
Het |
| Wdr26 |
T |
C |
1: 181,019,423 (GRCm39) |
H334R |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,613 (GRCm39) |
Y350F |
possibly damaging |
Het |
| Zmynd10 |
A |
G |
9: 107,426,249 (GRCm39) |
D132G |
possibly damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,444,774 (GRCm39) |
T123A |
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 |
|
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'- ATCCTCTCAGAGATTAAAGGATGCAC -3'
(R):5'- TCATGGACAGGAGCCATCAC -3'
Sequencing Primer
(F):5'- GATGCACTACTGGACCATGATCTTG -3'
(R):5'- GGAGCCATCACCATCTCACATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation