Incidental Mutation 'R1816:Thoc2l'
| ID |
204414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc2l
|
| Ensembl Gene |
ENSMUSG00000079065 |
| Gene Name |
THO complex subunit 2-like |
| Synonyms |
Gm3179, BC005561 |
| MMRRC Submission |
039844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R1816 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104665700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 74
(D74G)
|
| 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: D74G
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: D74G
| 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 |
|
| Meta Mutation Damage Score |
0.1237 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.9%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,644,222 (GRCm39) |
Y721* |
probably null |
Het |
| 4933405L10Rik |
T |
A |
8: 106,436,491 (GRCm39) |
V220E |
possibly damaging |
Het |
| 4933434E20Rik |
T |
C |
3: 89,960,398 (GRCm39) |
V13A |
possibly damaging |
Het |
| Adam1b |
T |
G |
5: 121,639,788 (GRCm39) |
Q419P |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,784,028 (GRCm39) |
V316A |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,205,547 (GRCm39) |
D294E |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,748,747 (GRCm39) |
S431P |
probably benign |
Het |
| Bfsp1 |
C |
T |
2: 143,683,599 (GRCm39) |
A242T |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,951,405 (GRCm39) |
V279E |
probably damaging |
Het |
| Camkk2 |
A |
G |
5: 122,872,243 (GRCm39) |
L540P |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,805,690 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
G |
T |
1: 116,356,618 (GRCm39) |
A823S |
probably benign |
Het |
| Cp |
T |
C |
3: 20,022,384 (GRCm39) |
|
probably benign |
Het |
| Dhx58 |
A |
G |
11: 100,593,978 (GRCm39) |
V163A |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
| Disp1 |
T |
A |
1: 182,880,139 (GRCm39) |
D288V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,670,901 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
T |
G |
16: 36,628,371 (GRCm39) |
|
probably benign |
Het |
| Efna1 |
T |
C |
3: 89,183,694 (GRCm39) |
N44S |
possibly damaging |
Het |
| Etnppl |
T |
C |
3: 130,428,211 (GRCm39) |
I462T |
probably benign |
Het |
| Fam83d |
G |
T |
2: 158,610,070 (GRCm39) |
A13S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
| Fstl1 |
A |
G |
16: 37,647,086 (GRCm39) |
|
probably null |
Het |
| Gm14226 |
A |
T |
2: 154,867,549 (GRCm39) |
D502V |
probably damaging |
Het |
| Gm5117 |
T |
A |
8: 32,228,986 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
A |
G |
1: 59,621,558 (GRCm39) |
N566S |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,472,752 (GRCm39) |
K16* |
probably null |
Het |
| Hbb-bh2 |
G |
A |
7: 103,489,585 (GRCm39) |
T17I |
possibly damaging |
Het |
| Htt |
C |
T |
5: 34,961,084 (GRCm39) |
A237V |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,671,153 (GRCm39) |
V665A |
probably benign |
Het |
| Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,309,116 (GRCm39) |
D445G |
possibly damaging |
Het |
| Myo10 |
T |
C |
15: 25,800,286 (GRCm39) |
V1454A |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
| Odam |
A |
G |
5: 88,037,329 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
T |
C |
11: 73,738,025 (GRCm39) |
K309E |
probably benign |
Het |
| Or2ag13 |
A |
T |
7: 106,472,695 (GRCm39) |
Y252* |
probably null |
Het |
| Or4p18 |
T |
G |
2: 88,232,943 (GRCm39) |
I112L |
possibly damaging |
Het |
| Or5g29 |
G |
T |
2: 85,421,269 (GRCm39) |
K128N |
probably benign |
Het |
| Or5p80 |
T |
C |
7: 108,229,364 (GRCm39) |
L55P |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,011 (GRCm39) |
C152* |
probably null |
Het |
| Pcm1 |
T |
A |
8: 41,762,574 (GRCm39) |
S1412T |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,531,216 (GRCm39) |
L753P |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,908,088 (GRCm39) |
S153P |
probably damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,029,108 (GRCm39) |
A1398V |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,391,635 (GRCm39) |
I1567T |
possibly damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,585,314 (GRCm39) |
V1571I |
probably benign |
Het |
| Rfx2 |
C |
A |
17: 57,115,305 (GRCm39) |
E5* |
probably null |
Het |
| Sh3tc1 |
C |
A |
5: 35,857,928 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
G |
A |
19: 6,592,683 (GRCm39) |
Q20* |
probably null |
Het |
| Slc4a1 |
A |
G |
11: 102,242,056 (GRCm39) |
C861R |
probably damaging |
Het |
| Snrnp25 |
G |
A |
11: 32,157,565 (GRCm39) |
V48I |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,186,962 (GRCm39) |
P211Q |
probably damaging |
Het |
| Srgap1 |
G |
A |
10: 121,761,876 (GRCm39) |
Q91* |
probably null |
Het |
| Stab1 |
T |
C |
14: 30,879,422 (GRCm39) |
D686G |
probably benign |
Het |
| Stx8 |
T |
A |
11: 67,902,152 (GRCm39) |
M112K |
possibly damaging |
Het |
| Tfap2b |
A |
T |
1: 19,279,436 (GRCm39) |
K15N |
probably damaging |
Het |
| Thbs2 |
C |
A |
17: 14,890,975 (GRCm39) |
D1052Y |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,890,976 (GRCm39) |
E1051D |
probably benign |
Het |
| Tlr2 |
T |
C |
3: 83,745,516 (GRCm39) |
Y189C |
probably damaging |
Het |
| Tmem268 |
C |
A |
4: 63,483,947 (GRCm39) |
P55T |
possibly damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,557,016 (GRCm39) |
H745R |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,258,603 (GRCm39) |
V548A |
possibly damaging |
Het |
| Ube2s |
T |
C |
7: 4,814,554 (GRCm39) |
N2S |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,935,697 (GRCm39) |
Y39H |
probably damaging |
Het |
| Vmn1r49 |
G |
T |
6: 90,049,785 (GRCm39) |
D72E |
possibly damaging |
Het |
| Vmn2r27 |
C |
A |
6: 124,207,330 (GRCm39) |
G104* |
probably null |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,939 (GRCm39) |
I93V |
probably damaging |
Het |
| Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
| Zfp958 |
A |
T |
8: 4,679,147 (GRCm39) |
I391F |
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 |
|
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'- CTGCAGAGTGGATCAAGACCTG -3'
(R):5'- TGCGATTGTTTGATAAGGCCC -3'
Sequencing Primer
(F):5'- TCAAGACCTGGGAAAAATCTGG -3'
(R):5'- TGTTTGATAAGGCCCAATGACCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation