Incidental Mutation 'R1686:Thoc2l'
| ID |
189335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc2l
|
| Ensembl Gene |
ENSMUSG00000079065 |
| Gene Name |
THO complex subunit 2-like |
| Synonyms |
Gm3179, BC005561 |
| MMRRC Submission |
039719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.933)
|
| Stock # |
R1686 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 104667789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 770
(Y770*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096452]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096452
AA Change: Y770*
|
| SMART Domains |
Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: Y770*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (85/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
G |
A |
10: 100,448,722 (GRCm39) |
V400I |
probably damaging |
Het |
| Abcb1b |
A |
G |
5: 8,848,782 (GRCm39) |
N14S |
probably damaging |
Het |
| Adamts14 |
A |
G |
10: 61,034,439 (GRCm39) |
Y1150H |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,759,997 (GRCm39) |
N72S |
probably benign |
Het |
| Akain1 |
T |
A |
17: 69,746,527 (GRCm39) |
F3I |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,627,452 (GRCm39) |
L182P |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,659 (GRCm39) |
Y12N |
probably damaging |
Het |
| Aup1 |
A |
T |
6: 83,032,226 (GRCm39) |
H131L |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,363,928 (GRCm39) |
T812A |
possibly damaging |
Het |
| Bmp2k |
A |
G |
5: 97,211,392 (GRCm39) |
Y520C |
unknown |
Het |
| Calm4 |
T |
G |
13: 3,888,302 (GRCm39) |
V136G |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,230,523 (GRCm39) |
|
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,896,713 (GRCm39) |
T1537A |
possibly damaging |
Het |
| Cntn2 |
A |
T |
1: 132,454,049 (GRCm39) |
V319D |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,304,235 (GRCm39) |
R1314* |
probably null |
Het |
| Cxcl12 |
A |
G |
6: 117,150,508 (GRCm39) |
I79V |
probably damaging |
Het |
| Cyp2j6 |
T |
C |
4: 96,412,014 (GRCm39) |
D418G |
probably benign |
Het |
| Ddx28 |
G |
C |
8: 106,737,190 (GRCm39) |
D289E |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam135a |
A |
C |
1: 24,068,887 (GRCm39) |
S448A |
probably benign |
Het |
| Fbxo33 |
G |
T |
12: 59,251,626 (GRCm39) |
N30K |
possibly damaging |
Het |
| Fgf12 |
A |
C |
16: 28,217,093 (GRCm39) |
Y21D |
probably damaging |
Het |
| Galntl5 |
C |
T |
5: 25,415,432 (GRCm39) |
S288L |
probably benign |
Het |
| Gart |
G |
T |
16: 91,422,237 (GRCm39) |
A760D |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,573,869 (GRCm39) |
|
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,357 (GRCm39) |
S139* |
probably null |
Het |
| Gm4781 |
A |
T |
10: 100,232,837 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9790 |
A |
G |
3: 85,823,156 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
G |
A |
3: 63,893,075 (GRCm39) |
G127R |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,802,443 (GRCm39) |
V283E |
probably benign |
Het |
| Gprc5a |
A |
T |
6: 135,055,918 (GRCm39) |
I122F |
possibly damaging |
Het |
| Gzmc |
T |
C |
14: 56,471,341 (GRCm39) |
K67E |
probably benign |
Het |
| Hapln3 |
C |
A |
7: 78,771,638 (GRCm39) |
V84L |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,778,789 (GRCm39) |
N377Y |
possibly damaging |
Het |
| Ifi211 |
G |
A |
1: 173,726,969 (GRCm39) |
H392Y |
probably damaging |
Het |
| Iqgap3 |
T |
A |
3: 88,015,663 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
T |
A |
3: 96,559,141 (GRCm39) |
F410Y |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,263,260 (GRCm39) |
Y705C |
probably damaging |
Het |
| Khsrp |
C |
T |
17: 57,332,597 (GRCm39) |
A228T |
probably benign |
Het |
| Lmntd2 |
C |
T |
7: 140,790,998 (GRCm39) |
G445D |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
| Magel2 |
T |
A |
7: 62,027,988 (GRCm39) |
H297Q |
possibly damaging |
Het |
| Mbd6 |
T |
C |
10: 127,123,286 (GRCm39) |
E33G |
probably damaging |
Het |
| Mob3b |
A |
G |
4: 34,985,910 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mymk |
A |
T |
2: 26,952,346 (GRCm39) |
W174R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,174,599 (GRCm39) |
Y384C |
possibly damaging |
Het |
| Nt5c3b |
A |
G |
11: 100,330,920 (GRCm39) |
|
probably benign |
Het |
| Obox6 |
T |
A |
7: 15,567,750 (GRCm39) |
L232F |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,997,113 (GRCm39) |
|
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,839 (GRCm39) |
L185P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,748,278 (GRCm39) |
I706V |
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,546,168 (GRCm39) |
|
probably benign |
Het |
| Plek2 |
T |
C |
12: 78,941,184 (GRCm39) |
D216G |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,046,665 (GRCm39) |
Y855C |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
| Psma7 |
A |
T |
2: 179,679,215 (GRCm39) |
D184E |
probably benign |
Het |
| Rai14 |
T |
A |
15: 10,592,282 (GRCm39) |
L204F |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,199,920 (GRCm39) |
V1208A |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,582,458 (GRCm39) |
R67G |
possibly damaging |
Het |
| Ryr2 |
C |
T |
13: 11,618,665 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,047,027 (GRCm39) |
S763G |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,020,292 (GRCm39) |
H690L |
probably benign |
Het |
| Sfrp5 |
A |
C |
19: 42,190,143 (GRCm39) |
V103G |
possibly damaging |
Het |
| Six6 |
A |
G |
12: 72,988,451 (GRCm39) |
E208G |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,437,334 (GRCm39) |
H1364L |
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,529,973 (GRCm39) |
T2077S |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,535,254 (GRCm39) |
L74P |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,074,245 (GRCm39) |
E1880G |
probably benign |
Het |
| Tgfb3 |
A |
T |
12: 86,116,517 (GRCm39) |
|
probably benign |
Het |
| Thap7 |
G |
A |
16: 17,346,576 (GRCm39) |
P136S |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,098,036 (GRCm39) |
V717A |
possibly damaging |
Het |
| Usp43 |
T |
A |
11: 67,778,593 (GRCm39) |
S446C |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,371 (GRCm39) |
S492L |
probably damaging |
Het |
| Wdhd1 |
T |
A |
14: 47,493,672 (GRCm39) |
N16I |
probably damaging |
Het |
| Wdr95 |
A |
T |
5: 149,516,566 (GRCm39) |
D327V |
probably damaging |
Het |
| Zfp128 |
T |
G |
7: 12,624,563 (GRCm39) |
Y310* |
probably null |
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 |
|
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'- TGGAGCAGCTTGAGGCTATGACAG -3'
(R):5'- TCATGGACAGGAGCCATCACCATC -3'
Sequencing Primer
(F):5'- ACTGAAAGCTGAAGGTGGATATTTTG -3'
(R):5'- GAACTTTATGTTGCTGCTTACTACC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation