Incidental Mutation 'R5114:Thoc2l'
ID |
394073 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc2l
|
Ensembl Gene |
ENSMUSG00000079065 |
Gene Name |
THO complex subunit 2-like |
Synonyms |
Gm3179, BC005561 |
MMRRC Submission |
042702-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R5114 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104667742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 755
(F755I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096452]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096452
AA Change: F755I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130629 Gene: ENSMUSG00000079065 AA Change: F755I
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 |
0.7664 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
99% (93/94) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5830454E08Rik |
T |
A |
9: 120,406,693 (GRCm39) |
|
probably benign |
Het |
Ada |
G |
A |
2: 163,572,406 (GRCm39) |
R225C |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,867,254 (GRCm39) |
K625R |
probably benign |
Het |
Ano1 |
T |
C |
7: 144,210,820 (GRCm39) |
I182V |
possibly damaging |
Het |
Aoc1l2 |
A |
T |
6: 48,908,292 (GRCm39) |
M431L |
probably benign |
Het |
Aox4 |
T |
C |
1: 58,285,445 (GRCm39) |
V643A |
possibly damaging |
Het |
Arcn1 |
T |
C |
9: 44,671,441 (GRCm39) |
I29V |
probably benign |
Het |
Arhgap15 |
A |
G |
2: 43,670,630 (GRCm39) |
T5A |
probably benign |
Het |
Asb10 |
A |
T |
5: 24,745,740 (GRCm39) |
L62Q |
probably damaging |
Het |
Atp23 |
T |
A |
10: 126,723,403 (GRCm39) |
H233L |
possibly damaging |
Het |
Bglap2 |
C |
T |
3: 88,289,432 (GRCm39) |
|
probably benign |
Het |
Carnmt1 |
T |
C |
19: 18,655,098 (GRCm39) |
S84P |
probably damaging |
Het |
Ccdc152 |
A |
G |
15: 3,312,319 (GRCm39) |
I180T |
probably damaging |
Het |
Cdr2l |
T |
C |
11: 115,284,186 (GRCm39) |
F174S |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,301,312 (GRCm39) |
V2695I |
probably benign |
Het |
Chd1 |
C |
A |
17: 15,948,460 (GRCm39) |
S127R |
probably benign |
Het |
Chmp4c |
T |
A |
3: 10,450,646 (GRCm39) |
F75L |
probably benign |
Het |
Col13a1 |
A |
C |
10: 61,725,880 (GRCm39) |
V260G |
possibly damaging |
Het |
Col5a1 |
A |
G |
2: 27,915,664 (GRCm39) |
N183D |
probably damaging |
Het |
Cpn1 |
C |
T |
19: 43,974,634 (GRCm39) |
V32M |
probably damaging |
Het |
Cxcl1 |
A |
G |
5: 91,039,373 (GRCm39) |
M39V |
probably benign |
Het |
Dpep2 |
T |
A |
8: 106,712,825 (GRCm39) |
D455V |
probably damaging |
Het |
Dpp7 |
G |
A |
2: 25,242,749 (GRCm39) |
T441I |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,241,640 (GRCm39) |
H4001N |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,038,828 (GRCm39) |
A1519T |
probably benign |
Het |
Esrp2 |
C |
T |
8: 106,858,820 (GRCm39) |
V606I |
probably benign |
Het |
Fbxo40 |
T |
C |
16: 36,789,236 (GRCm39) |
K625E |
probably damaging |
Het |
Gbp2b |
A |
T |
3: 142,303,946 (GRCm39) |
I14F |
probably damaging |
Het |
Gpr37l1 |
G |
T |
1: 135,094,676 (GRCm39) |
F189L |
probably damaging |
Het |
Heatr5a |
G |
A |
12: 52,003,020 (GRCm39) |
Q161* |
probably null |
Het |
Hspa4l |
T |
C |
3: 40,700,197 (GRCm39) |
Y30H |
possibly damaging |
Het |
Hspg2 |
G |
A |
4: 137,239,237 (GRCm39) |
C388Y |
probably damaging |
Het |
Kcna1 |
A |
G |
6: 126,619,330 (GRCm39) |
I330T |
probably damaging |
Het |
Klhl3 |
T |
A |
13: 58,166,781 (GRCm39) |
Y350F |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,919,118 (GRCm39) |
|
probably null |
Het |
Krtap10-4 |
A |
T |
10: 77,662,520 (GRCm39) |
C109* |
probably null |
Het |
Lrch4 |
T |
C |
5: 137,636,179 (GRCm39) |
S377P |
probably benign |
Het |
Lrrc8c |
C |
A |
5: 105,755,349 (GRCm39) |
H375N |
probably damaging |
Het |
Lsg1 |
T |
C |
16: 30,380,538 (GRCm39) |
E633G |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,560,697 (GRCm39) |
|
probably benign |
Het |
Med12l |
C |
A |
3: 59,167,109 (GRCm39) |
T1523K |
possibly damaging |
Het |
Mrps27 |
A |
T |
13: 99,547,973 (GRCm39) |
|
probably benign |
Het |
Mzb1 |
T |
A |
18: 35,780,717 (GRCm39) |
Y158F |
probably benign |
Het |
Nat8l |
T |
A |
5: 34,155,823 (GRCm39) |
C160S |
probably damaging |
Het |
Ncf4 |
T |
C |
15: 78,146,593 (GRCm39) |
|
probably benign |
Het |
Or1b1 |
A |
T |
2: 36,994,814 (GRCm39) |
Y283N |
probably damaging |
Het |
Or1o3 |
T |
C |
17: 37,573,730 (GRCm39) |
Y275C |
probably damaging |
Het |
Pak2 |
T |
A |
16: 31,861,936 (GRCm39) |
|
probably benign |
Het |
Pcdhga12 |
T |
C |
18: 37,901,160 (GRCm39) |
I664T |
probably benign |
Het |
Pcnx2 |
A |
C |
8: 126,564,749 (GRCm39) |
L1048R |
possibly damaging |
Het |
Pcsk5 |
T |
C |
19: 17,652,949 (GRCm39) |
M246V |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,566,355 (GRCm39) |
V522D |
probably benign |
Het |
Plekhh1 |
A |
T |
12: 79,115,880 (GRCm39) |
M808L |
probably benign |
Het |
Plpp2 |
C |
A |
10: 79,362,973 (GRCm39) |
R157L |
probably benign |
Het |
Plrg1 |
T |
A |
3: 82,978,558 (GRCm39) |
H441Q |
probably benign |
Het |
Pnpla6 |
T |
C |
8: 3,572,613 (GRCm39) |
V300A |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,184,088 (GRCm39) |
K1633N |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,659,508 (GRCm39) |
V2004A |
possibly damaging |
Het |
Rasd1 |
G |
T |
11: 59,854,933 (GRCm39) |
S182R |
possibly damaging |
Het |
Rc3h2 |
A |
T |
2: 37,288,373 (GRCm39) |
|
probably null |
Het |
Rrp1b |
T |
A |
17: 32,255,445 (GRCm39) |
|
probably benign |
Het |
Ruvbl1 |
T |
C |
6: 88,474,272 (GRCm39) |
I425T |
probably benign |
Het |
Shisal1 |
T |
C |
15: 84,301,427 (GRCm39) |
D72G |
probably damaging |
Het |
Sipa1l1 |
C |
T |
12: 82,487,682 (GRCm39) |
A1652V |
probably benign |
Het |
Slc12a2 |
A |
G |
18: 58,032,344 (GRCm39) |
Y348C |
probably damaging |
Het |
Slc14a2 |
C |
A |
18: 78,238,963 (GRCm39) |
V219L |
possibly damaging |
Het |
Smc1b |
G |
T |
15: 84,949,185 (GRCm39) |
P1242Q |
probably damaging |
Het |
Smim33 |
A |
G |
18: 35,861,894 (GRCm39) |
Y126C |
probably damaging |
Het |
Snx27 |
T |
A |
3: 94,431,551 (GRCm39) |
D281V |
probably damaging |
Het |
Spem2 |
C |
T |
11: 69,707,973 (GRCm39) |
V331I |
probably benign |
Het |
Sptb |
C |
A |
12: 76,656,052 (GRCm39) |
K1343N |
probably damaging |
Het |
Sult2a8 |
T |
C |
7: 14,147,584 (GRCm39) |
I236V |
probably benign |
Het |
Syk |
A |
G |
13: 52,765,071 (GRCm39) |
E66G |
probably damaging |
Het |
Synm |
T |
A |
7: 67,385,406 (GRCm39) |
E310V |
probably damaging |
Het |
Tas2r118 |
G |
A |
6: 23,969,209 (GRCm39) |
A284V |
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,600,578 (GRCm39) |
N855D |
possibly damaging |
Het |
Tmem230 |
G |
T |
2: 132,087,871 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
G |
A |
18: 20,977,237 (GRCm39) |
T844I |
probably benign |
Het |
Trmt44 |
T |
C |
5: 35,722,812 (GRCm39) |
S419G |
possibly damaging |
Het |
Trpv1 |
T |
A |
11: 73,132,574 (GRCm39) |
V396E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubgcp2 |
A |
G |
7: 139,587,354 (GRCm39) |
I337T |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,137,934 (GRCm39) |
I1097T |
probably damaging |
Het |
Vmn2r61 |
T |
C |
7: 41,949,953 (GRCm39) |
F791S |
possibly damaging |
Het |
Zdhhc2 |
T |
A |
8: 40,898,825 (GRCm39) |
M45K |
probably benign |
Het |
Zfp383 |
T |
A |
7: 29,614,166 (GRCm39) |
D140E |
probably damaging |
Het |
Zfp712 |
C |
A |
13: 67,189,425 (GRCm39) |
K367N |
probably damaging |
Het |
Zfp763 |
C |
T |
17: 33,237,949 (GRCm39) |
A399T |
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 |
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 |
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'- AGGCAGGCAAAAGTTTTGATCTAC -3'
(R):5'- AAATGCTGCATCATGGGGTG -3'
Sequencing Primer
(F):5'- AAATGACAATGGAGCAGCTTG -3'
(R):5'- CTGCATCATGGGGTGTATGAAATTC -3'
|
Posted On |
2016-06-15 |