Incidental Mutation 'R4320:Thoc1'
ID |
323795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc1
|
Ensembl Gene |
ENSMUSG00000024287 |
Gene Name |
THO complex 1 |
Synonyms |
NMP-84, 3110002N20Rik |
MMRRC Submission |
041661-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4320 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
9958176-9995486 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9960493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 66
(H66R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025137]
|
AlphaFold |
Q8R3N6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025137
AA Change: H66R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025137 Gene: ENSMUSG00000024287 AA Change: H66R
Domain | Start | End | E-Value | Type |
Pfam:efThoc1
|
69 |
546 |
7.2e-149 |
PFAM |
DEATH
|
560 |
653 |
1.27e-24 |
SMART |
|
Meta Mutation Damage Score |
0.0589 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (46/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010] PHENOTYPE: Mutations in this gene result in embryonic lethality around implantation in homozygotes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
Brix1 |
A |
T |
15: 10,483,398 (GRCm39) |
M91K |
probably damaging |
Het |
Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
Daxx |
T |
C |
17: 34,130,393 (GRCm39) |
L136P |
probably damaging |
Het |
Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
Grk5 |
C |
T |
19: 61,080,383 (GRCm39) |
R576* |
probably null |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Htr1f |
T |
C |
16: 64,747,050 (GRCm39) |
I81V |
possibly damaging |
Het |
Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
Or12j2 |
T |
A |
7: 139,916,219 (GRCm39) |
I148N |
possibly damaging |
Het |
Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
Usp3 |
A |
G |
9: 66,437,530 (GRCm39) |
C258R |
possibly damaging |
Het |
Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Thoc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00694:Thoc1
|
APN |
18 |
9,989,744 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01313:Thoc1
|
APN |
18 |
9,987,158 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01501:Thoc1
|
APN |
18 |
9,986,321 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL01533:Thoc1
|
APN |
18 |
9,962,376 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01821:Thoc1
|
APN |
18 |
9,993,429 (GRCm39) |
missense |
probably benign |
|
IGL01838:Thoc1
|
APN |
18 |
9,993,386 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02193:Thoc1
|
APN |
18 |
9,992,863 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02531:Thoc1
|
APN |
18 |
9,970,258 (GRCm39) |
missense |
probably benign |
|
IGL03203:Thoc1
|
APN |
18 |
9,960,483 (GRCm39) |
splice site |
probably benign |
|
R0724:Thoc1
|
UTSW |
18 |
9,963,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R0831:Thoc1
|
UTSW |
18 |
9,963,267 (GRCm39) |
missense |
probably benign |
0.00 |
R2196:Thoc1
|
UTSW |
18 |
9,986,300 (GRCm39) |
missense |
probably damaging |
0.99 |
R2256:Thoc1
|
UTSW |
18 |
9,993,466 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2257:Thoc1
|
UTSW |
18 |
9,993,466 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2289:Thoc1
|
UTSW |
18 |
9,984,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Thoc1
|
UTSW |
18 |
9,977,947 (GRCm39) |
missense |
probably damaging |
0.99 |
R2937:Thoc1
|
UTSW |
18 |
9,959,255 (GRCm39) |
missense |
probably damaging |
0.96 |
R3967:Thoc1
|
UTSW |
18 |
9,968,787 (GRCm39) |
missense |
probably damaging |
0.99 |
R4012:Thoc1
|
UTSW |
18 |
9,987,651 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4686:Thoc1
|
UTSW |
18 |
9,970,312 (GRCm39) |
nonsense |
probably null |
|
R4811:Thoc1
|
UTSW |
18 |
9,993,438 (GRCm39) |
missense |
probably damaging |
0.97 |
R4962:Thoc1
|
UTSW |
18 |
9,962,387 (GRCm39) |
missense |
probably benign |
0.01 |
R5486:Thoc1
|
UTSW |
18 |
9,992,204 (GRCm39) |
missense |
probably benign |
0.39 |
R5648:Thoc1
|
UTSW |
18 |
9,962,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6291:Thoc1
|
UTSW |
18 |
9,993,330 (GRCm39) |
missense |
probably benign |
|
R6406:Thoc1
|
UTSW |
18 |
9,977,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:Thoc1
|
UTSW |
18 |
9,993,333 (GRCm39) |
missense |
probably benign |
|
R7379:Thoc1
|
UTSW |
18 |
9,992,902 (GRCm39) |
missense |
probably benign |
0.25 |
R7580:Thoc1
|
UTSW |
18 |
9,986,343 (GRCm39) |
missense |
probably damaging |
0.98 |
R7685:Thoc1
|
UTSW |
18 |
9,993,454 (GRCm39) |
nonsense |
probably null |
|
R7795:Thoc1
|
UTSW |
18 |
9,986,300 (GRCm39) |
missense |
probably damaging |
0.96 |
R7799:Thoc1
|
UTSW |
18 |
9,984,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R8498:Thoc1
|
UTSW |
18 |
9,989,693 (GRCm39) |
missense |
probably benign |
0.00 |
R8779:Thoc1
|
UTSW |
18 |
9,993,366 (GRCm39) |
missense |
probably benign |
0.18 |
R9302:Thoc1
|
UTSW |
18 |
9,968,800 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9488:Thoc1
|
UTSW |
18 |
9,992,168 (GRCm39) |
missense |
probably damaging |
1.00 |
X0057:Thoc1
|
UTSW |
18 |
9,992,178 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGTTTTGATTGACTCACTCTTTAC -3'
(R):5'- TTCTTGGCAAAGGAAGGAGTC -3'
Sequencing Primer
(F):5'- GACTCACTCTTTACTGCTTGATATAC -3'
(R):5'- CAGCATGCATGAGGCCCTATATTTG -3'
|
Posted On |
2015-06-24 |