Incidental Mutation 'R7795:Thoc1'
ID |
600197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc1
|
Ensembl Gene |
ENSMUSG00000024287 |
Gene Name |
THO complex 1 |
Synonyms |
NMP-84, 3110002N20Rik |
MMRRC Submission |
045851-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7795 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
9958176-9995486 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9986300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 344
(V344A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025137]
|
AlphaFold |
Q8R3N6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025137
AA Change: V344A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000025137 Gene: ENSMUSG00000024287 AA Change: V344A
Domain | Start | End | E-Value | Type |
Pfam:efThoc1
|
69 |
546 |
7.2e-149 |
PFAM |
DEATH
|
560 |
653 |
1.27e-24 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankle1 |
T |
C |
8: 71,861,337 (GRCm39) |
S391P |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,811,570 (GRCm39) |
Q606R |
probably benign |
Het |
Bmf |
A |
G |
2: 118,377,358 (GRCm39) |
L130P |
probably damaging |
Het |
Ccdc88c |
G |
A |
12: 100,889,570 (GRCm39) |
T1491I |
probably benign |
Het |
Cyp2c69 |
G |
A |
19: 39,864,663 (GRCm39) |
R272C |
probably benign |
Het |
Defa27 |
A |
G |
8: 21,806,354 (GRCm39) |
N78S |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,101,447 (GRCm39) |
D912E |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,099,288 (GRCm39) |
D743N |
probably damaging |
Het |
Epcam |
T |
C |
17: 87,950,983 (GRCm39) |
V190A |
probably benign |
Het |
Exoc2 |
G |
A |
13: 31,060,756 (GRCm39) |
R583* |
probably null |
Het |
Extl1 |
T |
A |
4: 134,091,990 (GRCm39) |
I288F |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fcer2a |
T |
A |
8: 3,732,910 (GRCm39) |
Y299F |
probably benign |
Het |
Frmd4a |
G |
A |
2: 4,595,506 (GRCm39) |
G439R |
probably damaging |
Het |
Gal3st4 |
T |
C |
5: 138,269,100 (GRCm39) |
H120R |
probably benign |
Het |
Grid1 |
C |
A |
14: 35,043,642 (GRCm39) |
N332K |
probably damaging |
Het |
Igkv4-68 |
A |
G |
6: 69,281,896 (GRCm39) |
Y92H |
probably damaging |
Het |
Itga1 |
T |
C |
13: 115,148,772 (GRCm39) |
E283G |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Lrrc24 |
A |
G |
15: 76,602,248 (GRCm39) |
L169P |
probably benign |
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Mettl8 |
T |
C |
2: 70,812,243 (GRCm39) |
T131A |
probably benign |
Het |
Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,460,154 (GRCm39) |
D383E |
probably damaging |
Het |
Neto1 |
A |
T |
18: 86,479,198 (GRCm39) |
K167N |
probably benign |
Het |
Nkx6-1 |
A |
T |
5: 101,811,628 (GRCm39) |
L158Q |
unknown |
Het |
Nlrp5 |
G |
A |
7: 23,118,219 (GRCm39) |
V648M |
possibly damaging |
Het |
Nvl |
G |
T |
1: 180,924,722 (GRCm39) |
Q811K |
probably benign |
Het |
Or13a21 |
A |
G |
7: 139,999,027 (GRCm39) |
F220L |
possibly damaging |
Het |
Or13p3 |
C |
A |
4: 118,566,855 (GRCm39) |
H84N |
possibly damaging |
Het |
Or1j10 |
A |
G |
2: 36,267,453 (GRCm39) |
T222A |
probably benign |
Het |
Or3a1c |
T |
A |
11: 74,046,844 (GRCm39) |
L288Q |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,881,316 (GRCm39) |
Y224C |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,334,657 (GRCm39) |
Y324H |
probably benign |
Het |
Pecam1 |
C |
A |
11: 106,586,658 (GRCm39) |
E286* |
probably null |
Het |
Prl7d1 |
A |
T |
13: 27,893,263 (GRCm39) |
L215Q |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,319,729 (GRCm39) |
Y2514* |
probably null |
Het |
Rgs11 |
A |
G |
17: 26,426,552 (GRCm39) |
H261R |
possibly damaging |
Het |
Samd15 |
A |
G |
12: 87,247,506 (GRCm39) |
T64A |
probably benign |
Het |
Shc4 |
T |
A |
2: 125,565,285 (GRCm39) |
S5C |
probably damaging |
Het |
Shroom3 |
G |
A |
5: 93,067,508 (GRCm39) |
V109M |
probably damaging |
Het |
Spata13 |
T |
C |
14: 60,929,291 (GRCm39) |
I283T |
possibly damaging |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Synj2bp |
G |
A |
12: 81,548,922 (GRCm39) |
P106S |
probably benign |
Het |
Tasor |
T |
C |
14: 27,203,340 (GRCm39) |
S289P |
|
Het |
Vmn1r71 |
A |
G |
7: 10,482,136 (GRCm39) |
L184S |
probably damaging |
Het |
Vps45 |
A |
G |
3: 95,926,936 (GRCm39) |
I537T |
probably benign |
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 |
R4320:Thoc1
|
UTSW |
18 |
9,960,493 (GRCm39) |
missense |
probably benign |
|
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 |
|
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'- GTCAGACCAGGTAATTGAATGTC -3'
(R):5'- AACCAAGACGTGTTTGTGTTCTTG -3'
Sequencing Primer
(F):5'- CCAGGTAATTGAATGTCTTATTTGCC -3'
(R):5'- GTGTTCTTGTACCTGAGCTTAAC -3'
|
Posted On |
2019-11-26 |