Incidental Mutation 'IGL01838:Thoc1'
| ID |
155027 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thoc1
|
| Ensembl Gene |
ENSMUSG00000024287 |
| Gene Name |
THO complex 1 |
| Synonyms |
NMP-84, 3110002N20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
9958176-9995486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9993386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 582
(G582S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025137]
[ENSMUST00000092096]
[ENSMUST00000116669]
|
| AlphaFold |
Q8R3N6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025137
AA Change: G582S
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: G582S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:efThoc1
|
69 |
546 |
7.2e-149 |
PFAM |
|
DEATH
|
560 |
653 |
1.27e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092096
|
| SMART Domains |
Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
4 |
74 |
3.61e-11 |
SMART |
|
Pfam:UCH
|
104 |
479 |
9e-57 |
PFAM |
|
Pfam:UCH_1
|
105 |
456 |
3.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116669
|
| SMART Domains |
Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
4 |
73 |
2.63e-4 |
SMART |
|
low complexity region
|
217 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133594
|
| Coding Region Coverage |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Cpe |
G |
T |
8: 65,047,998 (GRCm39) |
T422K |
possibly damaging |
Het |
| Dis3l |
C |
A |
9: 64,215,581 (GRCm39) |
V888L |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,397,297 (GRCm39) |
Y3909* |
probably null |
Het |
| Dnajb8 |
G |
A |
6: 88,200,033 (GRCm39) |
V190M |
possibly damaging |
Het |
| Grip2 |
A |
G |
6: 91,741,744 (GRCm39) |
V927A |
possibly damaging |
Het |
| Hyal3 |
C |
T |
9: 107,463,786 (GRCm39) |
R304C |
possibly damaging |
Het |
| Igkv8-21 |
A |
G |
6: 70,292,009 (GRCm39) |
S78P |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,891,100 (GRCm39) |
S356P |
probably damaging |
Het |
| Meiob |
T |
C |
17: 25,042,643 (GRCm39) |
V157A |
possibly damaging |
Het |
| Mrpl48 |
C |
T |
7: 100,201,860 (GRCm39) |
V35M |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,787,034 (GRCm39) |
Y739H |
probably damaging |
Het |
| Nfyb |
A |
G |
10: 82,586,642 (GRCm39) |
L174S |
probably benign |
Het |
| Prm2 |
T |
C |
16: 10,609,672 (GRCm39) |
|
probably benign |
Het |
| Prss50 |
T |
C |
9: 110,693,560 (GRCm39) |
L432P |
probably benign |
Het |
| Raly |
T |
A |
2: 154,701,590 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,587,649 (GRCm39) |
M1365K |
probably damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,348,464 (GRCm39) |
F270L |
possibly damaging |
Het |
| Spred1 |
T |
G |
2: 117,008,062 (GRCm39) |
S323A |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,121,910 (GRCm39) |
E761G |
possibly damaging |
Het |
| Thbs3 |
A |
T |
3: 89,126,365 (GRCm39) |
K229* |
probably null |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,956 (GRCm39) |
T512A |
probably benign |
Het |
| Wee1 |
T |
C |
7: 109,723,744 (GRCm39) |
S220P |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation