Incidental Mutation 'IGL01821:Thoc1'
| ID |
154555 |
| 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 # |
IGL01821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
9958176-9995486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9993429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 596
(D596G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025137]
[ENSMUST00000092096]
[ENSMUST00000116669]
|
| AlphaFold |
Q8R3N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025137
AA Change: D596G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: D596G
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
| Camk2b |
C |
T |
11: 5,947,890 (GRCm39) |
D112N |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,695 (GRCm39) |
F175L |
probably benign |
Het |
| Ifi214 |
T |
C |
1: 173,356,891 (GRCm39) |
I71V |
probably damaging |
Het |
| Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
| Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,353 (GRCm39) |
S153P |
probably damaging |
Het |
| Lactb |
A |
T |
9: 66,878,180 (GRCm39) |
S216R |
probably damaging |
Het |
| Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
| Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
| Pjvk |
G |
T |
2: 76,486,259 (GRCm39) |
G220C |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
| Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
| Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
| Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,564,148 (GRCm39) |
Q116L |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,534,520 (GRCm39) |
S480P |
probably damaging |
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 |
|
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 |
|
|
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