Incidental Mutation 'IGL02531:Thoc1'
| ID |
297314 |
| 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 # |
IGL02531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
9958176-9995486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9970258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 203
(T203A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025137]
|
| AlphaFold |
Q8R3N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025137
AA Change: T203A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: T203A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:efThoc1
|
69 |
546 |
7.2e-149 |
PFAM |
|
DEATH
|
560 |
653 |
1.27e-24 |
SMART |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
C |
A |
6: 86,933,429 (GRCm39) |
H467N |
unknown |
Het |
| Alb |
A |
G |
5: 90,615,307 (GRCm39) |
D273G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,122,804 (GRCm39) |
S531P |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,884,873 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,702,307 (GRCm39) |
K59R |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,854,134 (GRCm39) |
R1902H |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2b13 |
A |
T |
7: 25,761,030 (GRCm39) |
H29L |
possibly damaging |
Het |
| Enpp5 |
G |
T |
17: 44,391,843 (GRCm39) |
V91F |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,194,675 (GRCm39) |
Y176H |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,282 (GRCm39) |
E607G |
possibly damaging |
Het |
| Hhla1 |
C |
T |
15: 65,839,256 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,928,782 (GRCm39) |
T178A |
probably benign |
Het |
| Klf1 |
T |
A |
8: 85,631,437 (GRCm39) |
F334I |
probably damaging |
Het |
| Klra8 |
A |
G |
6: 130,095,933 (GRCm39) |
S220P |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,616 (GRCm39) |
N99S |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,216,853 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Mug2 |
T |
G |
6: 122,049,730 (GRCm39) |
L921R |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,548,580 (GRCm39) |
N1385D |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,067,706 (GRCm39) |
F1983L |
probably benign |
Het |
| Nipal4 |
T |
C |
11: 46,042,152 (GRCm39) |
I176M |
probably damaging |
Het |
| Orc6 |
T |
C |
8: 86,029,998 (GRCm39) |
S47P |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,389,405 (GRCm39) |
C341Y |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,882,736 (GRCm39) |
H1633Q |
possibly damaging |
Het |
| Rab23 |
T |
C |
1: 33,777,361 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,868 (GRCm39) |
S697P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,327,628 (GRCm39) |
F1872L |
probably benign |
Het |
| Sdhc |
T |
C |
1: 170,963,587 (GRCm39) |
H127R |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,942,095 (GRCm39) |
V74A |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,875,748 (GRCm39) |
S596P |
possibly damaging |
Het |
| Syt14 |
T |
C |
1: 192,584,242 (GRCm39) |
*78W |
probably null |
Het |
| Trmt13 |
A |
G |
3: 116,385,840 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,373,716 (GRCm39) |
I1020V |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,134 (GRCm39) |
T336A |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation