Incidental Mutation 'IGL01313:Thoc1'
| ID |
73752 |
| 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 # |
IGL01313
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
9958176-9995486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9987158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 433
(I433F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025137]
|
| AlphaFold |
Q8R3N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025137
AA Change: I433F
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: I433F
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,621,969 (GRCm39) |
|
probably null |
Het |
| Abca7 |
T |
A |
10: 79,838,957 (GRCm39) |
|
probably benign |
Het |
| Acvr1c |
T |
G |
2: 58,205,986 (GRCm39) |
Q41H |
probably benign |
Het |
| Apob |
A |
T |
12: 8,050,898 (GRCm39) |
N1041Y |
probably damaging |
Het |
| Asb5 |
A |
T |
8: 55,038,798 (GRCm39) |
|
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,516 (GRCm39) |
E835V |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,737,972 (GRCm39) |
M23L |
probably benign |
Het |
| Cep170b |
G |
A |
12: 112,702,086 (GRCm39) |
R293H |
probably damaging |
Het |
| Chd8 |
C |
A |
14: 52,448,032 (GRCm39) |
L316F |
probably damaging |
Het |
| Cldn13 |
T |
C |
5: 134,944,114 (GRCm39) |
S24G |
possibly damaging |
Het |
| Cnot10 |
A |
T |
9: 114,460,923 (GRCm39) |
N82K |
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,323,157 (GRCm39) |
V127M |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,478 (GRCm39) |
S130G |
unknown |
Het |
| Ddx60 |
T |
A |
8: 62,435,560 (GRCm39) |
H904Q |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,362 (GRCm39) |
S435T |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,979,974 (GRCm39) |
N177S |
possibly damaging |
Het |
| F5 |
G |
T |
1: 164,021,181 (GRCm39) |
V1219L |
probably benign |
Het |
| Fam47c |
G |
T |
X: 77,781,454 (GRCm39) |
R12L |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,350 (GRCm39) |
I4311T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,907 (GRCm39) |
V545A |
probably benign |
Het |
| Fhod3 |
G |
A |
18: 25,153,777 (GRCm39) |
E420K |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,589 (GRCm39) |
K162E |
probably damaging |
Het |
| Insl6 |
C |
A |
19: 29,298,953 (GRCm39) |
S153I |
possibly damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,141,708 (GRCm39) |
Y317C |
probably damaging |
Het |
| Lzts1 |
C |
A |
8: 69,591,759 (GRCm39) |
V130L |
probably benign |
Het |
| Mill1 |
T |
C |
7: 17,998,558 (GRCm39) |
I256T |
possibly damaging |
Het |
| Mycbpap |
A |
C |
11: 94,400,145 (GRCm39) |
|
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,603,464 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pdia6 |
T |
A |
12: 17,320,542 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
C |
T |
1: 132,999,369 (GRCm39) |
Q406* |
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,271,248 (GRCm39) |
G3102C |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,561,607 (GRCm39) |
I1122N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,653,371 (GRCm39) |
|
probably null |
Het |
| Samhd1 |
A |
G |
2: 156,958,321 (GRCm39) |
I300T |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,662,361 (GRCm39) |
I609F |
unknown |
Het |
| Slc27a3 |
G |
T |
3: 90,293,861 (GRCm39) |
T541K |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,075 (GRCm39) |
V2154A |
probably damaging |
Het |
| Thoc2 |
A |
T |
X: 40,916,223 (GRCm39) |
V865D |
probably benign |
Het |
| Trdn |
C |
A |
10: 33,076,216 (GRCm39) |
P282Q |
probably damaging |
Het |
| Twsg1 |
C |
A |
17: 66,255,699 (GRCm39) |
C25F |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,423,206 (GRCm39) |
I3155N |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,498,651 (GRCm39) |
Q420L |
probably damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,770,419 (GRCm39) |
R523K |
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 |
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation