Incidental Mutation 'R7379:Thoc1'
ID |
572598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc1
|
Ensembl Gene |
ENSMUSG00000024287 |
Gene Name |
THO complex 1 |
Synonyms |
NMP-84, 3110002N20Rik |
MMRRC Submission |
045461-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7379 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
9958176-9995486 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9992902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 558
(N558I)
|
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: N558I
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000025137 Gene: ENSMUSG00000024287 AA Change: N558I
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 |
|
Meta Mutation Damage Score |
0.0773 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (48/48) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd12 |
G |
A |
17: 66,292,242 (GRCm39) |
R1064* |
probably null |
Het |
Ccdc149 |
A |
G |
5: 52,562,408 (GRCm39) |
I206T |
probably damaging |
Het |
Ctu1 |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
7: 43,326,490 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,414,183 (GRCm39) |
T361A |
probably damaging |
Het |
Cyp4a14 |
A |
T |
4: 115,350,907 (GRCm39) |
|
probably null |
Het |
Cyp7b1 |
A |
G |
3: 18,151,538 (GRCm39) |
V225A |
probably benign |
Het |
Esf1 |
A |
G |
2: 139,996,854 (GRCm39) |
I503T |
probably benign |
Het |
Flrt2 |
G |
A |
12: 95,747,329 (GRCm39) |
V556I |
possibly damaging |
Het |
Gaa |
T |
C |
11: 119,174,525 (GRCm39) |
S791P |
probably benign |
Het |
H2-T22 |
A |
G |
17: 36,353,232 (GRCm39) |
|
probably null |
Het |
Hexb |
A |
G |
13: 97,317,672 (GRCm39) |
S342P |
probably damaging |
Het |
Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
Ift57 |
A |
G |
16: 49,581,357 (GRCm39) |
E341G |
probably damaging |
Het |
Itpkc |
A |
T |
7: 26,927,194 (GRCm39) |
I240K |
probably benign |
Het |
Kit |
A |
T |
5: 75,808,412 (GRCm39) |
S719C |
probably damaging |
Het |
Klf1 |
T |
A |
8: 85,629,846 (GRCm39) |
Y224N |
possibly damaging |
Het |
Krt77 |
T |
C |
15: 101,769,709 (GRCm39) |
E387G |
probably damaging |
Het |
L3mbtl1 |
T |
A |
2: 162,802,899 (GRCm39) |
D347E |
probably damaging |
Het |
Map1s |
A |
G |
8: 71,366,219 (GRCm39) |
T375A |
possibly damaging |
Het |
Mturn |
A |
G |
6: 54,666,069 (GRCm39) |
T81A |
possibly damaging |
Het |
Mug2 |
A |
G |
6: 122,024,446 (GRCm39) |
E506G |
possibly damaging |
Het |
Notch1 |
A |
G |
2: 26,369,479 (GRCm39) |
F512S |
probably damaging |
Het |
Or10g1 |
T |
C |
14: 52,647,718 (GRCm39) |
T204A |
probably benign |
Het |
Or12e13 |
T |
A |
2: 87,664,123 (GRCm39) |
C247S |
probably damaging |
Het |
Or4c12b |
T |
A |
2: 89,647,033 (GRCm39) |
V115E |
probably benign |
Het |
Or9s14 |
G |
T |
1: 92,536,189 (GRCm39) |
C210F |
possibly damaging |
Het |
Pcdhga10 |
A |
G |
18: 37,880,619 (GRCm39) |
N127D |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,502,983 (GRCm39) |
I1148V |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,212,430 (GRCm39) |
D1007G |
probably benign |
Het |
Prdm16 |
T |
A |
4: 154,613,316 (GRCm39) |
E37V |
probably damaging |
Het |
Prss45 |
C |
A |
9: 110,668,261 (GRCm39) |
N151K |
possibly damaging |
Het |
Rngtt |
A |
T |
4: 33,498,981 (GRCm39) |
K513* |
probably null |
Het |
Serpinb10 |
T |
C |
1: 107,460,117 (GRCm39) |
|
probably benign |
Het |
Shc1 |
T |
C |
3: 89,334,129 (GRCm39) |
V402A |
probably benign |
Het |
Slc25a38 |
T |
A |
9: 119,949,902 (GRCm39) |
L227Q |
probably benign |
Het |
Slc6a13 |
A |
T |
6: 121,313,798 (GRCm39) |
K514* |
probably null |
Het |
Sorcs3 |
T |
C |
19: 48,760,705 (GRCm39) |
V911A |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,657,651 (GRCm39) |
I1290N |
probably damaging |
Het |
Sptbn1 |
T |
C |
11: 30,089,292 (GRCm39) |
K657E |
possibly damaging |
Het |
Stpg4 |
T |
A |
17: 87,735,068 (GRCm39) |
|
probably null |
Het |
Stx2 |
A |
G |
5: 129,064,863 (GRCm39) |
V278A |
possibly damaging |
Het |
Trpm2 |
T |
C |
10: 77,750,568 (GRCm39) |
T1343A |
probably benign |
Het |
Usf3 |
T |
A |
16: 44,040,939 (GRCm39) |
D1806E |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,037 (GRCm39) |
M787I |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,873,566 (GRCm39) |
S248P |
|
Het |
Zeb2 |
G |
T |
2: 44,891,829 (GRCm39) |
|
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCTTAGACAGTACTGCCTAAAG -3'
(R):5'- AAGCTCTGCTGTAAAACACCTTTC -3'
Sequencing Primer
(F):5'- AGACAGTACTGCCTAAAGCTTAG -3'
(R):5'- GCTGTAAAACACCTTTCTTCTTTAC -3'
|
Posted On |
2019-09-13 |