Incidental Mutation 'R2894:Thoc6'
| ID |
260720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc6
|
| Ensembl Gene |
ENSMUSG00000041319 |
| Gene Name |
THO complex 6 |
| Synonyms |
Wdr58, F830014G06Rik |
| MMRRC Submission |
040482-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2894 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23887588-23892856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23888009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 292
(S292P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024697]
[ENSMUST00000047436]
[ENSMUST00000062967]
[ENSMUST00000095579]
[ENSMUST00000115489]
[ENSMUST00000115490]
[ENSMUST00000138190]
[ENSMUST00000179928]
[ENSMUST00000180140]
|
| AlphaFold |
Q5U4D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024697
|
| SMART Domains |
Protein: ENSMUSP00000024697
Gene: ENSMUSG00000023904
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HPIP
|
2 |
116 |
7e-72 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047436
AA Change: S296P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319
AA Change: S296P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
2e-18 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
Blast:WD40
|
119 |
154 |
1e-11 |
BLAST |
|
WD40
|
157 |
196 |
1.28e-6 |
SMART |
|
Blast:WD40
|
200 |
245 |
2e-25 |
BLAST |
|
WD40
|
248 |
284 |
7.36e1 |
SMART |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062967
|
| SMART Domains |
Protein: ENSMUSP00000053808
Gene: ENSMUSG00000043782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
coiled coil region
|
63 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
312 |
N/A |
INTRINSIC |
|
coiled coil region
|
354 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095579
AA Change: S296P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319
AA Change: S296P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
2e-18 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
Blast:WD40
|
119 |
154 |
1e-11 |
BLAST |
|
WD40
|
157 |
196 |
1.28e-6 |
SMART |
|
Blast:WD40
|
200 |
245 |
2e-25 |
BLAST |
|
WD40
|
248 |
284 |
7.36e1 |
SMART |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115489
AA Change: S292P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319
AA Change: S292P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
11 |
47 |
6e-18 |
BLAST |
|
WD40
|
61 |
97 |
2.67e-1 |
SMART |
|
Blast:WD40
|
115 |
150 |
8e-12 |
BLAST |
|
WD40
|
153 |
192 |
1.28e-6 |
SMART |
|
Blast:WD40
|
196 |
241 |
3e-25 |
BLAST |
|
WD40
|
244 |
280 |
7.36e1 |
SMART |
|
low complexity region
|
290 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115490
|
| SMART Domains |
Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
7e-19 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
Blast:WD40
|
119 |
154 |
6e-12 |
BLAST |
|
WD40
|
157 |
196 |
1.28e-6 |
SMART |
|
Blast:WD40
|
200 |
245 |
8e-26 |
BLAST |
|
Blast:WD40
|
248 |
279 |
4e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138190
|
| SMART Domains |
Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
6e-20 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135259
|
| SMART Domains |
Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
32 |
67 |
9e-13 |
BLAST |
|
WD40
|
70 |
109 |
1.28e-6 |
SMART |
|
Blast:WD40
|
113 |
186 |
4e-20 |
BLAST |
|
Blast:WD40
|
189 |
209 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179928
|
| SMART Domains |
Protein: ENSMUSP00000137205
Gene: ENSMUSG00000023904
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HPIP
|
2 |
112 |
3.3e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180140
|
| SMART Domains |
Protein: ENSMUSP00000137336
Gene: ENSMUSG00000023904
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HPIP
|
2 |
116 |
2.9e-58 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
C |
A |
11: 83,554,329 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
| Cenpu |
C |
A |
8: 47,029,384 (GRCm39) |
N212K |
probably damaging |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,020,718 (GRCm39) |
E1217V |
possibly damaging |
Het |
| Dusp15 |
T |
C |
2: 152,791,005 (GRCm39) |
I31V |
probably benign |
Het |
| Ern2 |
A |
C |
7: 121,780,810 (GRCm39) |
S114A |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fmo6 |
C |
T |
1: 162,750,293 (GRCm39) |
W254* |
probably null |
Het |
| Gm16494 |
T |
C |
17: 47,327,632 (GRCm39) |
E84G |
unknown |
Het |
| Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Mdga1 |
T |
C |
17: 30,071,478 (GRCm39) |
Y381C |
probably damaging |
Het |
| Msh3 |
G |
T |
13: 92,478,868 (GRCm39) |
A367D |
probably benign |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or51e1 |
A |
G |
7: 102,358,882 (GRCm39) |
T139A |
probably damaging |
Het |
| Or7g29 |
A |
T |
9: 19,286,588 (GRCm39) |
Y196* |
probably null |
Het |
| Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,675,692 (GRCm39) |
M378K |
probably damaging |
Het |
| Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
| Rarb |
T |
C |
14: 16,435,146 (GRCm38) |
D300G |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,456,114 (GRCm39) |
R63W |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,663,916 (GRCm39) |
N77S |
probably benign |
Het |
| Slc22a19 |
C |
A |
19: 7,670,169 (GRCm39) |
K228N |
probably benign |
Het |
| Tmem126b |
A |
T |
7: 90,120,121 (GRCm39) |
S83R |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,408 (GRCm39) |
E262K |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,785,220 (GRCm39) |
V144A |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,275,578 (GRCm39) |
N787S |
probably damaging |
Het |
|
| Other mutations in Thoc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01681:Thoc6
|
APN |
17 |
23,888,857 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
PIT4382001:Thoc6
|
UTSW |
17 |
23,887,841 (GRCm39) |
missense |
probably benign |
|
|
R0100:Thoc6
|
UTSW |
17 |
23,888,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Thoc6
|
UTSW |
17 |
23,889,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0448:Thoc6
|
UTSW |
17 |
23,888,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1324:Thoc6
|
UTSW |
17 |
23,896,437 (GRCm39) |
splice site |
probably null |
|
|
R1917:Thoc6
|
UTSW |
17 |
23,888,364 (GRCm39) |
unclassified |
probably benign |
|
|
R4125:Thoc6
|
UTSW |
17 |
23,888,319 (GRCm39) |
unclassified |
probably benign |
|
|
R4765:Thoc6
|
UTSW |
17 |
23,889,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Thoc6
|
UTSW |
17 |
23,889,041 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4962:Thoc6
|
UTSW |
17 |
23,888,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5527:Thoc6
|
UTSW |
17 |
23,889,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Thoc6
|
UTSW |
17 |
23,889,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5965:Thoc6
|
UTSW |
17 |
23,889,842 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6232:Thoc6
|
UTSW |
17 |
23,889,295 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6639:Thoc6
|
UTSW |
17 |
23,889,428 (GRCm39) |
splice site |
probably null |
|
|
R7080:Thoc6
|
UTSW |
17 |
23,892,503 (GRCm39) |
missense |
probably null |
|
|
R7133:Thoc6
|
UTSW |
17 |
23,892,634 (GRCm39) |
splice site |
probably null |
|
|
R7473:Thoc6
|
UTSW |
17 |
23,889,841 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9025:Thoc6
|
UTSW |
17 |
23,888,862 (GRCm39) |
missense |
|
|
|
R9359:Thoc6
|
UTSW |
17 |
23,887,823 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAAAGACATCTACTCGACAGC -3'
(R):5'- TCCTATTCGAGCACCACAGAAG -3'
Sequencing Primer
(F):5'- AGACATCTACTCGACAGCTGTTG -3'
(R):5'- GCACGTCACCTTCTACCAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation