Incidental Mutation 'R7080:Thoc6'
| ID |
549488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc6
|
| Ensembl Gene |
ENSMUSG00000041319 |
| Gene Name |
THO complex 6 |
| Synonyms |
Wdr58, F830014G06Rik |
| MMRRC Submission |
045174-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23887588-23892856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23892503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 6
(R6Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024697]
[ENSMUST00000024698]
[ENSMUST00000047436]
[ENSMUST00000062967]
[ENSMUST00000095579]
[ENSMUST00000115489]
[ENSMUST00000115490]
[ENSMUST00000138190]
[ENSMUST00000167059]
[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 benign
Transcript: ENSMUST00000024698
|
| SMART Domains |
Protein: ENSMUSP00000024698
Gene: ENSMUSG00000023905
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:stn_TNFRSF12A
|
1 |
129 |
4.7e-75 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000047436
|
| SMART Domains |
Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319
| 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 |
silent
Transcript: ENSMUST00000095579
|
| SMART Domains |
Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319
| 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 null
Transcript: ENSMUST00000115489
AA Change: R6Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319
AA Change: R6Q
| 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 null
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 |
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 |
silent
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: ENSMUST00000167059
|
| SMART Domains |
Protein: ENSMUSP00000131574
Gene: ENSMUSG00000023905
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:stn_TNFRSF12A
|
1 |
35 |
2.9e-13 |
PFAM |
|
Pfam:stn_TNFRSF12A
|
32 |
94 |
1.1e-33 |
PFAM |
|
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
94% (47/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,116 (GRCm39) |
E2162G |
probably benign |
Het |
| Ackr4 |
A |
G |
9: 103,976,761 (GRCm39) |
V62A |
probably damaging |
Het |
| Atox1 |
T |
A |
11: 55,341,365 (GRCm39) |
K57* |
probably null |
Het |
| Atp6v1e1 |
G |
A |
6: 120,799,350 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,906,842 (GRCm39) |
V645A |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,810,730 (GRCm39) |
T1602A |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,365,219 (GRCm39) |
V692A |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,935,551 (GRCm39) |
D388G |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,816,652 (GRCm39) |
R1764C |
possibly damaging |
Het |
| Copz2 |
G |
T |
11: 96,747,538 (GRCm39) |
V174L |
probably benign |
Het |
| Dnaaf1 |
T |
C |
8: 120,309,335 (GRCm39) |
L141P |
probably damaging |
Het |
| Fam170a |
T |
A |
18: 50,413,740 (GRCm39) |
|
probably null |
Het |
| Fshr |
A |
T |
17: 89,404,539 (GRCm39) |
|
probably null |
Het |
| Gbx1 |
C |
T |
5: 24,731,298 (GRCm39) |
A173T |
probably benign |
Het |
| Gm3604 |
G |
A |
13: 62,518,109 (GRCm39) |
A83V |
probably damaging |
Het |
| Gpr19 |
A |
T |
6: 134,847,419 (GRCm39) |
V88D |
probably damaging |
Het |
| Hnrnpd |
C |
T |
5: 100,124,392 (GRCm39) |
|
probably null |
Het |
| Homez |
T |
C |
14: 55,095,112 (GRCm39) |
S199G |
probably benign |
Het |
| Kit |
T |
C |
5: 75,767,941 (GRCm39) |
I108T |
probably damaging |
Het |
| Lrrc34 |
A |
C |
3: 30,688,705 (GRCm39) |
Y199D |
probably damaging |
Het |
| Mapk12 |
T |
C |
15: 89,017,350 (GRCm39) |
D208G |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,985 (GRCm39) |
D403G |
probably damaging |
Het |
| Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
| Nol11 |
G |
A |
11: 107,070,878 (GRCm39) |
T307I |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,444 (GRCm39) |
C208R |
probably damaging |
Het |
| Or52b4 |
A |
T |
7: 102,184,172 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,902,083 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or6d15 |
A |
T |
6: 116,559,314 (GRCm39) |
F198I |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,835 (GRCm39) |
L260* |
probably null |
Het |
| Pcdhb16 |
C |
T |
18: 37,611,516 (GRCm39) |
Q159* |
probably null |
Het |
| Phf19 |
G |
A |
2: 34,788,724 (GRCm39) |
|
probably null |
Het |
| Qrfpr |
C |
T |
3: 36,234,198 (GRCm39) |
R381H |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,506,366 (GRCm39) |
D96G |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,063,097 (GRCm39) |
D93G |
possibly damaging |
Het |
| Reep1 |
A |
G |
6: 71,757,749 (GRCm39) |
D116G |
possibly damaging |
Het |
| Rinl |
T |
C |
7: 28,496,101 (GRCm39) |
C361R |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,397,666 (GRCm39) |
D393G |
probably damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,541,216 (GRCm39) |
V357A |
probably benign |
Het |
| Spryd3 |
T |
C |
15: 102,026,627 (GRCm39) |
D348G |
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,099,501 (GRCm39) |
A569T |
probably benign |
Het |
| Tcstv5 |
T |
C |
13: 120,411,270 (GRCm39) |
D112G |
probably benign |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,171,926 (GRCm39) |
T918I |
unknown |
Het |
| Unc80 |
A |
T |
1: 66,685,680 (GRCm39) |
H2268L |
possibly damaging |
Het |
| Urod |
C |
T |
4: 116,849,838 (GRCm39) |
A187T |
probably damaging |
Het |
| Usp46 |
G |
T |
5: 74,177,344 (GRCm39) |
N205K |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,414,313 (GRCm39) |
F392L |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,305 (GRCm39) |
T453A |
possibly 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 |
|
|
R2894:Thoc6
|
UTSW |
17 |
23,888,009 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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'- TCCCGCACAGGAAAATGTAC -3'
(R):5'- TTTCTGTGGTTCGAGACAGCAC -3'
Sequencing Primer
(F):5'- ATGTACCAACATCTAATCCTTCAGTC -3'
(R):5'- TTCGAGACAGCACGGACCTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation