Incidental Mutation 'R9359:Thoc6'
| ID |
731345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc6
|
| Ensembl Gene |
ENSMUSG00000041319 |
| Gene Name |
THO complex 6 |
| Synonyms |
Wdr58, F830014G06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9359 (G1)
|
| Quality Score |
78.0075 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23887588-23892856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23887823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 328
(V328A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038137
(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 |
possibly damaging
Transcript: ENSMUST00000047436
AA Change: V328A
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319
AA Change: V328A
| 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 |
possibly damaging
Transcript: ENSMUST00000095579
AA Change: V328A
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319
AA Change: V328A
| 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 |
possibly damaging
Transcript: ENSMUST00000115489
AA Change: V324A
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319
AA Change: V324A
| 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 |
possibly damaging
Transcript: ENSMUST00000115490
AA Change: V283A
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319
AA Change: V283A
| 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 |
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: 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: 99.5%
|
| Validation Efficiency |
100% (45/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
C |
T |
2: 151,780,892 (GRCm39) |
T380M |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,537,172 (GRCm39) |
N60K |
probably damaging |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,048 (GRCm39) |
T245I |
probably benign |
Het |
| Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
T |
C |
4: 95,950,170 (GRCm39) |
D277G |
probably damaging |
Het |
| Def8 |
A |
T |
8: 124,185,105 (GRCm39) |
I310F |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,171,927 (GRCm39) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,770,125 (GRCm39) |
V1795A |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,381,605 (GRCm39) |
T790A |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,914,425 (GRCm39) |
R453Q |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpld1 |
G |
A |
13: 25,163,712 (GRCm39) |
V502I |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,191,966 (GRCm39) |
H29R |
probably benign |
Het |
| Insr |
G |
C |
8: 3,208,717 (GRCm39) |
P1248R |
probably damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,840,663 (GRCm39) |
D349N |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,156,004 (GRCm39) |
I990N |
possibly damaging |
Het |
| Malrd1 |
T |
C |
2: 15,618,988 (GRCm39) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,532,969 (GRCm39) |
Q728* |
probably null |
Het |
| Mex3d |
A |
T |
10: 80,217,581 (GRCm39) |
N545K |
|
Het |
| Mios |
T |
A |
6: 8,214,894 (GRCm39) |
V30E |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,449,060 (GRCm39) |
|
probably null |
Het |
| Naxd |
A |
G |
8: 11,562,968 (GRCm39) |
K303E |
possibly damaging |
Het |
| Or2w1 |
T |
C |
13: 21,317,865 (GRCm39) |
F307L |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,906 (GRCm39) |
T32A |
probably benign |
Het |
| Or5a21 |
T |
A |
19: 12,310,803 (GRCm39) |
H139L |
possibly damaging |
Het |
| Or9q2 |
C |
T |
19: 13,772,200 (GRCm39) |
M258I |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
| Ptgdr |
A |
G |
14: 45,090,715 (GRCm39) |
S348P |
|
Het |
| Ptpdc1 |
T |
A |
13: 48,740,030 (GRCm39) |
E467V |
probably benign |
Het |
| Qsox1 |
A |
G |
1: 155,658,343 (GRCm39) |
S409P |
probably damaging |
Het |
| Rfx4 |
A |
G |
10: 84,740,921 (GRCm39) |
T680A |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,949,970 (GRCm39) |
T371A |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,583,669 (GRCm39) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 96,990,248 (GRCm39) |
S664R |
possibly damaging |
Het |
| Tbxa2r |
A |
G |
10: 81,168,958 (GRCm39) |
S216G |
probably damaging |
Het |
| Tgm4 |
C |
A |
9: 122,881,837 (GRCm39) |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,467,228 (GRCm39) |
Q11L |
probably damaging |
Het |
| Txndc2 |
G |
A |
17: 65,944,992 (GRCm39) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,859 (GRCm39) |
E15G |
probably benign |
Het |
| Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
| Uspl1 |
G |
A |
5: 149,146,481 (GRCm39) |
V411M |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,816,049 (GRCm39) |
I778T |
possibly damaging |
Het |
| Vps54 |
A |
G |
11: 21,242,108 (GRCm39) |
T408A |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCTAAGCGCCAGGTCC -3'
(R):5'- CAATCACTGGCAACTGAGCG -3'
Sequencing Primer
(F):5'- GCTGAATGTAACGGTTCACC -3'
(R):5'- AGCTTAAGGCCCAGGTGC -3'
|
| Posted On |
2022-11-04 |
Incidental Mutation