Incidental Mutation 'R6639:Thoc6'
| ID |
525687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc6
|
| Ensembl Gene |
ENSMUSG00000041319 |
| Gene Name |
THO complex 6 |
| Synonyms |
Wdr58, F830014G06Rik |
| MMRRC Submission |
044760-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23887588-23892856 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 23889428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024697]
[ENSMUST00000024698]
[ENSMUST00000047436]
[ENSMUST00000062967]
[ENSMUST00000095579]
[ENSMUST00000115489]
[ENSMUST00000115490]
[ENSMUST00000138190]
[ENSMUST00000179928]
[ENSMUST00000180140]
[ENSMUST00000167059]
|
| AlphaFold |
Q5U4D9 |
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000047436
AA Change: K107*
|
| SMART Domains |
Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319
AA Change: K107*
| 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 null
Transcript: ENSMUST00000095579
AA Change: K107*
|
| SMART Domains |
Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319
AA Change: K107*
| 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: K103*
|
| SMART Domains |
Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319
AA Change: K103*
| 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
AA Change: K107*
|
| SMART Domains |
Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319
AA Change: K107*
| 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 null
Transcript: ENSMUST00000135259
AA Change: K19*
|
| SMART Domains |
Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319
AA Change: K19*
| 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 null
Transcript: ENSMUST00000138190
AA Change: K107*
|
| SMART Domains |
Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319
AA Change: K107*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
6e-20 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000180140
|
| SMART Domains |
Protein: ENSMUSP00000137336
Gene: ENSMUSG00000023904
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HPIP
|
2 |
116 |
2.9e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133849
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| 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 |
|---|
| Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,179,152 (GRCm39) |
V940I |
probably benign |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
| Depdc7 |
C |
T |
2: 104,555,098 (GRCm39) |
D271N |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
| Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
| Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
| Hdac4 |
A |
T |
1: 91,898,670 (GRCm39) |
C695S |
probably damaging |
Het |
| Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,567,562 (GRCm39) |
D207G |
possibly damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
| Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
| Or1n2 |
G |
A |
2: 36,797,690 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
| Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,539,930 (GRCm39) |
M93V |
probably benign |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
| Zfp383 |
T |
C |
7: 29,614,152 (GRCm39) |
S136P |
probably benign |
Het |
| Zfp748 |
T |
C |
13: 67,691,024 (GRCm39) |
K79E |
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 |
|
|
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 |
|
|
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'- GATTTCGGGTACTTCCAGACTG -3'
(R):5'- AGAGTGGTTCAGGTGACCTC -3'
Sequencing Primer
(F):5'- ACTTCCAGACTGGTCCTAGGTG -3'
(R):5'- TTCAGGTGACCTCAGGAGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation