Incidental Mutation 'R4125:Thoc6'
ID |
315377 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc6
|
Ensembl Gene |
ENSMUSG00000041319 |
Gene Name |
THO complex 6 |
Synonyms |
Wdr58, F830014G06Rik |
MMRRC Submission |
041633-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4125 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
23887588-23892856 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 23888319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024697]
[ENSMUST00000047436]
[ENSMUST00000062967]
[ENSMUST00000095579]
[ENSMUST00000115489]
[ENSMUST00000115490]
[ENSMUST00000180140]
[ENSMUST00000179928]
[ENSMUST00000138190]
|
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: 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 |
probably benign
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 benign
Transcript: ENSMUST00000115489
|
SMART Domains |
Protein: ENSMUSP00000111152 Gene: ENSMUSG00000041319
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 |
unknown
Transcript: ENSMUST00000135259
AA Change: W161R
|
SMART Domains |
Protein: ENSMUSP00000119920 Gene: ENSMUSG00000041319 AA Change: W161R
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 |
noncoding transcript
Transcript: ENSMUST00000133849
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125443
|
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 |
|
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: 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (52/53) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
T |
A |
3: 98,068,679 (GRCm39) |
C43S |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,449,412 (GRCm39) |
Y274F |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
Atm |
A |
C |
9: 53,361,921 (GRCm39) |
L2732R |
probably damaging |
Het |
Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
Bmpr1a |
T |
C |
14: 34,156,690 (GRCm39) |
D112G |
probably benign |
Het |
Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,088,613 (GRCm39) |
I121V |
probably null |
Het |
Ctsr |
A |
T |
13: 61,309,659 (GRCm39) |
D183E |
probably benign |
Het |
Elp3 |
T |
C |
14: 65,797,630 (GRCm39) |
E347G |
possibly damaging |
Het |
Fhip1a |
A |
G |
3: 85,572,690 (GRCm39) |
S988P |
possibly damaging |
Het |
Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
Gramd2b |
T |
C |
18: 56,618,296 (GRCm39) |
S199P |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,188 (GRCm39) |
I90F |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,921,141 (GRCm39) |
H1313Q |
possibly damaging |
Het |
Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
Kansl2 |
G |
T |
15: 98,429,636 (GRCm39) |
P132Q |
possibly damaging |
Het |
Lman1 |
T |
C |
18: 66,120,932 (GRCm39) |
H430R |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,699,686 (GRCm39) |
I2511T |
probably benign |
Het |
Lvrn |
C |
A |
18: 47,010,036 (GRCm39) |
P395T |
possibly damaging |
Het |
Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
Nectin4 |
A |
G |
1: 171,213,301 (GRCm39) |
S408G |
probably benign |
Het |
Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
Or52ae9 |
T |
C |
7: 103,390,207 (GRCm39) |
K80R |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,873 (GRCm39) |
I417T |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,357,172 (GRCm39) |
T664A |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,056,962 (GRCm39) |
L4347Q |
probably damaging |
Het |
Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,942,690 (GRCm39) |
F1177L |
probably benign |
Het |
Pramel24 |
C |
T |
4: 143,452,850 (GRCm39) |
R94* |
probably null |
Het |
Ptprb |
A |
T |
10: 116,189,754 (GRCm39) |
R1804S |
probably benign |
Het |
Rhof |
C |
T |
5: 123,257,588 (GRCm39) |
V181M |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc22a12 |
T |
C |
19: 6,588,818 (GRCm39) |
E281G |
probably damaging |
Het |
Slco6b1 |
T |
A |
1: 96,915,622 (GRCm39) |
|
noncoding transcript |
Het |
Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
Tcof1 |
C |
A |
18: 60,952,673 (GRCm39) |
A898S |
unknown |
Het |
Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
Tnpo3 |
A |
G |
6: 29,560,091 (GRCm39) |
L684P |
probably damaging |
Het |
Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
Umps |
G |
A |
16: 33,777,288 (GRCm39) |
Q431* |
probably null |
Het |
Unc13c |
A |
G |
9: 73,481,289 (GRCm39) |
|
probably null |
Het |
Vmn1r210 |
A |
T |
13: 23,011,779 (GRCm39) |
M169K |
probably benign |
Het |
Zfp946 |
C |
T |
17: 22,673,548 (GRCm39) |
Q101* |
probably null |
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 |
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'- GATTGACACAACAGCCCTGG -3'
(R):5'- CGAAGTCTACAAGCATGAGGTG -3'
Sequencing Primer
(F):5'- TGGCCAGCAGACAGGATC -3'
(R):5'- TGAGGAGAGAGTGCGCCC -3'
|
Posted On |
2015-05-14 |