Incidental Mutation 'R6496:Thoc7'
| ID |
523039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc7
|
| Ensembl Gene |
ENSMUSG00000053453 |
| Gene Name |
THO complex 7 |
| Synonyms |
9230101K24Rik, 1500006O09Rik |
| MMRRC Submission |
044628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R6496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
8507911-8520751 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13954593 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 28
(N28S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065865]
[ENSMUST00000223832]
[ENSMUST00000225325]
[ENSMUST00000225891]
|
| AlphaFold |
Q7TMY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065865
AA Change: N28S
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065819
Gene: ENSMUSG00000053453
AA Change: N28S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THOC7
|
7 |
139 |
9.3e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223832
AA Change: N28S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225202
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225325
AA Change: N24S
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225891
AA Change: N28S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225559
AA Change: N10S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226008
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225317
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,839,199 (GRCm39) |
C676S |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
| Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
| Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
| Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,375,716 (GRCm39) |
S611P |
possibly damaging |
Het |
| Fam217a |
G |
A |
13: 35,094,785 (GRCm39) |
R234* |
probably null |
Het |
| Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
| Kera |
T |
A |
10: 97,448,672 (GRCm39) |
N297K |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
| Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
| Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,709 (GRCm39) |
F605S |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
| Potefam1 |
T |
A |
2: 110,994,817 (GRCm39) |
H232L |
unknown |
Het |
| Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
| Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
| Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
possibly damaging |
Het |
|
| Other mutations in Thoc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01544:Thoc7
|
APN |
14 |
13,953,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02630:Thoc7
|
APN |
14 |
13,953,154 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02737:Thoc7
|
APN |
14 |
13,953,443 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0526:Thoc7
|
UTSW |
14 |
13,949,282 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4917:Thoc7
|
UTSW |
14 |
13,953,154 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4918:Thoc7
|
UTSW |
14 |
13,953,154 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4960:Thoc7
|
UTSW |
14 |
13,953,460 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7024:Thoc7
|
UTSW |
14 |
13,953,528 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7500:Thoc7
|
UTSW |
14 |
13,951,204 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7619:Thoc7
|
UTSW |
14 |
13,961,819 (GRCm38) |
start gained |
probably null |
|
|
Z1177:Thoc7
|
UTSW |
14 |
13,954,585 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGATCAGTCTAGAGGTGGC -3'
(R):5'- GGCAGATATACCTTGGACAATCAC -3'
Sequencing Primer
(F):5'- CCGCACTGGACAGATAAGGTAAATTG -3'
(R):5'- GTGTTCACCTCAACTGATGGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation