Incidental Mutation 'R8464:Ttc27'
| ID |
656728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc27
|
| Ensembl Gene |
ENSMUSG00000024078 |
| Gene Name |
tetratricopeptide repeat domain 27 |
| Synonyms |
2610511O17Rik |
| MMRRC Submission |
067908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R8464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75024925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 7
(T7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
| AlphaFold |
Q8CD92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024882
AA Change: T7A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: T7A
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
531 |
564 |
7.34e-3 |
SMART |
|
TPR
|
565 |
598 |
5.56e-3 |
SMART |
|
TPR
|
599 |
632 |
3.81e-1 |
SMART |
|
Blast:TPR
|
633 |
666 |
7e-15 |
BLAST |
|
coiled coil region
|
817 |
847 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,934 (GRCm39) |
R1344G |
possibly damaging |
Het |
| 4933402J07Rik |
C |
A |
8: 88,315,649 (GRCm39) |
D246E |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,674,985 (GRCm39) |
K191* |
probably null |
Het |
| Bptf |
T |
C |
11: 107,022,168 (GRCm39) |
D194G |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,389,206 (GRCm39) |
V223A |
probably damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,649,824 (GRCm39) |
K208E |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,811,465 (GRCm39) |
V813A |
probably benign |
Het |
| Chst14 |
T |
C |
2: 118,757,524 (GRCm39) |
V131A |
probably benign |
Het |
| Ctla4 |
A |
G |
1: 60,951,686 (GRCm39) |
T72A |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,949,635 (GRCm39) |
S531P |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,348,785 (GRCm39) |
I531V |
probably benign |
Het |
| Fam151a |
T |
A |
4: 106,605,102 (GRCm39) |
M488K |
probably benign |
Het |
| Foxa1 |
C |
A |
12: 57,589,246 (GRCm39) |
A325S |
probably benign |
Het |
| Ighv8-5 |
C |
T |
12: 115,031,309 (GRCm39) |
D77N |
probably benign |
Het |
| Itga3 |
C |
A |
11: 94,953,566 (GRCm39) |
A259S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,648,010 (GRCm39) |
N118D |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,225,381 (GRCm39) |
N216K |
probably damaging |
Het |
| Lipo2 |
C |
T |
19: 33,726,023 (GRCm39) |
M76I |
probably benign |
Het |
| Man2b1 |
G |
A |
8: 85,820,772 (GRCm39) |
A657T |
possibly damaging |
Het |
| Mms19 |
A |
C |
19: 41,935,522 (GRCm39) |
D831E |
probably damaging |
Het |
| Muc21 |
T |
G |
17: 35,933,098 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,554,453 (GRCm39) |
A808S |
probably benign |
Het |
| Myo7b |
A |
T |
18: 32,095,757 (GRCm39) |
W1834R |
probably benign |
Het |
| Mypn |
T |
A |
10: 62,966,977 (GRCm39) |
K900* |
probably null |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
G |
T |
2: 89,968,947 (GRCm39) |
H179N |
possibly damaging |
Het |
| Or4k40 |
A |
G |
2: 111,251,192 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,558,783 (GRCm39) |
I210N |
possibly damaging |
Het |
| Osgepl1 |
A |
G |
1: 53,357,299 (GRCm39) |
T154A |
probably damaging |
Het |
| Pacsin2 |
A |
T |
15: 83,263,384 (GRCm39) |
Y82* |
probably null |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,348 (GRCm39) |
Y104H |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,332,726 (GRCm39) |
S857G |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,396,625 (GRCm39) |
I89M |
probably damaging |
Het |
| Sdhd |
T |
C |
9: 50,508,431 (GRCm39) |
H145R |
probably benign |
Het |
| Selenov |
C |
T |
7: 27,987,897 (GRCm39) |
R260Q |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,580,898 (GRCm39) |
E483G |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,345,079 (GRCm39) |
Y1021* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,012,546 (GRCm39) |
A2580V |
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,180,924 (GRCm39) |
E219G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,512,423 (GRCm39) |
K111R |
probably damaging |
Het |
|
| Other mutations in Ttc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Ttc27
|
APN |
17 |
75,087,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01508:Ttc27
|
APN |
17 |
75,142,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02010:Ttc27
|
APN |
17 |
75,087,906 (GRCm39) |
splice site |
probably benign |
|
|
IGL02189:Ttc27
|
APN |
17 |
75,036,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02487:Ttc27
|
APN |
17 |
75,163,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02745:Ttc27
|
APN |
17 |
75,046,728 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02816:Ttc27
|
APN |
17 |
75,054,769 (GRCm39) |
splice site |
probably benign |
|
|
IGL03389:Ttc27
|
APN |
17 |
75,165,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0024:Ttc27
|
UTSW |
17 |
75,077,259 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0511:Ttc27
|
UTSW |
17 |
75,025,710 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0518:Ttc27
|
UTSW |
17 |
75,163,544 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0521:Ttc27
|
UTSW |
17 |
75,163,544 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0633:Ttc27
|
UTSW |
17 |
75,036,972 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1415:Ttc27
|
UTSW |
17 |
75,046,667 (GRCm39) |
missense |
probably benign |
|
|
R1597:Ttc27
|
UTSW |
17 |
75,170,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1961:Ttc27
|
UTSW |
17 |
75,087,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2038:Ttc27
|
UTSW |
17 |
75,163,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3012:Ttc27
|
UTSW |
17 |
75,147,454 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3619:Ttc27
|
UTSW |
17 |
75,058,123 (GRCm39) |
splice site |
probably null |
|
|
R4155:Ttc27
|
UTSW |
17 |
75,147,455 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4272:Ttc27
|
UTSW |
17 |
75,147,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Ttc27
|
UTSW |
17 |
75,163,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4557:Ttc27
|
UTSW |
17 |
75,136,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5068:Ttc27
|
UTSW |
17 |
75,106,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Ttc27
|
UTSW |
17 |
75,106,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Ttc27
|
UTSW |
17 |
75,106,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Ttc27
|
UTSW |
17 |
75,054,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Ttc27
|
UTSW |
17 |
75,054,690 (GRCm39) |
nonsense |
probably null |
|
|
R5203:Ttc27
|
UTSW |
17 |
75,084,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Ttc27
|
UTSW |
17 |
75,049,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Ttc27
|
UTSW |
17 |
75,165,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6797:Ttc27
|
UTSW |
17 |
75,036,883 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6830:Ttc27
|
UTSW |
17 |
75,163,550 (GRCm39) |
nonsense |
probably null |
|
|
R6987:Ttc27
|
UTSW |
17 |
75,084,736 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7121:Ttc27
|
UTSW |
17 |
75,054,710 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7393:Ttc27
|
UTSW |
17 |
75,077,259 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7543:Ttc27
|
UTSW |
17 |
75,024,745 (GRCm39) |
start gained |
probably benign |
|
|
R7635:Ttc27
|
UTSW |
17 |
75,025,710 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8231:Ttc27
|
UTSW |
17 |
75,024,959 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8365:Ttc27
|
UTSW |
17 |
75,054,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Ttc27
|
UTSW |
17 |
75,050,047 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8687:Ttc27
|
UTSW |
17 |
75,046,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Ttc27
|
UTSW |
17 |
75,163,432 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTAGAAGGAAGCTGCTC -3'
(R):5'- AGCGAAACTCCCTCACTCTTG -3'
Sequencing Primer
(F):5'- CATGATGCTCTGCGTTGC -3'
(R):5'- TGACACCTCCTATGTACCCAGGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation