Incidental Mutation 'R3012:Ttc27'
| ID |
257550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc27
|
| Ensembl Gene |
ENSMUSG00000024078 |
| Gene Name |
tetratricopeptide repeat domain 27 |
| Synonyms |
2610511O17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R3012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75147454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 669
(I669F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
| AlphaFold |
Q8CD92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024882
AA Change: I669F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: I669F
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
G |
T |
19: 40,546,135 (GRCm39) |
Y585* |
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,378,727 (GRCm39) |
P2563S |
probably damaging |
Het |
| Atg10 |
A |
T |
13: 91,302,397 (GRCm39) |
F47Y |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,668,579 (GRCm39) |
D535G |
probably damaging |
Het |
| Dennd11 |
T |
C |
6: 40,412,926 (GRCm39) |
E45G |
probably benign |
Het |
| Dgat1 |
T |
A |
15: 76,387,593 (GRCm39) |
Q308H |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,377,318 (GRCm39) |
I1701T |
possibly damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Fes |
G |
C |
7: 80,036,915 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gria1 |
G |
A |
11: 57,180,260 (GRCm39) |
V737M |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,453,319 (GRCm39) |
H84R |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,136 (GRCm39) |
|
probably null |
Het |
| Il15 |
T |
A |
8: 83,071,049 (GRCm39) |
N22I |
probably damaging |
Het |
| Me1 |
A |
G |
9: 86,493,965 (GRCm39) |
S323P |
probably benign |
Het |
| Or10a5 |
T |
C |
7: 106,635,569 (GRCm39) |
F69S |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,832,873 (GRCm39) |
|
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,691 (GRCm39) |
T233A |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,200 (GRCm39) |
V128F |
possibly damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,050,011 (GRCm39) |
V509A |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,542,525 (GRCm39) |
T1428S |
probably benign |
Het |
| Tubb3 |
T |
G |
8: 124,147,975 (GRCm39) |
C303G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,168,187 (GRCm39) |
V188L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,166,249 (GRCm39) |
Y840H |
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 |
|
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 |
|
R8464:Ttc27
|
UTSW |
17 |
75,024,925 (GRCm39) |
missense |
probably benign |
|
|
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'- ACCTTCCTCAGAGTCAAAGC -3'
(R):5'- TAAGTCAGAGTGGCATACCTGAAC -3'
Sequencing Primer
(F):5'- CCTCAGAGTCAAAGCTTTTAGAACG -3'
(R):5'- CAGCAATACTGTATGTGATGGCACC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation