Incidental Mutation 'R8687:Ttc27'
ID |
662101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc27
|
Ensembl Gene |
ENSMUSG00000024078 |
Gene Name |
tetratricopeptide repeat domain 27 |
Synonyms |
2610511O17Rik |
MMRRC Submission |
068542-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R8687 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75046679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 247
(Y247N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
AlphaFold |
Q8CD92 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024882
AA Change: Y247N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000024882 Gene: ENSMUSG00000024078 AA Change: Y247N
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 |
|
Meta Mutation Damage Score |
0.0943 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
92% (22/24) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap45 |
C |
T |
10: 79,852,621 (GRCm39) |
|
probably benign |
Het |
B3galt4 |
A |
G |
17: 34,169,819 (GRCm39) |
S140P |
probably damaging |
Het |
Cog6 |
C |
T |
3: 52,892,338 (GRCm39) |
V624I |
probably benign |
Het |
Cysrt1 |
A |
G |
2: 25,129,399 (GRCm39) |
S38P |
possibly damaging |
Het |
Eme2 |
C |
T |
17: 25,113,813 (GRCm39) |
V71M |
possibly damaging |
Het |
Eva1c |
C |
A |
16: 90,687,433 (GRCm39) |
T223K |
probably benign |
Het |
Gm3633 |
A |
T |
14: 42,462,648 (GRCm39) |
L81H |
|
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Iqch |
A |
T |
9: 63,432,067 (GRCm39) |
W443R |
probably damaging |
Het |
Itgb1 |
T |
C |
8: 129,442,697 (GRCm39) |
V294A |
probably damaging |
Het |
Kif1b |
T |
A |
4: 149,345,620 (GRCm39) |
K407* |
probably null |
Het |
Kyat1 |
A |
G |
2: 30,075,759 (GRCm39) |
S377P |
probably benign |
Het |
Mical3 |
A |
G |
6: 120,936,438 (GRCm39) |
S1363P |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Naip6 |
T |
A |
13: 100,435,636 (GRCm39) |
R962S |
probably benign |
Het |
Pnma8a |
T |
G |
7: 16,694,520 (GRCm39) |
V125G |
probably damaging |
Het |
Ptpdc1 |
G |
A |
13: 48,740,136 (GRCm39) |
P432S |
possibly damaging |
Het |
Rhobtb2 |
G |
A |
14: 70,038,104 (GRCm39) |
T52I |
probably damaging |
Het |
Slco1a8 |
C |
T |
6: 141,939,991 (GRCm39) |
G171S |
probably damaging |
Het |
Spop |
G |
A |
11: 95,361,337 (GRCm39) |
|
probably benign |
Het |
Stam |
TGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
TGCTGCTGCTGCTG |
2: 14,151,096 (GRCm39) |
|
probably benign |
Het |
Stam |
CCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
CCTGCCGCTGCTGCTGCTG |
2: 14,151,091 (GRCm39) |
|
probably benign |
Het |
Tmem102 |
T |
C |
11: 69,695,441 (GRCm39) |
H177R |
probably benign |
Het |
Trpc4ap |
T |
C |
2: 155,477,170 (GRCm39) |
T748A |
possibly damaging |
Het |
Ttc39a |
T |
C |
4: 109,288,776 (GRCm39) |
I292T |
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 |
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 |
|
X0026:Ttc27
|
UTSW |
17 |
75,163,432 (GRCm39) |
missense |
probably benign |
0.19 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCAGCTGTTGACTACTGTTG -3'
(R):5'- GCTGATAAAGGCTACGGCTC -3'
Sequencing Primer
(F):5'- GACTACTGTTGTATTTGTGTCCC -3'
(R):5'- TGATAAAGGCTACGGCTCACAAC -3'
|
Posted On |
2021-03-08 |