Incidental Mutation 'R4155:Ttc27'
ID |
315115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc27
|
Ensembl Gene |
ENSMUSG00000024078 |
Gene Name |
tetratricopeptide repeat domain 27 |
Synonyms |
2610511O17Rik |
MMRRC Submission |
040999-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R4155 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 75147455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 669
(I669S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
AlphaFold |
Q8CD92 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024882
AA Change: I669S
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000024882 Gene: ENSMUSG00000024078 AA Change: I669S
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: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
Akt3 |
A |
G |
1: 176,924,543 (GRCm39) |
I184T |
possibly damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Armc2 |
A |
G |
10: 41,887,863 (GRCm39) |
V40A |
probably damaging |
Het |
Ash2l |
A |
G |
8: 26,307,482 (GRCm39) |
Y485H |
probably damaging |
Het |
Atr |
T |
A |
9: 95,770,177 (GRCm39) |
C1202* |
probably null |
Het |
Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
Birc6 |
C |
A |
17: 74,903,934 (GRCm39) |
S1242R |
probably benign |
Het |
Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
Bsx |
A |
G |
9: 40,787,632 (GRCm39) |
E102G |
probably benign |
Het |
Casq2 |
A |
T |
3: 102,040,418 (GRCm39) |
|
probably null |
Het |
Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
Copa |
T |
G |
1: 171,928,992 (GRCm39) |
N251K |
probably damaging |
Het |
Cst8 |
C |
A |
2: 148,641,996 (GRCm39) |
A31E |
possibly damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
Fbn2 |
C |
A |
18: 58,156,359 (GRCm39) |
E2487* |
probably null |
Het |
Hoxd9 |
A |
G |
2: 74,529,667 (GRCm39) |
I308V |
probably benign |
Het |
Ica1l |
G |
A |
1: 60,053,052 (GRCm39) |
A162V |
possibly damaging |
Het |
Kcnj15 |
A |
T |
16: 95,097,166 (GRCm39) |
K263* |
probably null |
Het |
Mettl4 |
T |
C |
17: 95,048,003 (GRCm39) |
M213V |
probably benign |
Het |
Nalf1 |
T |
A |
8: 9,283,023 (GRCm39) |
Y342F |
possibly damaging |
Het |
Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
Or14a259 |
T |
A |
7: 86,013,270 (GRCm39) |
I92L |
probably benign |
Het |
Or4c127 |
A |
G |
2: 89,833,004 (GRCm39) |
S85G |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,008,363 (GRCm39) |
T13A |
probably benign |
Het |
Or8d1b |
A |
T |
9: 38,887,451 (GRCm39) |
T160S |
probably damaging |
Het |
P2rx5 |
A |
G |
11: 73,062,655 (GRCm39) |
T455A |
probably damaging |
Het |
Pcdh1 |
T |
A |
18: 38,336,159 (GRCm39) |
T159S |
probably damaging |
Het |
Poln |
A |
G |
5: 34,166,993 (GRCm39) |
V755A |
possibly damaging |
Het |
Pou4f1 |
C |
T |
14: 104,705,153 (GRCm39) |
S6N |
possibly damaging |
Het |
Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
Samd4 |
T |
A |
14: 47,290,403 (GRCm39) |
M170K |
possibly damaging |
Het |
Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
Tmcc1 |
C |
T |
6: 116,110,765 (GRCm39) |
G176D |
probably benign |
Het |
Tmem232 |
A |
T |
17: 65,743,328 (GRCm39) |
M321K |
probably damaging |
Het |
Tnfsf11 |
A |
G |
14: 78,537,309 (GRCm39) |
M118T |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,597,172 (GRCm39) |
L73H |
probably benign |
Het |
Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
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 |
|
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'- CCTTCCTCAGAGTCAAAGCTTTTAG -3'
(R):5'- CGTAAGTCAGAGTGGCATACC -3'
Sequencing Primer
(F):5'- GCTTTTAGAACGTTACAAGAAGCCC -3'
(R):5'- CAGCAATACTGTATGTGATGGCACC -3'
|
Posted On |
2015-05-14 |