Incidental Mutation 'R5203:Ttc27'
| ID |
398296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc27
|
| Ensembl Gene |
ENSMUSG00000024078 |
| Gene Name |
tetratricopeptide repeat domain 27 |
| Synonyms |
2610511O17Rik |
| MMRRC Submission |
042778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R5203 (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 G
at 75084649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 419
(D419G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
| AlphaFold |
Q8CD92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024882
AA Change: D419G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: D419G
| 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: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
G |
16: 4,653,462 (GRCm39) |
S4A |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,659,024 (GRCm39) |
N2053K |
possibly damaging |
Het |
| Akr1c13 |
C |
T |
13: 4,247,896 (GRCm39) |
R223* |
probably null |
Het |
| Arhgef11 |
A |
G |
3: 87,642,664 (GRCm39) |
Y1370C |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,409,314 (GRCm39) |
E1731G |
unknown |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,918 (GRCm39) |
V75E |
probably damaging |
Het |
| Fa2h |
A |
G |
8: 112,075,996 (GRCm39) |
M209T |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,224,582 (GRCm39) |
I311T |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,438 (GRCm39) |
L28F |
possibly damaging |
Het |
| Fntb |
C |
A |
12: 76,884,346 (GRCm39) |
P22Q |
probably benign |
Het |
| Gmeb1 |
T |
C |
4: 131,959,320 (GRCm39) |
|
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,759,787 (GRCm39) |
S112P |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,792 (GRCm39) |
S464P |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Krt79 |
A |
G |
15: 101,838,175 (GRCm39) |
S527P |
unknown |
Het |
| Lnpep |
A |
T |
17: 17,757,325 (GRCm39) |
D858E |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,427,347 (GRCm39) |
V403F |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,232,646 (GRCm39) |
Q363R |
probably benign |
Het |
| Mtmr10 |
G |
A |
7: 63,967,909 (GRCm39) |
V273I |
probably benign |
Het |
| Mup2 |
T |
A |
4: 60,139,728 (GRCm39) |
E20V |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,410,995 (GRCm39) |
N151S |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 89,391,079 (GRCm39) |
D462A |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,878,247 (GRCm39) |
Y497H |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,625,092 (GRCm39) |
L61Q |
probably damaging |
Het |
| Or4k44 |
A |
C |
2: 111,367,981 (GRCm39) |
Y218D |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,243 (GRCm39) |
D352V |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,130,755 (GRCm39) |
D195G |
probably damaging |
Het |
| Scyl1 |
G |
A |
19: 5,821,395 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,720 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,521,213 (GRCm39) |
|
probably null |
Het |
| Slc2a12 |
G |
C |
10: 22,568,117 (GRCm39) |
V515L |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,209,061 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ubxn8 |
T |
C |
8: 34,123,639 (GRCm39) |
E100G |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,358,451 (GRCm39) |
E272G |
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 |
|
|
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'- TTTTCCTGGTACTATTTAAATGTGCA -3'
(R):5'- CCCTCTGGATACCTACTGCT -3'
Sequencing Primer
(F):5'- AGAAACTTCATACATTTCTAACC -3'
(R):5'- AGACAAACAGAAGTACCTGA -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation