Incidental Mutation 'R6830:Ttc27'
ID |
534371 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc27
|
Ensembl Gene |
ENSMUSG00000024078 |
Gene Name |
tetratricopeptide repeat domain 27 |
Synonyms |
2610511O17Rik |
MMRRC Submission |
044940-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R6830 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 75163550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 719
(Y719*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
AlphaFold |
Q8CD92 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024882
AA Change: Y719*
|
SMART Domains |
Protein: ENSMUSP00000024882 Gene: ENSMUSG00000024078 AA Change: Y719*
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: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
T |
C |
3: 146,356,716 (GRCm39) |
D64G |
possibly damaging |
Het |
Amtn |
T |
C |
5: 88,525,956 (GRCm39) |
L40P |
probably damaging |
Het |
Ano6 |
A |
G |
15: 95,792,342 (GRCm39) |
R90G |
probably damaging |
Het |
Arfgef3 |
A |
C |
10: 18,540,637 (GRCm39) |
|
probably null |
Het |
Asxl3 |
C |
T |
18: 22,658,445 (GRCm39) |
P2152S |
probably benign |
Het |
Atp7b |
A |
T |
8: 22,512,381 (GRCm39) |
V494E |
probably damaging |
Het |
Bik |
T |
A |
15: 83,428,409 (GRCm39) |
Y146N |
probably benign |
Het |
C1qtnf7 |
A |
T |
5: 43,766,436 (GRCm39) |
I12F |
possibly damaging |
Het |
Cacna1e |
A |
G |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
Ccdc168 |
A |
G |
1: 44,095,890 (GRCm39) |
V1736A |
probably benign |
Het |
Ccnj |
A |
G |
19: 40,833,636 (GRCm39) |
E231G |
probably damaging |
Het |
Cd101 |
T |
C |
3: 100,901,012 (GRCm39) |
K1020R |
probably benign |
Het |
Cdh6 |
C |
A |
15: 13,044,860 (GRCm39) |
V421L |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,205,668 (GRCm39) |
S135P |
probably benign |
Het |
Decr1 |
T |
C |
4: 15,924,355 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
Epx |
A |
G |
11: 87,759,452 (GRCm39) |
F546L |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,035,966 (GRCm39) |
M3206K |
probably benign |
Het |
Fgb |
T |
C |
3: 82,952,332 (GRCm39) |
D179G |
probably benign |
Het |
Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
Gpn1 |
T |
A |
5: 31,664,832 (GRCm39) |
S285R |
probably benign |
Het |
Htt |
T |
A |
5: 34,991,670 (GRCm39) |
Y1212N |
possibly damaging |
Het |
Kcnj13 |
T |
C |
1: 87,314,745 (GRCm39) |
K159R |
probably damaging |
Het |
Ldb2 |
T |
A |
5: 44,699,199 (GRCm39) |
I80F |
probably damaging |
Het |
Macrod2 |
T |
A |
2: 140,294,602 (GRCm39) |
N89K |
probably damaging |
Het |
Mdga2 |
G |
A |
12: 66,769,775 (GRCm39) |
R173C |
probably damaging |
Het |
Mroh9 |
A |
G |
1: 162,903,935 (GRCm39) |
F26L |
probably benign |
Het |
Neil3 |
G |
T |
8: 54,052,514 (GRCm39) |
N361K |
probably benign |
Het |
Nepro |
A |
G |
16: 44,551,720 (GRCm39) |
R193G |
probably damaging |
Het |
Or52d3 |
T |
A |
7: 104,229,447 (GRCm39) |
I198N |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,731,113 (GRCm39) |
Q3205L |
unknown |
Het |
Plekhm1 |
A |
T |
11: 103,267,715 (GRCm39) |
I752N |
probably damaging |
Het |
Podn |
T |
C |
4: 107,878,614 (GRCm39) |
T273A |
possibly damaging |
Het |
Prep |
T |
A |
10: 44,973,597 (GRCm39) |
M235K |
probably benign |
Het |
Ptprc |
A |
T |
1: 137,999,993 (GRCm39) |
|
probably null |
Het |
Reg2 |
A |
G |
6: 78,384,625 (GRCm39) |
H119R |
possibly damaging |
Het |
Rpe65 |
T |
C |
3: 159,319,805 (GRCm39) |
V225A |
probably benign |
Het |
Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
Slc25a23 |
G |
A |
17: 57,360,804 (GRCm39) |
R9* |
probably null |
Het |
Snai3 |
A |
G |
8: 123,183,212 (GRCm39) |
L111P |
probably damaging |
Het |
Stk38 |
A |
G |
17: 29,218,981 (GRCm39) |
|
probably null |
Het |
Stk38l |
A |
T |
6: 146,668,269 (GRCm39) |
I115F |
possibly damaging |
Het |
Tmco6 |
T |
A |
18: 36,871,406 (GRCm39) |
|
probably null |
Het |
Tollip |
A |
T |
7: 141,452,451 (GRCm39) |
M1K |
probably null |
Het |
Trim40 |
T |
C |
17: 37,199,742 (GRCm39) |
Y112C |
possibly damaging |
Het |
Ubald1 |
T |
C |
16: 4,697,584 (GRCm39) |
D6G |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,693,171 (GRCm39) |
S476R |
probably benign |
Het |
Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
Zbtb21 |
C |
T |
16: 97,753,161 (GRCm39) |
G402D |
probably damaging |
Het |
Zfp84 |
A |
G |
7: 29,475,911 (GRCm39) |
Y201C |
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,770,028 (GRCm39) |
H62L |
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 |
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'- CATTTGATGGCTGCTAGCTCAC -3'
(R):5'- GCATGGCCGTAATTCAAAGTACTG -3'
Sequencing Primer
(F):5'- GATGGCTGCTAGCTCACTATCTTC -3'
(R):5'- ACCTTGTTAGTTAGCACAGGGACC -3'
|
Posted On |
2018-09-12 |