Incidental Mutation 'R6987:Ttc27'
| ID |
543054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc27
|
| Ensembl Gene |
ENSMUSG00000024078 |
| Gene Name |
tetratricopeptide repeat domain 27 |
| Synonyms |
2610511O17Rik |
| MMRRC Submission |
045094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R6987 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 75084736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
| AlphaFold |
Q8CD92 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024882
|
| SMART Domains |
Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
| 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: 99.8%
- 10x: 99.0%
- 20x: 96.9%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
G |
9: 70,629,978 (GRCm39) |
I137V |
probably benign |
Het |
| Agtr1b |
A |
C |
3: 20,370,585 (GRCm39) |
I7S |
probably benign |
Het |
| Akt2 |
G |
T |
7: 27,332,666 (GRCm39) |
V215L |
probably damaging |
Het |
| Ccdc148 |
C |
A |
2: 58,872,926 (GRCm39) |
L294F |
probably damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,143,115 (GRCm39) |
V124E |
possibly damaging |
Het |
| Cldnd1 |
A |
G |
16: 58,551,734 (GRCm39) |
D121G |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,739 (GRCm39) |
I376V |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,801,211 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,881,065 (GRCm39) |
I601V |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,353,792 (GRCm39) |
H2982N |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,108,602 (GRCm39) |
D55E |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,144 (GRCm39) |
I218T |
probably benign |
Het |
| Fbln2 |
T |
A |
6: 91,211,211 (GRCm39) |
V385D |
probably benign |
Het |
| Ffar2 |
A |
G |
7: 30,519,108 (GRCm39) |
V144A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,778,630 (GRCm39) |
Q159* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,387,600 (GRCm39) |
H1574R |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,950,275 (GRCm39) |
N985D |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,410,874 (GRCm39) |
N1438S |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,332,665 (GRCm39) |
V57F |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,033,850 (GRCm39) |
T324M |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,036 (GRCm39) |
K635E |
possibly damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,338 (GRCm39) |
C112* |
probably null |
Het |
| Or8b12i |
A |
T |
9: 20,082,130 (GRCm39) |
S246T |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,958 (GRCm39) |
E13G |
probably damaging |
Het |
| Pira12 |
A |
G |
7: 3,900,660 (GRCm39) |
I30T |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,852,575 (GRCm39) |
M636T |
probably benign |
Het |
| Pla2g4e |
C |
T |
2: 120,016,861 (GRCm39) |
A227T |
probably benign |
Het |
| Prex2 |
C |
A |
1: 11,240,976 (GRCm39) |
A1028E |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,072,977 (GRCm39) |
D49G |
possibly damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,552,043 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,660,021 (GRCm39) |
C960R |
probably benign |
Het |
| Taf15 |
C |
A |
11: 83,375,521 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tdrd9 |
C |
A |
12: 111,992,027 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,086,154 (GRCm39) |
Q16K |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem168 |
T |
A |
6: 13,591,476 (GRCm39) |
M63L |
possibly damaging |
Het |
| Trav14-1 |
C |
T |
14: 53,791,916 (GRCm39) |
R89* |
probably null |
Het |
| Trp53bp2 |
A |
T |
1: 182,274,200 (GRCm39) |
Y615F |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,874,068 (GRCm39) |
V548E |
probably damaging |
Het |
| Vmn1r124 |
A |
T |
7: 20,993,743 (GRCm39) |
I267K |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,491 (GRCm39) |
M1T |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,768,058 (GRCm39) |
K724* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,426 (GRCm39) |
C261S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,668,517 (GRCm39) |
V448E |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,340 (GRCm39) |
M881V |
possibly 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 |
|
|
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'- AGCTACCACACTCCTAAGCT -3'
Sequencing Primer
(F):5'- ATGTGCATATTTATAGGTG -3'
(R):5'- ACACTCCTAAGCTAACATTCCTCTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation