Incidental Mutation 'R4557:Ttc27'
| ID |
341929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc27
|
| Ensembl Gene |
ENSMUSG00000024078 |
| Gene Name |
tetratricopeptide repeat domain 27 |
| Synonyms |
2610511O17Rik |
| MMRRC Submission |
041784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4557 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75136544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 584
(S584A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
| AlphaFold |
Q8CD92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024882
AA Change: S584A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: S584A
| 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 |
0.1546 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
T |
C |
9: 103,960,038 (GRCm39) |
F219L |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,848,346 (GRCm39) |
Y659H |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Apba1 |
T |
A |
19: 23,894,956 (GRCm39) |
I464N |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,165,914 (GRCm39) |
T1057A |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,004 (GRCm39) |
E449G |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,463,384 (GRCm39) |
I1453L |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,175,080 (GRCm39) |
E531V |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,113 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
C |
A |
17: 70,823,684 (GRCm39) |
T223K |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,709,290 (GRCm39) |
V24M |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Gm10100 |
G |
A |
10: 77,562,365 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,291 (GRCm39) |
V622A |
probably damaging |
Het |
| Gpr149 |
A |
C |
3: 62,511,918 (GRCm39) |
M27R |
probably benign |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,818 (GRCm39) |
N101D |
probably benign |
Het |
| Igkv4-78 |
A |
G |
6: 69,036,755 (GRCm39) |
S93P |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,505,313 (GRCm39) |
W3332R |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,141,028 (GRCm39) |
I459T |
probably benign |
Het |
| Mdn1 |
G |
T |
4: 32,754,437 (GRCm39) |
C4646F |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,182,993 (GRCm39) |
K351E |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,647 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
A |
17: 38,263,142 (GRCm39) |
A258S |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,425 (GRCm39) |
V3E |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,398 (GRCm39) |
Y250H |
probably damaging |
Het |
| Phrf1 |
C |
T |
7: 140,838,842 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,284 (GRCm39) |
M48L |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,976 (GRCm39) |
E923G |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,414,886 (GRCm39) |
S2075R |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,011,553 (GRCm39) |
C114R |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,191,154 (GRCm39) |
R945S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,028,561 (GRCm39) |
N517S |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,258,079 (GRCm39) |
L443R |
possibly damaging |
Het |
| Smok4a |
T |
C |
17: 13,746,643 (GRCm39) |
|
noncoding transcript |
Het |
| Snx18 |
A |
G |
13: 113,754,364 (GRCm39) |
S190P |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,779,359 (GRCm39) |
Y1174N |
probably damaging |
Het |
| Zbtb44 |
T |
G |
9: 30,975,544 (GRCm39) |
S391R |
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 |
|
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'- GTTCTGAATTCTGCAGAGAAGTG -3'
(R):5'- TCAACTGGTAAGTAGATGCAGTGATC -3'
Sequencing Primer
(F):5'- AATTCTGCAGAGAAGTGTAGTTTTTG -3'
(R):5'- GTGATCTGCCCTAACAACAGAAGATG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation