Incidental Mutation 'R1393:Ptcd3'
ID |
162695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptcd3
|
Ensembl Gene |
ENSMUSG00000063884 |
Gene Name |
pentatricopeptide repeat domain 3 |
Synonyms |
2610034F17Rik, 2810422B04Rik |
MMRRC Submission |
039455-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1393 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71866605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 404
(T404S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082094]
[ENSMUST00000206879]
|
AlphaFold |
Q14C51 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082094
AA Change: T404S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000080743 Gene: ENSMUSG00000063884 AA Change: T404S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
low complexity region
|
216 |
227 |
N/A |
INTRINSIC |
Pfam:PPR_2
|
253 |
300 |
1.4e-10 |
PFAM |
Pfam:PPR_3
|
331 |
366 |
2.1e-4 |
PFAM |
low complexity region
|
671 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206762
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206879
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
Het |
|
Other mutations in Ptcd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00767:Ptcd3
|
APN |
6 |
71,880,432 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00903:Ptcd3
|
APN |
6 |
71,884,828 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01545:Ptcd3
|
APN |
6 |
71,865,561 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01924:Ptcd3
|
APN |
6 |
71,875,411 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02675:Ptcd3
|
APN |
6 |
71,860,426 (GRCm39) |
critical splice donor site |
probably null |
|
R0732:Ptcd3
|
UTSW |
6 |
71,858,155 (GRCm39) |
unclassified |
probably benign |
|
R1374:Ptcd3
|
UTSW |
6 |
71,885,637 (GRCm39) |
nonsense |
probably null |
|
R1498:Ptcd3
|
UTSW |
6 |
71,870,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Ptcd3
|
UTSW |
6 |
71,875,379 (GRCm39) |
missense |
probably benign |
0.26 |
R1712:Ptcd3
|
UTSW |
6 |
71,885,637 (GRCm39) |
nonsense |
probably null |
|
R2022:Ptcd3
|
UTSW |
6 |
71,862,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R2248:Ptcd3
|
UTSW |
6 |
71,871,269 (GRCm39) |
critical splice donor site |
probably null |
|
R2406:Ptcd3
|
UTSW |
6 |
71,865,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R3418:Ptcd3
|
UTSW |
6 |
71,860,470 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3419:Ptcd3
|
UTSW |
6 |
71,860,470 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4677:Ptcd3
|
UTSW |
6 |
71,870,498 (GRCm39) |
missense |
probably benign |
0.17 |
R4741:Ptcd3
|
UTSW |
6 |
71,879,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R4752:Ptcd3
|
UTSW |
6 |
71,878,296 (GRCm39) |
missense |
probably damaging |
0.99 |
R5441:Ptcd3
|
UTSW |
6 |
71,858,505 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5583:Ptcd3
|
UTSW |
6 |
71,879,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Ptcd3
|
UTSW |
6 |
71,884,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Ptcd3
|
UTSW |
6 |
71,875,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R6324:Ptcd3
|
UTSW |
6 |
71,862,311 (GRCm39) |
missense |
probably benign |
0.00 |
R6537:Ptcd3
|
UTSW |
6 |
71,874,094 (GRCm39) |
splice site |
probably null |
|
R6600:Ptcd3
|
UTSW |
6 |
71,860,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R6783:Ptcd3
|
UTSW |
6 |
71,885,627 (GRCm39) |
missense |
probably benign |
0.00 |
R6810:Ptcd3
|
UTSW |
6 |
71,862,516 (GRCm39) |
missense |
probably damaging |
0.99 |
R6860:Ptcd3
|
UTSW |
6 |
71,874,094 (GRCm39) |
splice site |
probably null |
|
R6993:Ptcd3
|
UTSW |
6 |
71,862,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R7578:Ptcd3
|
UTSW |
6 |
71,885,691 (GRCm39) |
missense |
probably benign |
|
R7788:Ptcd3
|
UTSW |
6 |
71,862,541 (GRCm39) |
missense |
probably benign |
0.00 |
R7851:Ptcd3
|
UTSW |
6 |
71,879,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R7888:Ptcd3
|
UTSW |
6 |
71,860,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R7889:Ptcd3
|
UTSW |
6 |
71,865,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R7919:Ptcd3
|
UTSW |
6 |
71,880,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R8162:Ptcd3
|
UTSW |
6 |
71,884,798 (GRCm39) |
missense |
probably benign |
0.02 |
R8351:Ptcd3
|
UTSW |
6 |
71,885,625 (GRCm39) |
missense |
probably benign |
0.00 |
R8451:Ptcd3
|
UTSW |
6 |
71,885,625 (GRCm39) |
missense |
probably benign |
0.00 |
R8701:Ptcd3
|
UTSW |
6 |
71,862,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8826:Ptcd3
|
UTSW |
6 |
71,885,645 (GRCm39) |
missense |
probably benign |
0.01 |
R8926:Ptcd3
|
UTSW |
6 |
71,869,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R8969:Ptcd3
|
UTSW |
6 |
71,880,431 (GRCm39) |
missense |
probably benign |
0.44 |
R9031:Ptcd3
|
UTSW |
6 |
71,880,458 (GRCm39) |
nonsense |
probably null |
|
R9046:Ptcd3
|
UTSW |
6 |
71,870,364 (GRCm39) |
critical splice donor site |
probably null |
|
R9384:Ptcd3
|
UTSW |
6 |
71,874,110 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9668:Ptcd3
|
UTSW |
6 |
71,871,275 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9771:Ptcd3
|
UTSW |
6 |
71,872,903 (GRCm39) |
nonsense |
probably null |
|
X0024:Ptcd3
|
UTSW |
6 |
71,878,258 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Ptcd3
|
UTSW |
6 |
71,884,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGTACTCACCACACTCATGGC -3'
(R):5'- GCTTAACCCAAGGATGGATGGATGG -3'
Sequencing Primer
(F):5'- CACAAAAAGTTTGGTTGGTGTAG -3'
(R):5'- gatggatggatggatggatggG -3'
|
Posted On |
2014-03-17 |