Incidental Mutation 'R6537:Ptcd3'
| ID |
520473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptcd3
|
| Ensembl Gene |
ENSMUSG00000063884 |
| Gene Name |
pentatricopeptide repeat domain 3 |
| Synonyms |
2610034F17Rik, 2810422B04Rik |
| MMRRC Submission |
044663-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 71874094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082094]
[ENSMUST00000206879]
|
| AlphaFold |
Q14C51 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082094
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
| 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 |
noncoding transcript
Transcript: ENSMUST00000205293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206879
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
T |
C |
5: 53,000,898 (GRCm39) |
S224P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,945,153 (GRCm39) |
T987M |
possibly damaging |
Het |
| Cort |
C |
T |
4: 149,211,081 (GRCm39) |
G8E |
probably benign |
Het |
| Ctdp1 |
G |
T |
18: 80,492,766 (GRCm39) |
D576E |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,413,284 (GRCm39) |
D22G |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,887,898 (GRCm39) |
G136R |
probably null |
Het |
| Fxyd6 |
A |
G |
9: 45,302,092 (GRCm39) |
I37V |
possibly damaging |
Het |
| Gm10604 |
A |
C |
4: 11,980,221 (GRCm39) |
S28A |
unknown |
Het |
| Gm43302 |
A |
G |
5: 105,438,861 (GRCm39) |
I9T |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,305,280 (GRCm39) |
V3151A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,435,573 (GRCm39) |
T282A |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,457,458 (GRCm39) |
E782G |
probably benign |
Het |
| Lrrc3b |
T |
C |
14: 15,357,946 (GRCm38) |
Y220C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,386,518 (GRCm39) |
S1033N |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,481 (GRCm39) |
T452A |
probably benign |
Het |
| Nrn1l |
G |
T |
8: 106,621,350 (GRCm39) |
R99L |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,519 (GRCm39) |
I1142N |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,358 (GRCm39) |
F728L |
probably damaging |
Het |
| Siglecf |
C |
T |
7: 43,005,423 (GRCm39) |
T461I |
probably benign |
Het |
| Slc7a8 |
C |
T |
14: 54,972,576 (GRCm39) |
A282T |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,392 (GRCm39) |
V1724A |
probably damaging |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,725,561 (GRCm39) |
Q609R |
probably benign |
Het |
| Trim45 |
C |
T |
3: 100,832,712 (GRCm39) |
A315V |
probably benign |
Het |
| Ttbk1 |
C |
T |
17: 46,781,236 (GRCm39) |
V446M |
probably damaging |
Het |
| Wrap53 |
T |
C |
11: 69,454,694 (GRCm39) |
D225G |
possibly damaging |
Het |
| Znhit6 |
A |
G |
3: 145,300,374 (GRCm39) |
I193V |
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 |
|
|
R1393:Ptcd3
|
UTSW |
6 |
71,866,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AGGTTGGCCTGGGCTATATAAG -3'
(R):5'- CACTGTAGGTGTGAACATTTGG -3'
Sequencing Primer
(F):5'- GCAAGCCTCTTCTACATAGTGAG -3'
(R):5'- GCTTGCAAGCAAGCATT -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation