Incidental Mutation 'R7919:Ptcd3'
| ID |
648229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptcd3
|
| Ensembl Gene |
ENSMUSG00000063884 |
| Gene Name |
pentatricopeptide repeat domain 3 |
| Synonyms |
2610034F17Rik, 2810422B04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7919 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71880438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 95
(Y95C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082094]
[ENSMUST00000206879]
|
| AlphaFold |
Q14C51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082094
AA Change: Y95C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: Y95C
| 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: ENSMUST00000206284
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206879
AA Change: Y95C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
G |
3: 137,885,311 (GRCm39) |
K95T |
probably damaging |
Het |
| 9430097D07Rik |
T |
C |
2: 32,464,461 (GRCm39) |
T113A |
unknown |
Het |
| Abcc2 |
T |
C |
19: 43,805,248 (GRCm39) |
Y701H |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 69,036,091 (GRCm39) |
H190L |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,838,431 (GRCm39) |
T623A |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,290,906 (GRCm39) |
T462A |
probably benign |
Het |
| Calhm2 |
C |
T |
19: 47,121,447 (GRCm39) |
V241M |
possibly damaging |
Het |
| Cdc25c |
T |
C |
18: 34,868,429 (GRCm39) |
I314V |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,017,413 (GRCm39) |
D407N |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,350,742 (GRCm39) |
E2588G |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,229,990 (GRCm39) |
N178Y |
probably damaging |
Het |
| Eaf2 |
T |
A |
16: 36,630,914 (GRCm39) |
E86D |
probably damaging |
Het |
| Elf1 |
C |
A |
14: 79,798,339 (GRCm39) |
D75E |
probably benign |
Het |
| Fem1c |
T |
C |
18: 46,657,370 (GRCm39) |
T115A |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,936,611 (GRCm39) |
V186A |
probably benign |
Het |
| Gatb |
T |
A |
3: 85,511,828 (GRCm39) |
S194R |
probably damaging |
Het |
| Gm10775 |
T |
A |
13: 65,407,913 (GRCm39) |
N71K |
unknown |
Het |
| Gm19965 |
T |
A |
1: 116,749,850 (GRCm39) |
C510* |
probably null |
Het |
| Hydin |
A |
G |
8: 110,993,971 (GRCm39) |
T2A |
unknown |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
G |
A |
2: 136,930,366 (GRCm39) |
T726M |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,408,439 (GRCm39) |
D1306G |
probably damaging |
Het |
| Krt26 |
T |
A |
11: 99,224,420 (GRCm39) |
E366V |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,899,418 (GRCm39) |
E872G |
possibly damaging |
Het |
| Med6 |
G |
A |
12: 81,620,621 (GRCm39) |
R242* |
probably null |
Het |
| Meis2 |
A |
G |
2: 115,697,788 (GRCm39) |
V370A |
probably benign |
Het |
| Mta2 |
C |
T |
19: 8,926,498 (GRCm39) |
R480* |
probably null |
Het |
| Mup3 |
A |
T |
4: 62,002,829 (GRCm39) |
N177K |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,417,356 (GRCm39) |
V3435E |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,390 (GRCm39) |
T880A |
probably benign |
Het |
| Obox1 |
A |
T |
7: 15,290,256 (GRCm39) |
K200* |
probably null |
Het |
| Or8j3 |
A |
T |
2: 86,028,609 (GRCm39) |
C162* |
probably null |
Het |
| Ovgp1 |
T |
A |
3: 105,888,601 (GRCm39) |
V319D |
probably damaging |
Het |
| Plxdc2 |
A |
T |
2: 16,553,036 (GRCm39) |
I145F |
probably damaging |
Het |
| Prr30 |
T |
C |
14: 101,436,547 (GRCm39) |
N5S |
possibly damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,020,297 (GRCm39) |
S44P |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,273,595 (GRCm39) |
E49G |
probably benign |
Het |
| Shroom1 |
A |
G |
11: 53,354,220 (GRCm39) |
T47A |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Stx1b |
A |
G |
7: 127,406,507 (GRCm39) |
S281P |
probably benign |
Het |
| Tg |
A |
T |
15: 66,555,923 (GRCm39) |
I872F |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,399 (GRCm39) |
A564T |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,087 (GRCm39) |
E98G |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,624,822 (GRCm39) |
L1857P |
|
Het |
| Wars1 |
C |
T |
12: 108,847,030 (GRCm39) |
E125K |
probably benign |
Het |
| Wnt16 |
G |
A |
6: 22,291,049 (GRCm39) |
S159N |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,330,912 (GRCm39) |
F817S |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,108 (GRCm39) |
S125P |
possibly damaging |
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 |
|
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 |
|
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'- GTTCAGAGTCTACCAATTTGTCAG -3'
(R):5'- CAGCTTTGTGTTGTGCCAAC -3'
Sequencing Primer
(F):5'- AGAGTCTACCAATTTGTCAGTATTTG -3'
(R):5'- CCAACTTGGGGGAAAGTCTTACTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation