Incidental Mutation 'R3418:Ptcd3'
| ID |
266893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptcd3
|
| Ensembl Gene |
ENSMUSG00000063884 |
| Gene Name |
pentatricopeptide repeat domain 3 |
| Synonyms |
2610034F17Rik, 2810422B04Rik |
| MMRRC Submission |
040636-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3418 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71860470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 579
(I579K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082094]
[ENSMUST00000206879]
|
| AlphaFold |
Q14C51 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082094
AA Change: I579K
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: I579K
| 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: ENSMUST00000116815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206879
|
| Meta Mutation Damage Score |
0.6564 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
| Acaa1a |
A |
G |
9: 119,178,556 (GRCm39) |
|
probably null |
Het |
| Agbl5 |
T |
C |
5: 31,062,067 (GRCm39) |
S756P |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
| Cdc16 |
C |
T |
8: 13,819,489 (GRCm39) |
Q362* |
probably null |
Het |
| Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
| Cep170b |
C |
T |
12: 112,704,902 (GRCm39) |
Q887* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,763,219 (GRCm39) |
I2348T |
probably damaging |
Het |
| Clec9a |
A |
G |
6: 129,398,001 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,579 (GRCm39) |
I328T |
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,302,728 (GRCm39) |
D1725E |
possibly damaging |
Het |
| Dnajb14 |
A |
G |
3: 137,598,631 (GRCm39) |
D123G |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,580,587 (GRCm39) |
M661K |
probably damaging |
Het |
| Esam |
C |
T |
9: 37,448,426 (GRCm39) |
|
probably null |
Het |
| Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,169,824 (GRCm39) |
H2978Q |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,162,846 (GRCm39) |
T2147A |
possibly damaging |
Het |
| Fdft1 |
T |
C |
14: 63,394,070 (GRCm39) |
T214A |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,252 (GRCm39) |
S147G |
probably benign |
Het |
| Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
| Gcat |
A |
T |
15: 78,926,297 (GRCm39) |
T56S |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,047,454 (GRCm39) |
|
probably null |
Het |
| Gm4736 |
A |
T |
6: 132,092,640 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,820,108 (GRCm39) |
N368S |
probably benign |
Het |
| Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,013,440 (GRCm39) |
S401P |
probably damaging |
Het |
| Htr1f |
G |
A |
16: 64,746,260 (GRCm39) |
P344L |
probably damaging |
Het |
| Ighv7-3 |
T |
A |
12: 114,116,919 (GRCm39) |
Y81F |
probably damaging |
Het |
| Jakmip3 |
C |
A |
7: 138,619,474 (GRCm39) |
|
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
| Khdrbs3 |
T |
C |
15: 68,921,224 (GRCm39) |
|
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
| Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Myom2 |
T |
G |
8: 15,135,294 (GRCm39) |
I499S |
probably benign |
Het |
| Nos2 |
T |
A |
11: 78,850,521 (GRCm39) |
F1126L |
possibly damaging |
Het |
| Or3a4 |
G |
A |
11: 73,944,814 (GRCm39) |
T257I |
probably damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
| Pou6f1 |
C |
A |
15: 100,478,805 (GRCm39) |
V368L |
probably benign |
Het |
| Rbm45 |
A |
G |
2: 76,209,362 (GRCm39) |
E392G |
probably damaging |
Het |
| Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
| Rnf222 |
G |
T |
11: 68,783,982 (GRCm39) |
R183L |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,832,805 (GRCm39) |
T1526I |
probably benign |
Het |
| Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
| Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
| Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,291,666 (GRCm39) |
F329S |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,476,850 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,043,446 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,958,901 (GRCm39) |
Y146C |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,737,130 (GRCm39) |
D79G |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,892,243 (GRCm39) |
|
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,780,754 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
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 |
|
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'- AACTGGTATTTGCAAGTGTCCAC -3'
(R):5'- AGACAGGTGAAGGCCTCTTTG -3'
Sequencing Primer
(F):5'- GGTATTTGCAAGTGTCCACTAAAACC -3'
(R):5'- AAGGCCTCTTTGTTGCTGTGTTAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation