Incidental Mutation 'IGL00903:Ptcd3'
ID |
27587 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00903
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71884828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 37
(F37S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000082094]
[ENSMUST00000206556]
[ENSMUST00000206879]
|
AlphaFold |
Q14C51 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055296
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553
Domain | Start | End | E-Value | Type |
RPOLA_N
|
302 |
649 |
8.97e-137 |
SMART |
Pfam:RNA_pol_Rpb1_4
|
846 |
958 |
1.3e-26 |
PFAM |
Pfam:RNA_pol_Rpb1_5
|
965 |
1669 |
7e-103 |
PFAM |
low complexity region
|
1698 |
1708 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082094
AA Change: F37S
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080743 Gene: ENSMUSG00000063884 AA Change: F37S
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: ENSMUST00000205420
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205842
|
Predicted Effect |
unknown
Transcript: ENSMUST00000206284
AA Change: F29S
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206879
AA Change: F37S
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsk |
A |
G |
13: 76,246,487 (GRCm39) |
|
probably null |
Het |
As3mt |
A |
G |
19: 46,700,673 (GRCm39) |
I159V |
probably benign |
Het |
Atpsckmt |
T |
C |
15: 31,606,261 (GRCm39) |
V73A |
possibly damaging |
Het |
Ctsll3 |
C |
A |
13: 60,948,075 (GRCm39) |
V201L |
probably benign |
Het |
Dapk1 |
T |
C |
13: 60,909,211 (GRCm39) |
Y1275H |
probably damaging |
Het |
Erap1 |
G |
A |
13: 74,821,826 (GRCm39) |
R727H |
probably benign |
Het |
Fcrl6 |
T |
A |
1: 172,426,674 (GRCm39) |
T91S |
probably benign |
Het |
Gvin1 |
T |
C |
7: 105,757,377 (GRCm39) |
E2364G |
probably benign |
Het |
Hacd3 |
T |
C |
9: 64,911,535 (GRCm39) |
|
probably benign |
Het |
Hcls1 |
T |
A |
16: 36,776,383 (GRCm39) |
|
probably null |
Het |
Igf2r |
C |
T |
17: 12,902,754 (GRCm39) |
R2432H |
possibly damaging |
Het |
Kif27 |
C |
A |
13: 58,492,486 (GRCm39) |
V218F |
possibly damaging |
Het |
Klhl20 |
T |
C |
1: 160,918,076 (GRCm39) |
Y70C |
probably benign |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Lcn12 |
G |
T |
2: 25,383,332 (GRCm39) |
N15K |
possibly damaging |
Het |
Mrgpra1 |
T |
C |
7: 46,985,326 (GRCm39) |
M118V |
probably benign |
Het |
Nacad |
G |
T |
11: 6,550,632 (GRCm39) |
T853K |
probably damaging |
Het |
Nos3 |
A |
T |
5: 24,574,860 (GRCm39) |
Q293L |
probably damaging |
Het |
Prkca |
C |
T |
11: 107,874,800 (GRCm39) |
V381M |
probably damaging |
Het |
Ptgs2 |
A |
G |
1: 149,980,175 (GRCm39) |
Y371C |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,254,516 (GRCm39) |
Y143C |
probably damaging |
Het |
Samhd1 |
A |
G |
2: 156,949,343 (GRCm39) |
|
probably benign |
Het |
Scube1 |
T |
A |
15: 83,587,702 (GRCm39) |
H89L |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,938,315 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
A |
G |
17: 20,682,774 (GRCm39) |
V810A |
probably damaging |
Het |
Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
Zfas1 |
G |
T |
2: 166,907,406 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2013-04-17 |