Incidental Mutation 'R6324:Ptcd3'
ID |
510652 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptcd3
|
Ensembl Gene |
ENSMUSG00000063884 |
Gene Name |
pentatricopeptide repeat domain 3 |
Synonyms |
2610034F17Rik, 2810422B04Rik |
MMRRC Submission |
044478-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6324 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71862311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 509
(V509I)
|
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: V509I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000080743 Gene: ENSMUSG00000063884 AA Change: V509I
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 |
probably benign
Transcript: ENSMUST00000205556
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
Atp13a3 |
A |
G |
16: 30,151,103 (GRCm39) |
V1069A |
possibly damaging |
Het |
Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,737,292 (GRCm39) |
S1877P |
probably damaging |
Het |
Ccdc27 |
A |
T |
4: 154,120,648 (GRCm39) |
S383T |
probably benign |
Het |
Cr1l |
A |
G |
1: 194,793,430 (GRCm39) |
V377A |
probably benign |
Het |
Dazap1 |
A |
G |
10: 80,113,494 (GRCm39) |
E130G |
probably benign |
Het |
Dchs1 |
G |
T |
7: 105,414,145 (GRCm39) |
A890E |
probably benign |
Het |
Dock10 |
G |
A |
1: 80,482,893 (GRCm39) |
T2143I |
probably benign |
Het |
Eif3j1 |
A |
G |
2: 121,871,659 (GRCm39) |
D60G |
probably benign |
Het |
Enah |
A |
G |
1: 181,746,136 (GRCm39) |
S382P |
probably damaging |
Het |
Fam171b |
A |
T |
2: 83,709,608 (GRCm39) |
K427* |
probably null |
Het |
Fmn2 |
A |
T |
1: 174,440,119 (GRCm39) |
I1179L |
possibly damaging |
Het |
Focad |
C |
T |
4: 88,319,305 (GRCm39) |
R1505* |
probably null |
Het |
Frem1 |
T |
C |
4: 82,901,574 (GRCm39) |
T985A |
probably benign |
Het |
Gm3404 |
A |
T |
5: 146,464,917 (GRCm39) |
Q219L |
possibly damaging |
Het |
Gm5592 |
A |
C |
7: 40,935,959 (GRCm39) |
S154R |
probably damaging |
Het |
Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,815,365 (GRCm39) |
E586G |
probably damaging |
Het |
Gstp2 |
A |
T |
19: 4,090,499 (GRCm39) |
I162N |
probably benign |
Het |
Lin7a |
T |
A |
10: 107,216,076 (GRCm39) |
|
probably null |
Het |
Loxl4 |
G |
A |
19: 42,583,817 (GRCm39) |
L745F |
probably benign |
Het |
Ms4a19 |
T |
A |
19: 11,140,811 (GRCm39) |
M3L |
probably benign |
Het |
Mybpc1 |
A |
G |
10: 88,404,481 (GRCm39) |
I172T |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,647,161 (GRCm39) |
W571R |
possibly damaging |
Het |
Nkx2-5 |
G |
C |
17: 27,060,095 (GRCm39) |
P79A |
probably benign |
Het |
Nufip2 |
A |
G |
11: 77,582,487 (GRCm39) |
T134A |
probably benign |
Het |
Odad1 |
A |
G |
7: 45,591,134 (GRCm39) |
E203G |
probably damaging |
Het |
Or13p4 |
G |
A |
4: 118,547,728 (GRCm39) |
|
probably benign |
Het |
Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
Or5b109 |
A |
G |
19: 13,212,468 (GRCm39) |
M285V |
possibly damaging |
Het |
Phkb |
A |
G |
8: 86,745,171 (GRCm39) |
D616G |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Prl7b1 |
A |
T |
13: 27,786,878 (GRCm39) |
|
probably null |
Het |
Prop1 |
G |
A |
11: 50,843,026 (GRCm39) |
P54S |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,226,314 (GRCm38) |
D527E |
probably damaging |
Het |
Rapgef2 |
C |
T |
3: 78,986,439 (GRCm39) |
V1182I |
probably benign |
Het |
Rfx7 |
C |
A |
9: 72,525,696 (GRCm39) |
P962Q |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Slc38a9 |
A |
G |
13: 112,862,634 (GRCm39) |
I444M |
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,310,263 (GRCm39) |
T492A |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,735,518 (GRCm39) |
S1478R |
probably benign |
Het |
Tnn |
T |
A |
1: 159,972,774 (GRCm39) |
N276I |
probably damaging |
Het |
Trbv19 |
G |
A |
6: 41,155,692 (GRCm39) |
G21D |
probably damaging |
Het |
Ube2o |
A |
T |
11: 116,430,185 (GRCm39) |
D1184E |
probably benign |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,691,977 (GRCm39) |
L182* |
probably null |
Het |
Vmn2r15 |
A |
G |
5: 109,434,137 (GRCm39) |
*856R |
probably null |
Het |
Vmn2r70 |
G |
A |
7: 85,208,087 (GRCm39) |
H797Y |
probably benign |
Het |
Zfp11 |
C |
T |
5: 129,733,587 (GRCm39) |
A625T |
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 |
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'- AACCTCTGTTAAGAATGGAGGC -3'
(R):5'- TGAAGTGGTATAAGGACCTAATACC -3'
Sequencing Primer
(F):5'- TGAAGGTCCTGAGTTGAAATCCC -3'
(R):5'- GTGGTATAAGGACCTAATACCTTCAG -3'
|
Posted On |
2018-04-02 |