Incidental Mutation 'R7889:Ptcd3'
| ID |
609209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptcd3
|
| Ensembl Gene |
ENSMUSG00000063884 |
| Gene Name |
pentatricopeptide repeat domain 3 |
| Synonyms |
2610034F17Rik, 2810422B04Rik |
| MMRRC Submission |
045941-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71865592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 441
(T441M)
|
| 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: T441M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: T441M
| 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: ENSMUST00000205556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206879
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
A |
G |
3: 37,632,959 (GRCm39) |
D855G |
probably benign |
Het |
| Angptl3 |
C |
T |
4: 98,919,308 (GRCm39) |
L23F |
probably benign |
Het |
| Art2a |
C |
T |
7: 101,204,418 (GRCm39) |
S40N |
not run |
Het |
| Ash1l |
A |
G |
3: 88,873,345 (GRCm39) |
T43A |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,105,631 (GRCm39) |
|
probably null |
Het |
| Azi2 |
A |
G |
9: 117,890,983 (GRCm39) |
E336G |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,800,051 (GRCm39) |
H419R |
probably damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,544,206 (GRCm39) |
S903T |
probably damaging |
Het |
| Cep72 |
A |
T |
13: 74,198,241 (GRCm39) |
S380T |
possibly damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,516,574 (GRCm39) |
E341* |
probably null |
Het |
| Clcnkb |
T |
G |
4: 141,137,915 (GRCm39) |
I294L |
probably benign |
Het |
| Csnk2a1-ps3 |
G |
A |
1: 156,352,965 (GRCm39) |
A389T |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,027 (GRCm39) |
M350K |
probably damaging |
Het |
| Dhx40 |
T |
G |
11: 86,689,793 (GRCm39) |
I266L |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,448,560 (GRCm39) |
E4208* |
probably null |
Het |
| Dync2i1 |
T |
A |
12: 116,219,559 (GRCm39) |
K128* |
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,498,353 (GRCm39) |
N242S |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,590,744 (GRCm39) |
F478Y |
probably benign |
Het |
| Fastkd2 |
C |
G |
1: 63,774,619 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
T |
A |
16: 36,790,012 (GRCm39) |
D366V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 24,903,551 (GRCm39) |
K95M |
probably damaging |
Het |
| Foxo3 |
T |
A |
10: 42,151,023 (GRCm39) |
Q136L |
probably benign |
Het |
| Gadl1 |
A |
T |
9: 115,783,883 (GRCm39) |
Q236L |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 55,002,873 (GRCm39) |
D560G |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,426,315 (GRCm39) |
S124G |
probably benign |
Het |
| Gkn2 |
A |
G |
6: 87,355,268 (GRCm39) |
|
probably null |
Het |
| Glyctk |
T |
A |
9: 106,033,638 (GRCm39) |
R68W |
unknown |
Het |
| Gm5157 |
G |
A |
7: 20,918,641 (GRCm39) |
P301S |
unknown |
Het |
| Hdc |
A |
T |
2: 126,458,130 (GRCm39) |
I64N |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,940,427 (GRCm39) |
|
probably null |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,583 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,334,591 (GRCm39) |
T273A |
probably benign |
Het |
| Itga4 |
G |
A |
2: 79,146,389 (GRCm39) |
V774I |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,335,751 (GRCm39) |
L2287P |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,598,138 (GRCm39) |
I394N |
probably damaging |
Het |
| Mta1 |
G |
A |
12: 113,095,308 (GRCm39) |
R487H |
probably benign |
Het |
| Neb |
T |
C |
2: 52,037,681 (GRCm39) |
D7049G |
probably benign |
Het |
| Nlrp4f |
G |
A |
13: 65,342,832 (GRCm39) |
S271F |
probably damaging |
Het |
| Noxo1 |
A |
G |
17: 24,918,356 (GRCm39) |
D172G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,150,991 (GRCm39) |
V347E |
probably damaging |
Het |
| Oaf |
G |
T |
9: 43,133,968 (GRCm39) |
A251E |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,715,637 (GRCm39) |
F1039I |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,257,062 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
A |
G |
7: 49,437,049 (GRCm39) |
D208G |
possibly damaging |
Het |
| Rabl6 |
A |
G |
2: 25,474,786 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
T |
A |
19: 58,992,328 (GRCm39) |
I417F |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,030,417 (GRCm39) |
S158P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,717,649 (GRCm39) |
Y232C |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,534,942 (GRCm39) |
T3733I |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,071,855 (GRCm39) |
F512L |
probably benign |
Het |
| Tmem150c |
A |
T |
5: 100,240,963 (GRCm39) |
I30K |
probably damaging |
Het |
| Tnnt1 |
C |
T |
7: 4,511,582 (GRCm39) |
A168T |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,957,983 (GRCm39) |
L308P |
probably damaging |
Het |
| Trp53i11 |
T |
C |
2: 93,029,244 (GRCm39) |
L81P |
probably damaging |
Het |
| Usp16 |
T |
C |
16: 87,271,472 (GRCm39) |
Y344H |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,878,914 (GRCm39) |
E1004G |
unknown |
Het |
| Xrcc5 |
G |
T |
1: 72,395,985 (GRCm39) |
V593L |
probably benign |
Het |
| Zcchc14 |
A |
T |
8: 122,331,634 (GRCm39) |
H576Q |
unknown |
Het |
| Zfp616 |
T |
A |
11: 73,976,271 (GRCm39) |
C847S |
probably damaging |
Het |
| Zfp626 |
A |
T |
7: 27,518,924 (GRCm39) |
Y635F |
probably benign |
Het |
| Zfp799 |
G |
A |
17: 33,038,473 (GRCm39) |
R598* |
probably null |
Het |
| Zfp831 |
A |
G |
2: 174,487,097 (GRCm39) |
K591E |
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 |
|
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'- CTCCCACTGCTGAATCTAGC -3'
(R):5'- TCAGTGCTGGTACTTGAAGC -3'
Sequencing Primer
(F):5'- TCCTTGGTCCAAAATCATGAGGG -3'
(R):5'- CATGGTGATTTTGATAGTACAGTGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation