Incidental Mutation 'R4460:Ptcd1'
| ID |
330100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptcd1
|
| Ensembl Gene |
ENSMUSG00000029624 |
| Gene Name |
pentatricopeptide repeat domain 1 |
| Synonyms |
1110069M14Rik |
| MMRRC Submission |
041719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145084324-145103918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 145096316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 259
(A259E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031628]
|
| AlphaFold |
Q8C2E4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031628
AA Change: A259E
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624
AA Change: A259E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
|
Pfam:PPR_2
|
169 |
218 |
1.2e-16 |
PFAM |
|
Pfam:PPR
|
172 |
202 |
1.1e-9 |
PFAM |
|
Pfam:PPR_3
|
173 |
204 |
2.5e-5 |
PFAM |
|
Pfam:PPR_3
|
245 |
278 |
3.2e-5 |
PFAM |
|
Pfam:PPR
|
246 |
276 |
6.5e-4 |
PFAM |
|
internal_repeat_1
|
437 |
595 |
1.57e-9 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
PHENOTYPE: Knockout affects mitochondrial protein synthesis and RNA metabolism. Homozygous KO is embryonic lethal. Heterozygous KO causes adult onset obesity, liver fibrosis and cardiac hypertrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
A |
G |
5: 107,651,631 (GRCm39) |
T687A |
possibly damaging |
Het |
| C030048H21Rik |
A |
G |
2: 26,145,875 (GRCm39) |
|
probably null |
Het |
| Cav1 |
A |
G |
6: 17,306,471 (GRCm39) |
D8G |
probably damaging |
Het |
| Celf6 |
G |
A |
9: 59,510,327 (GRCm39) |
R103H |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,646,101 (GRCm39) |
I698V |
probably benign |
Het |
| Cts6 |
G |
C |
13: 61,343,272 (GRCm39) |
I316M |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,058,262 (GRCm39) |
R1496L |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,411,519 (GRCm39) |
Y1786H |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,852,281 (GRCm39) |
T1268I |
probably benign |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,586,094 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Mmp9 |
G |
T |
2: 164,790,958 (GRCm39) |
K115N |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,663,645 (GRCm39) |
D339E |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Mx1 |
G |
T |
16: 97,255,281 (GRCm39) |
S113R |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,077,523 (GRCm39) |
H698L |
probably damaging |
Het |
| Nol9 |
T |
G |
4: 152,142,293 (GRCm39) |
L641R |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prkn |
A |
T |
17: 12,280,533 (GRCm39) |
D463V |
probably damaging |
Het |
| Ptov1 |
T |
C |
7: 44,515,000 (GRCm39) |
M204V |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,922,764 (GRCm39) |
S210P |
probably benign |
Het |
| Rgmb |
C |
A |
17: 16,027,888 (GRCm39) |
R277L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,309,516 (GRCm39) |
E22G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tmem143 |
C |
T |
7: 45,556,376 (GRCm39) |
T97I |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,644,991 (GRCm39) |
F12955V |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,255,971 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,852 (GRCm39) |
M211K |
probably damaging |
Het |
| Vmn2r121 |
G |
A |
X: 123,038,281 (GRCm39) |
P580S |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
Het |
|
| Other mutations in Ptcd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00858:Ptcd1
|
APN |
5 |
145,088,092 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00984:Ptcd1
|
APN |
5 |
145,102,239 (GRCm39) |
missense |
probably benign |
|
|
IGL01120:Ptcd1
|
APN |
5 |
145,089,053 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01545:Ptcd1
|
APN |
5 |
145,096,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01861:Ptcd1
|
APN |
5 |
145,095,587 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02543:Ptcd1
|
APN |
5 |
145,091,497 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02835:Ptcd1
|
UTSW |
5 |
145,091,500 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4366001:Ptcd1
|
UTSW |
5 |
145,088,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4494001:Ptcd1
|
UTSW |
5 |
145,092,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3001:Ptcd1
|
UTSW |
5 |
145,096,386 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3002:Ptcd1
|
UTSW |
5 |
145,096,386 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4587:Ptcd1
|
UTSW |
5 |
145,091,531 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4652:Ptcd1
|
UTSW |
5 |
145,091,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5059:Ptcd1
|
UTSW |
5 |
145,089,034 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5364:Ptcd1
|
UTSW |
5 |
145,088,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5367:Ptcd1
|
UTSW |
5 |
145,084,715 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5733:Ptcd1
|
UTSW |
5 |
145,091,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5800:Ptcd1
|
UTSW |
5 |
145,096,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6281:Ptcd1
|
UTSW |
5 |
145,101,881 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6931:Ptcd1
|
UTSW |
5 |
145,091,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:Ptcd1
|
UTSW |
5 |
145,091,540 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7723:Ptcd1
|
UTSW |
5 |
145,091,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Ptcd1
|
UTSW |
5 |
145,088,174 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8048:Ptcd1
|
UTSW |
5 |
145,091,887 (GRCm39) |
missense |
probably benign |
|
|
R8090:Ptcd1
|
UTSW |
5 |
145,096,345 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8774:Ptcd1
|
UTSW |
5 |
145,092,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Ptcd1
|
UTSW |
5 |
145,092,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8952:Ptcd1
|
UTSW |
5 |
145,091,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8990:Ptcd1
|
UTSW |
5 |
145,102,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Ptcd1
|
UTSW |
5 |
145,091,525 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9073:Ptcd1
|
UTSW |
5 |
145,091,525 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9602:Ptcd1
|
UTSW |
5 |
145,096,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9740:Ptcd1
|
UTSW |
5 |
145,096,294 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ptcd1
|
UTSW |
5 |
145,102,245 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGAACCCCAGCATAAAGC -3'
(R):5'- GTGGCTGCTTCTCCTAGAAACAC -3'
Sequencing Primer
(F):5'- AGCACAGACCTGTCTCATTC -3'
(R):5'- AAGAGAGACCTGGAGCCCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation