Incidental Mutation 'IGL00858:Ptcd1'
| ID |
13205 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptcd1
|
| Ensembl Gene |
ENSMUSG00000029624 |
| Gene Name |
pentatricopeptide repeat domain 1 |
| Synonyms |
1110069M14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL00858
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
145084324-145103918 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 145088092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031628]
[ENSMUST00000159018]
[ENSMUST00000160075]
[ENSMUST00000162308]
[ENSMUST00000162594]
|
| AlphaFold |
Q8C2E4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031628
|
| SMART Domains |
Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159018
|
| SMART Domains |
Protein: ENSMUSP00000124999
Gene: ENSMUSG00000038722
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G10
|
1 |
144 |
2.2e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160075
|
| SMART Domains |
Protein: ENSMUSP00000125564
Gene: ENSMUSG00000038722
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G10
|
1 |
144 |
2.2e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160840
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162308
|
| SMART Domains |
Protein: ENSMUSP00000125590
Gene: ENSMUSG00000038722
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G10
|
29 |
103 |
9.4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162594
|
| SMART Domains |
Protein: ENSMUSP00000125738
Gene: ENSMUSG00000038722
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G10
|
1 |
144 |
2.2e-69 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,967,537 (GRCm39) |
V988M |
probably damaging |
Het |
| Afap1l1 |
G |
A |
18: 61,869,925 (GRCm39) |
T635M |
probably benign |
Het |
| B4galnt1 |
A |
G |
10: 127,003,633 (GRCm39) |
T199A |
probably benign |
Het |
| Ccdc183 |
T |
A |
2: 25,499,783 (GRCm39) |
M378L |
probably benign |
Het |
| Ccser1 |
C |
A |
6: 61,787,649 (GRCm39) |
S134* |
probably null |
Het |
| Cluh |
A |
G |
11: 74,550,431 (GRCm39) |
K248E |
possibly damaging |
Het |
| Cpa6 |
T |
A |
1: 10,554,219 (GRCm39) |
R129S |
probably damaging |
Het |
| Cyp2c29 |
T |
A |
19: 39,296,100 (GRCm39) |
V138D |
probably damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,692 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,545,720 (GRCm39) |
N841S |
possibly damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,861,452 (GRCm39) |
I98N |
probably damaging |
Het |
| Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,455,217 (GRCm39) |
M3L |
probably benign |
Het |
| Mtch1 |
C |
T |
17: 29,559,430 (GRCm39) |
D74N |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,578,493 (GRCm39) |
V1588A |
probably damaging |
Het |
| Pbk |
T |
C |
14: 66,049,373 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,029,241 (GRCm39) |
I438F |
probably damaging |
Het |
| Tas2r113 |
C |
A |
6: 132,870,115 (GRCm39) |
R48S |
probably benign |
Het |
| Tektl1 |
T |
C |
10: 78,586,403 (GRCm39) |
D216G |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,915,962 (GRCm39) |
|
probably null |
Het |
| Tnnt2 |
G |
A |
1: 135,779,440 (GRCm39) |
V277I |
probably damaging |
Het |
| Twnk |
G |
T |
19: 44,996,065 (GRCm39) |
W166L |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,644,987 (GRCm39) |
L580F |
possibly damaging |
Het |
| Utp20 |
T |
A |
10: 88,645,000 (GRCm39) |
E575D |
probably benign |
Het |
|
| Other mutations in Ptcd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4460:Ptcd1
|
UTSW |
5 |
145,096,316 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation