Incidental Mutation 'IGL01120:Ptcd1'
| ID |
51143 |
| 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: 0.118)
|
| Stock # |
IGL01120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
145084324-145103918 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 145089053 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
T |
A |
5: 135,040,329 (GRCm39) |
|
probably null |
Het |
| Armcx5 |
T |
C |
X: 134,647,112 (GRCm39) |
I396T |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,372,422 (GRCm39) |
|
probably null |
Het |
| Atp6v1c2 |
C |
T |
12: 17,358,294 (GRCm39) |
E88K |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,724,343 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Cyp3a59 |
T |
A |
5: 146,039,671 (GRCm39) |
S315T |
probably damaging |
Het |
| Dnaja1 |
T |
A |
4: 40,730,248 (GRCm39) |
I240N |
probably damaging |
Het |
| Dnttip2 |
C |
T |
3: 122,072,386 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
A |
T |
4: 91,152,309 (GRCm39) |
M136K |
probably damaging |
Het |
| Eml5 |
C |
T |
12: 98,810,278 (GRCm39) |
V893I |
probably benign |
Het |
| Fbxw4 |
G |
T |
19: 45,628,955 (GRCm39) |
A2E |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,108,475 (GRCm39) |
S168A |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,794,102 (GRCm39) |
T857I |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,208,495 (GRCm39) |
K797E |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,336,162 (GRCm39) |
F1569S |
probably benign |
Het |
| Kash5 |
G |
T |
7: 44,833,622 (GRCm39) |
S560Y |
probably damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,610,836 (GRCm39) |
V524A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,798,104 (GRCm39) |
L708P |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,606,146 (GRCm39) |
|
probably benign |
Het |
| Or10ab4 |
T |
G |
7: 107,654,774 (GRCm39) |
M195R |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
| Palm |
A |
G |
10: 79,652,621 (GRCm39) |
|
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,962,739 (GRCm39) |
V462A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,708 (GRCm39) |
|
probably null |
Het |
| Pkp3 |
T |
A |
7: 140,664,095 (GRCm39) |
L424* |
probably null |
Het |
| Prss29 |
A |
G |
17: 25,541,107 (GRCm39) |
K184E |
probably benign |
Het |
| Prss3b |
A |
T |
6: 41,008,607 (GRCm39) |
Y236N |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,556,198 (GRCm39) |
H225R |
probably damaging |
Het |
| Rffl |
C |
T |
11: 82,696,848 (GRCm39) |
V332I |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,325,230 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,876,472 (GRCm39) |
L648P |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,357,316 (GRCm39) |
K986R |
probably benign |
Het |
| Slc22a15 |
A |
G |
3: 101,804,482 (GRCm39) |
L181P |
probably damaging |
Het |
| Slc34a1 |
T |
A |
13: 55,556,884 (GRCm39) |
L241H |
probably damaging |
Het |
| Slc4a4 |
C |
A |
5: 89,280,238 (GRCm39) |
H354Q |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,178,596 (GRCm39) |
E1131G |
probably damaging |
Het |
| Ssc4d |
C |
A |
5: 135,996,817 (GRCm39) |
D95Y |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,850,594 (GRCm39) |
D290V |
probably damaging |
Het |
| Thyn1 |
T |
A |
9: 26,915,070 (GRCm39) |
M74K |
probably benign |
Het |
| Tlr4 |
C |
T |
4: 66,758,662 (GRCm39) |
T485I |
probably benign |
Het |
| Trem1 |
A |
G |
17: 48,544,277 (GRCm39) |
T101A |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,202,141 (GRCm39) |
E387G |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,259 (GRCm39) |
T127S |
probably benign |
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation