Incidental Mutation 'R5800:Ptcd1'
| ID |
447345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptcd1
|
| Ensembl Gene |
ENSMUSG00000029624 |
| Gene Name |
pentatricopeptide repeat domain 1 |
| Synonyms |
1110069M14Rik |
| MMRRC Submission |
043389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R5800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145084324-145103918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145096475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 206
(D206V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031628]
|
| AlphaFold |
Q8C2E4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031628
AA Change: D206V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624
AA Change: D206V
| 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 |
|
| Meta Mutation Damage Score |
0.2311 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (50/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
| Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
| B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
| Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
| Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
| Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
| Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
| Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
| H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
| Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
| Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
| Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
| Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
| Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
| Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
| Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
| Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
| Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
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 |
|
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 |
|
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'- CGACTGACTTTGAAGGCAAGG -3'
(R):5'- CCAGTCAGGAGTTTGGATACTG -3'
Sequencing Primer
(F):5'- TTGAAGACATCCAGGCACAG -3'
(R):5'- ATACTGTATACGAGGTGCCACTTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation