Incidental Mutation 'IGL00943:Pgs1'
| ID |
28558 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pgs1
|
| Ensembl Gene |
ENSMUSG00000017715 |
| Gene Name |
phosphatidylglycerophosphate synthase 1 |
| Synonyms |
2610019F11Rik, 4933424M23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00943
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
117877118-117914837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117896366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 348
(I348V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100185]
[ENSMUST00000132676]
|
| AlphaFold |
Q8BHF7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000017859
AA Change: I346V
|
| SMART Domains |
Protein: ENSMUSP00000017859
Gene: ENSMUSG00000017715
AA Change: I346V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
56 |
N/A |
INTRINSIC |
|
SCOP:d1f0ia1
|
70 |
287 |
4e-25 |
SMART |
|
PDB:3HSI|C
|
81 |
464 |
7e-8 |
PDB |
|
Blast:PLDc
|
211 |
237 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100185
AA Change: I218V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000097760
Gene: ENSMUSG00000017715
AA Change: I218V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f0ia1
|
18 |
158 |
7e-13 |
SMART |
|
Blast:PLDc
|
82 |
108 |
1e-8 |
BLAST |
|
low complexity region
|
202 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132676
AA Change: I348V
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121973
Gene: ENSMUSG00000017715
AA Change: I348V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
57 |
N/A |
INTRINSIC |
|
SCOP:d1f0ia1
|
71 |
288 |
3e-25 |
SMART |
|
PDB:3HSI|C
|
82 |
475 |
3e-9 |
PDB |
|
Blast:PLDc
|
212 |
238 |
2e-8 |
BLAST |
|
Blast:PLDc
|
459 |
490 |
1e-13 |
BLAST |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184982
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
G |
2: 31,680,824 (GRCm39) |
Y372C |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,295,869 (GRCm39) |
V382M |
possibly damaging |
Het |
| Chkb |
A |
T |
15: 89,312,951 (GRCm39) |
V138E |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,806,765 (GRCm39) |
G2434* |
probably null |
Het |
| Cpa3 |
A |
G |
3: 20,282,979 (GRCm39) |
V156A |
possibly damaging |
Het |
| Dicer1 |
A |
C |
12: 104,663,031 (GRCm39) |
S1517A |
possibly damaging |
Het |
| Dnajc14 |
T |
G |
10: 128,652,675 (GRCm39) |
S578A |
possibly damaging |
Het |
| Dse |
A |
G |
10: 34,038,801 (GRCm39) |
Y201H |
probably damaging |
Het |
| Fam114a2 |
A |
T |
11: 57,405,099 (GRCm39) |
M1K |
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,469,922 (GRCm39) |
S50R |
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,808,938 (GRCm39) |
Y220C |
probably damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,189,638 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
| Ino80b |
A |
T |
6: 83,101,129 (GRCm39) |
L116Q |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,290,163 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
T |
C |
8: 4,285,658 (GRCm39) |
C628R |
probably damaging |
Het |
| Maml1 |
A |
G |
11: 50,149,541 (GRCm39) |
V733A |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,424,685 (GRCm39) |
L635P |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,986,176 (GRCm39) |
I1549F |
probably damaging |
Het |
| Myo1b |
T |
A |
1: 51,823,646 (GRCm39) |
I414F |
probably damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,782,981 (GRCm39) |
I159F |
possibly damaging |
Het |
| Nvl |
A |
T |
1: 180,929,199 (GRCm39) |
D727E |
possibly damaging |
Het |
| Or1l4 |
T |
C |
2: 37,092,183 (GRCm39) |
V310A |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,805,922 (GRCm39) |
V592E |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,506,477 (GRCm39) |
D624G |
probably benign |
Het |
| Slc39a6 |
A |
G |
18: 24,722,802 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
T |
C |
19: 40,283,484 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,261,631 (GRCm39) |
M56K |
possibly damaging |
Het |
| Togaram2 |
C |
T |
17: 72,031,999 (GRCm39) |
R873C |
probably damaging |
Het |
| Tubgcp6 |
G |
A |
15: 89,006,600 (GRCm39) |
R141* |
probably null |
Het |
| Vill |
A |
G |
9: 118,892,380 (GRCm39) |
E337G |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,185 (GRCm39) |
L11S |
possibly damaging |
Het |
|
| Other mutations in Pgs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1703:Pgs1
|
UTSW |
11 |
117,905,554 (GRCm39) |
splice site |
probably benign |
|
|
R1747:Pgs1
|
UTSW |
11 |
117,892,457 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1938:Pgs1
|
UTSW |
11 |
117,896,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Pgs1
|
UTSW |
11 |
117,893,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2066:Pgs1
|
UTSW |
11 |
117,905,396 (GRCm39) |
splice site |
probably benign |
|
|
R3826:Pgs1
|
UTSW |
11 |
117,910,584 (GRCm39) |
splice site |
probably null |
|
|
R3915:Pgs1
|
UTSW |
11 |
117,910,472 (GRCm39) |
missense |
probably benign |
|
|
R4201:Pgs1
|
UTSW |
11 |
117,893,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Pgs1
|
UTSW |
11 |
117,910,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4668:Pgs1
|
UTSW |
11 |
117,894,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4718:Pgs1
|
UTSW |
11 |
117,896,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Pgs1
|
UTSW |
11 |
117,896,719 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4974:Pgs1
|
UTSW |
11 |
117,896,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5414:Pgs1
|
UTSW |
11 |
117,905,502 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6053:Pgs1
|
UTSW |
11 |
117,892,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6382:Pgs1
|
UTSW |
11 |
117,894,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Pgs1
|
UTSW |
11 |
117,893,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9777:Pgs1
|
UTSW |
11 |
117,894,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pgs1
|
UTSW |
11 |
117,896,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation