Incidental Mutation 'R4201:Pgs1'
| ID |
318762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgs1
|
| Ensembl Gene |
ENSMUSG00000017715 |
| Gene Name |
phosphatidylglycerophosphate synthase 1 |
| Synonyms |
2610019F11Rik, 4933424M23Rik |
| MMRRC Submission |
041031-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
117877118-117914837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117893362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 230
(S230G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100185]
[ENSMUST00000132676]
|
| AlphaFold |
Q8BHF7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000017859
AA Change: S228G
|
| SMART Domains |
Protein: ENSMUSP00000017859
Gene: ENSMUSG00000017715
AA Change: S228G
| 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 damaging
Transcript: ENSMUST00000100185
AA Change: S100G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097760
Gene: ENSMUSG00000017715
AA Change: S100G
| 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 damaging
Transcript: ENSMUST00000132676
AA Change: S230G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121973
Gene: ENSMUSG00000017715
AA Change: S230G
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,623,952 (GRCm39) |
|
probably null |
Het |
| Als2 |
A |
T |
1: 59,219,313 (GRCm39) |
D1212E |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,495,530 (GRCm39) |
S1167P |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,494,295 (GRCm39) |
V66A |
possibly damaging |
Het |
| Bag3 |
C |
A |
7: 128,147,881 (GRCm39) |
L499I |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,310,981 (GRCm39) |
D751G |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,359,587 (GRCm39) |
Y145C |
probably benign |
Het |
| Ccdc172 |
G |
A |
19: 58,525,017 (GRCm39) |
R158H |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cd9 |
T |
C |
6: 125,439,357 (GRCm39) |
D125G |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,834 (GRCm39) |
I1493V |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,359 (GRCm39) |
D57G |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,972,238 (GRCm39) |
R1201W |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 30,984,227 (GRCm39) |
V3976A |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,394 (GRCm39) |
D3317G |
possibly damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,512,337 (GRCm39) |
E353* |
probably null |
Het |
| Gch1 |
T |
C |
14: 47,393,260 (GRCm39) |
S241G |
probably benign |
Het |
| Gpr22 |
A |
T |
12: 31,758,912 (GRCm39) |
Y366* |
probably null |
Het |
| Gse1 |
A |
T |
8: 121,294,503 (GRCm39) |
M277L |
probably benign |
Het |
| Kcnt2 |
G |
A |
1: 140,353,070 (GRCm39) |
V260I |
probably damaging |
Het |
| Nbas |
G |
T |
12: 13,424,827 (GRCm39) |
C1022F |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,497 (GRCm39) |
L274H |
probably damaging |
Het |
| Parp4 |
C |
A |
14: 56,829,848 (GRCm39) |
T274K |
possibly damaging |
Het |
| Plin4 |
T |
G |
17: 56,411,338 (GRCm39) |
T898P |
probably damaging |
Het |
| Ptprj |
A |
C |
2: 90,293,439 (GRCm39) |
V548G |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,048,791 (GRCm39) |
I139M |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,297,870 (GRCm39) |
D1142E |
probably benign |
Het |
| Tbccd1 |
A |
G |
16: 22,644,698 (GRCm39) |
V226A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmed7 |
A |
G |
18: 46,726,314 (GRCm39) |
|
probably null |
Het |
| Tnfrsf23 |
A |
T |
7: 143,223,791 (GRCm39) |
C137S |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
|
| Other mutations in Pgs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Pgs1
|
APN |
11 |
117,896,366 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAGGAAGAACTCTCGCACTATG -3'
(R):5'- ATGGTACGGAGACTAGGCAC -3'
Sequencing Primer
(F):5'- AAGAACTCTCGCACTATGCTGCTC -3'
(R):5'- TCAGCACAGCAGTCAGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation