Incidental Mutation 'R3915:Pgs1'
| ID |
309611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgs1
|
| Ensembl Gene |
ENSMUSG00000017715 |
| Gene Name |
phosphatidylglycerophosphate synthase 1 |
| Synonyms |
2610019F11Rik, 4933424M23Rik |
| MMRRC Submission |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117877118-117914837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 117910472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 528
(S528A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084803]
[ENSMUST00000100185]
[ENSMUST00000106308]
[ENSMUST00000132676]
[ENSMUST00000132685]
|
| AlphaFold |
Q8BHF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017859
|
| SMART Domains |
Protein: ENSMUSP00000017859
Gene: ENSMUSG00000017715
| 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: ENSMUST00000084803
|
| SMART Domains |
Protein: ENSMUSP00000081864
Gene: ENSMUSG00000033987
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHC_N1
|
183 |
766 |
8.5e-142 |
PFAM |
|
low complexity region
|
1015 |
1028 |
N/A |
INTRINSIC |
|
Pfam:DHC_N2
|
1260 |
1673 |
5.8e-135 |
PFAM |
|
Pfam:AAA_6
|
1793 |
2023 |
6e-161 |
PFAM |
|
low complexity region
|
2092 |
2104 |
N/A |
INTRINSIC |
|
Pfam:AAA_5
|
2107 |
2243 |
7.8e-13 |
PFAM |
|
Pfam:AAA_7
|
2400 |
2671 |
1.1e-171 |
PFAM |
|
Pfam:AAA_8
|
2748 |
3015 |
4.9e-166 |
PFAM |
|
Pfam:MT
|
3027 |
3370 |
3.4e-214 |
PFAM |
|
Pfam:AAA_9
|
3388 |
3615 |
2.4e-144 |
PFAM |
|
Pfam:Dynein_heavy
|
3742 |
4452 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100185
|
| SMART Domains |
Protein: ENSMUSP00000097760
Gene: ENSMUSG00000017715
| 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: ENSMUST00000106308
|
| SMART Domains |
Protein: ENSMUSP00000101915
Gene: ENSMUSG00000033987
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHC_N1
|
184 |
764 |
1.7e-152 |
PFAM |
|
low complexity region
|
1015 |
1028 |
N/A |
INTRINSIC |
|
Pfam:DHC_N2
|
1262 |
1671 |
4.1e-132 |
PFAM |
|
Pfam:AAA_6
|
1793 |
2023 |
7e-149 |
PFAM |
|
low complexity region
|
2092 |
2104 |
N/A |
INTRINSIC |
|
Pfam:AAA_5
|
2107 |
2243 |
2.5e-11 |
PFAM |
|
Pfam:AAA_7
|
2400 |
2671 |
4.4e-169 |
PFAM |
|
Pfam:AAA_8
|
2748 |
3015 |
7.1e-163 |
PFAM |
|
Pfam:MT
|
3027 |
3370 |
1.1e-210 |
PFAM |
|
Pfam:AAA_9
|
3392 |
3614 |
1e-84 |
PFAM |
|
Pfam:Dynein_heavy
|
3748 |
4479 |
3.5e-230 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132676
AA Change: S528A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121973
Gene: ENSMUSG00000017715
AA Change: S528A
| 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 |
probably benign
Transcript: ENSMUST00000132685
|
| SMART Domains |
Protein: ENSMUSP00000120542
Gene: ENSMUSG00000033987
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHC_N2
|
279 |
688 |
3.1e-132 |
PFAM |
|
Pfam:AAA_6
|
811 |
1041 |
5.3e-149 |
PFAM |
|
low complexity region
|
1110 |
1122 |
N/A |
INTRINSIC |
|
Blast:AAA
|
1123 |
1354 |
1e-104 |
BLAST |
|
Pfam:AAA_7
|
1452 |
1671 |
8.9e-134 |
PFAM |
|
Pfam:AAA_8
|
1763 |
2030 |
5.4e-163 |
PFAM |
|
Pfam:MT
|
2042 |
2168 |
6.8e-52 |
PFAM |
|
Pfam:MT
|
2163 |
2412 |
8.2e-149 |
PFAM |
|
Pfam:AAA_9
|
2434 |
2656 |
7.9e-85 |
PFAM |
|
Pfam:Dynein_heavy
|
2790 |
3457 |
2.6e-209 |
PFAM |
|
Pfam:Dynein_heavy
|
3460 |
3569 |
4.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155507
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAGCTCTAACTGTTGAGC -3'
(R):5'- GAGCAAAGTCCAGCGCTTAC -3'
Sequencing Primer
(F):5'- CCAGCTCTAACTGTTGAGCTAAATC -3'
(R):5'- AGTCCAGCGCTTACTTTAAAACTGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation