Incidental Mutation 'R0759:Ptdss1'
| ID |
70016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptdss1
|
| Ensembl Gene |
ENSMUSG00000021518 |
| Gene Name |
phosphatidylserine synthase 1 |
| Synonyms |
PtdSer Synthase-1, PSS-1 |
| MMRRC Submission |
038939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67080894-67146465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67135868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 375
(L375P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021990]
[ENSMUST00000224244]
|
| AlphaFold |
Q99LH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021990
AA Change: L375P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: L375P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
72 |
89 |
N/A |
INTRINSIC |
|
Pfam:PSS
|
96 |
372 |
1.3e-108 |
PFAM |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
464 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224244
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225347
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,384,454 (GRCm39) |
F504I |
possibly damaging |
Het |
| Amdhd2 |
C |
A |
17: 24,380,587 (GRCm39) |
C119F |
probably benign |
Het |
| Arhgef18 |
T |
G |
8: 3,438,822 (GRCm39) |
|
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,290,652 (GRCm39) |
Y76N |
probably damaging |
Het |
| C1s1 |
T |
C |
6: 124,508,396 (GRCm39) |
N531S |
probably damaging |
Het |
| Ces1c |
G |
A |
8: 93,857,492 (GRCm39) |
Q30* |
probably null |
Het |
| Cltc |
A |
C |
11: 86,627,908 (GRCm39) |
I80S |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,954 (GRCm39) |
C24Y |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,707,066 (GRCm39) |
I348V |
probably damaging |
Het |
| Elavl1 |
C |
A |
8: 4,339,815 (GRCm39) |
D256Y |
probably damaging |
Het |
| Fubp1 |
TGGCGGCGGCGGCGGCGG |
TGGCGGCGGCGGCGGCGGCGG |
3: 151,916,274 (GRCm39) |
|
probably benign |
Het |
| Gm43434 |
T |
G |
14: 54,382,952 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
A |
2: 129,146,607 (GRCm39) |
D162V |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,745,162 (GRCm39) |
Y1227H |
possibly damaging |
Het |
| Myb |
C |
T |
10: 21,020,927 (GRCm39) |
V501I |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,382,998 (GRCm39) |
I1238T |
possibly damaging |
Het |
| Nr0b2 |
A |
T |
4: 133,281,049 (GRCm39) |
Q105L |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,088,707 (GRCm39) |
Y431* |
probably null |
Het |
| Plg |
A |
G |
17: 12,629,838 (GRCm39) |
H624R |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,641 (GRCm39) |
S885P |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,106,768 (GRCm39) |
D347G |
probably benign |
Het |
| Sbf1 |
A |
T |
15: 89,188,919 (GRCm39) |
V573E |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,143,714 (GRCm39) |
I400N |
probably damaging |
Het |
| Slurp1 |
A |
G |
15: 74,598,808 (GRCm39) |
F61S |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,860 (GRCm39) |
E231G |
probably benign |
Het |
| Sned1 |
C |
T |
1: 93,200,286 (GRCm39) |
T564M |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Trim35 |
T |
A |
14: 66,546,236 (GRCm39) |
D334E |
probably benign |
Het |
| Trp53i11 |
A |
G |
2: 93,029,303 (GRCm39) |
T101A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,299,097 (GRCm39) |
N2514D |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,475,124 (GRCm39) |
Y634N |
probably damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,385 (GRCm39) |
*312Q |
probably null |
Het |
|
| Other mutations in Ptdss1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01825:Ptdss1
|
APN |
13 |
67,135,886 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02798:Ptdss1
|
APN |
13 |
67,124,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Ptdss1
|
APN |
13 |
67,142,058 (GRCm39) |
nonsense |
probably null |
|
|
BB009:Ptdss1
|
UTSW |
13 |
67,114,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Ptdss1
|
UTSW |
13 |
67,114,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Ptdss1
|
UTSW |
13 |
67,081,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Ptdss1
|
UTSW |
13 |
67,120,714 (GRCm39) |
splice site |
probably benign |
|
|
R0749:Ptdss1
|
UTSW |
13 |
67,135,914 (GRCm39) |
nonsense |
probably null |
|
|
R1140:Ptdss1
|
UTSW |
13 |
67,111,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1500:Ptdss1
|
UTSW |
13 |
67,143,472 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1676:Ptdss1
|
UTSW |
13 |
67,081,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Ptdss1
|
UTSW |
13 |
67,104,476 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2086:Ptdss1
|
UTSW |
13 |
67,101,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2087:Ptdss1
|
UTSW |
13 |
67,124,881 (GRCm39) |
splice site |
probably benign |
|
|
R3962:Ptdss1
|
UTSW |
13 |
67,142,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4662:Ptdss1
|
UTSW |
13 |
67,081,675 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4707:Ptdss1
|
UTSW |
13 |
67,143,482 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4775:Ptdss1
|
UTSW |
13 |
67,135,922 (GRCm39) |
splice site |
probably null |
|
|
R4993:Ptdss1
|
UTSW |
13 |
67,093,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5402:Ptdss1
|
UTSW |
13 |
67,081,663 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5463:Ptdss1
|
UTSW |
13 |
67,093,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Ptdss1
|
UTSW |
13 |
67,120,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Ptdss1
|
UTSW |
13 |
67,120,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6043:Ptdss1
|
UTSW |
13 |
67,111,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Ptdss1
|
UTSW |
13 |
67,120,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6726:Ptdss1
|
UTSW |
13 |
67,101,595 (GRCm39) |
nonsense |
probably null |
|
|
R7016:Ptdss1
|
UTSW |
13 |
67,120,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7116:Ptdss1
|
UTSW |
13 |
67,093,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7339:Ptdss1
|
UTSW |
13 |
67,111,426 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7836:Ptdss1
|
UTSW |
13 |
67,081,719 (GRCm39) |
missense |
probably benign |
|
|
R7932:Ptdss1
|
UTSW |
13 |
67,114,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Ptdss1
|
UTSW |
13 |
67,143,411 (GRCm39) |
missense |
probably benign |
|
|
R8015:Ptdss1
|
UTSW |
13 |
67,111,407 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8237:Ptdss1
|
UTSW |
13 |
67,124,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8767:Ptdss1
|
UTSW |
13 |
67,101,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF044:Ptdss1
|
UTSW |
13 |
67,093,412 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGACAGTGGGTTCTCTGTGCTTC -3'
(R):5'- TGGCTACAGTGACACATTGCAGATAC -3'
Sequencing Primer
(F):5'- ACTCTCCAGTAATGCTGAGTG -3'
(R):5'- CACATTGCAGATACTGTAAGGCTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation