Incidental Mutation 'R0749:Ptdss1'
| ID |
70262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptdss1
|
| Ensembl Gene |
ENSMUSG00000021518 |
| Gene Name |
phosphatidylserine synthase 1 |
| Synonyms |
PtdSer Synthase-1, PSS-1 |
| MMRRC Submission |
038929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67080894-67146465 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 67135914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 390
(C390*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021990]
[ENSMUST00000224244]
|
| AlphaFold |
Q99LH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021990
AA Change: C390*
|
| SMART Domains |
Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: C390*
| 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: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aprt |
A |
T |
8: 123,302,149 (GRCm39) |
Y105N |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,100,009 (GRCm39) |
S109T |
possibly damaging |
Het |
| Bbs9 |
T |
C |
9: 22,486,497 (GRCm39) |
|
probably null |
Het |
| Bmp4 |
T |
C |
14: 46,622,070 (GRCm39) |
E158G |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,568 (GRCm39) |
*418W |
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,612,250 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,987 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
A |
9: 24,373,880 (GRCm39) |
H270L |
probably benign |
Het |
| Fdxr |
A |
G |
11: 115,167,671 (GRCm39) |
S15P |
probably benign |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
G |
A |
3: 95,515,260 (GRCm39) |
R134Q |
probably damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,565 (GRCm39) |
T183A |
probably damaging |
Het |
| Krt1c |
T |
G |
15: 101,726,098 (GRCm39) |
S147R |
unknown |
Het |
| Lipn |
T |
C |
19: 34,054,379 (GRCm39) |
S206P |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,136 (GRCm39) |
|
probably null |
Het |
| Metap2 |
T |
C |
10: 93,715,429 (GRCm39) |
E133G |
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,210,648 (GRCm39) |
Y480C |
probably damaging |
Het |
| Oma1 |
C |
T |
4: 103,182,496 (GRCm39) |
Q300* |
probably null |
Het |
| Pcnt |
T |
C |
10: 76,217,198 (GRCm39) |
E2161G |
probably damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Sars1 |
A |
C |
3: 108,335,582 (GRCm39) |
F389V |
possibly damaging |
Het |
| Sec31b |
C |
T |
19: 44,512,945 (GRCm39) |
V515M |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,048,571 (GRCm39) |
E587G |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,099,636 (GRCm39) |
E417G |
possibly damaging |
Het |
| Tmem63b |
A |
G |
17: 45,977,041 (GRCm39) |
F442S |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,472 (GRCm39) |
D965G |
possibly damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,882 (GRCm39) |
V72A |
probably damaging |
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 |
|
|
R0759:Ptdss1
|
UTSW |
13 |
67,135,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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