Incidental Mutation 'IGL01825:Ptdss1'
| ID |
154643 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptdss1
|
| Ensembl Gene |
ENSMUSG00000021518 |
| Gene Name |
phosphatidylserine synthase 1 |
| Synonyms |
PtdSer Synthase-1, PSS-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67080894-67146465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67135886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 381
(I381T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021990]
[ENSMUST00000224244]
|
| AlphaFold |
Q99LH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021990
AA Change: I381T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: I381T
| 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 |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,069,217 (GRCm39) |
E222G |
probably damaging |
Het |
| Aftph |
T |
A |
11: 20,676,569 (GRCm39) |
I347F |
possibly damaging |
Het |
| Braf |
T |
C |
6: 39,616,524 (GRCm39) |
D549G |
probably damaging |
Het |
| Cnbd2 |
T |
A |
2: 156,180,629 (GRCm39) |
L142Q |
probably damaging |
Het |
| Ctbp1 |
C |
T |
5: 33,416,477 (GRCm39) |
|
probably null |
Het |
| Cuta |
T |
C |
17: 27,157,438 (GRCm39) |
I98V |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,108,514 (GRCm39) |
C1226* |
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,042,759 (GRCm39) |
E3221G |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,561,600 (GRCm39) |
L750P |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,307,089 (GRCm39) |
Y970H |
probably benign |
Het |
| Hnrnpr |
T |
A |
4: 136,066,850 (GRCm39) |
Y470* |
probably null |
Het |
| Kmt2c |
T |
A |
5: 25,515,594 (GRCm39) |
I2750F |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,845,886 (GRCm39) |
T772S |
probably damaging |
Het |
| Mthfd2 |
T |
C |
6: 83,287,493 (GRCm39) |
T191A |
probably benign |
Het |
| Or5p78 |
C |
A |
7: 108,212,261 (GRCm39) |
T249K |
probably damaging |
Het |
| Pfkp |
A |
T |
13: 6,671,014 (GRCm39) |
N175K |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,949,642 (GRCm39) |
D451G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,471,210 (GRCm39) |
C994S |
probably damaging |
Het |
| Scgb2b24 |
G |
T |
7: 33,438,652 (GRCm39) |
T20K |
probably damaging |
Het |
| Slc23a1 |
A |
T |
18: 35,757,256 (GRCm39) |
W272R |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,737,167 (GRCm39) |
T1428I |
probably benign |
Het |
| Tnfsf9 |
A |
G |
17: 57,414,335 (GRCm39) |
D254G |
possibly damaging |
Het |
| Ttc4 |
C |
T |
4: 106,528,816 (GRCm39) |
|
probably null |
Het |
| Xdh |
A |
G |
17: 74,198,240 (GRCm39) |
Y1216H |
probably damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,753,889 (GRCm39) |
N159K |
possibly damaging |
Het |
|
| Other mutations in Ptdss1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation