Incidental Mutation 'RF044:Ptdss1'
| ID |
604973 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF044 (G1)
|
| Quality Score |
100.008 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67080894-67146465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67093412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 84
(S84I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021990]
[ENSMUST00000224244]
[ENSMUST00000224290]
|
| AlphaFold |
Q99LH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021990
AA Change: S84I
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: S84I
| 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 |
possibly damaging
Transcript: ENSMUST00000224290
AA Change: S84I
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225347
AA Change: Q8H
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TG |
TGTGGCTGCCG |
1: 82,891,310 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCATCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,296 (GRCm39) |
|
probably null |
Het |
| Ccdc85c |
GCC |
GCCACC |
12: 108,240,871 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCGGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
| Crtam |
TTCTTGATCTGAA |
T |
9: 40,895,650 (GRCm39) |
|
probably null |
Het |
| Dspp |
TGACAGCAGCGACAGCAG |
TGACAGCAGCGACAGCAGAGACAGCAGCGACAGCAG |
5: 104,326,290 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,079 (GRCm39) |
|
probably benign |
Het |
| F830016B08Rik |
AAAAAA |
AAAAAAAAA |
18: 60,433,010 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTCCT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTC |
CTCCGGATC |
X: 71,313,667 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Haus4 |
AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG |
AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG |
14: 54,781,577 (GRCm39) |
|
probably null |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATCG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,852 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,774 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
CCAC |
CCACCTCAC |
9: 75,295,542 (GRCm39) |
|
probably null |
Het |
| Morn4 |
GTGAG |
GTGAGTCAAGCATTGAG |
19: 42,064,553 (GRCm39) |
|
probably null |
Het |
| Nefh |
CCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,023 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
AAAATA |
AAAATAAATA |
9: 39,598,043 (GRCm39) |
|
probably null |
Het |
| Phc1 |
TG |
TGCTGCGG |
6: 122,300,559 (GRCm39) |
|
probably benign |
Het |
| Pla2g4e |
AGGG |
A |
2: 120,075,205 (GRCm39) |
|
probably benign |
Het |
| Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
| Ren1 |
ACCGC |
AC |
1: 133,278,519 (GRCm39) |
|
probably benign |
Het |
| Rinl |
G |
T |
7: 28,496,988 (GRCm39) |
G496V |
probably damaging |
Het |
| Ryr3 |
CTGA |
C |
2: 112,740,869 (GRCm39) |
|
probably benign |
Het |
| Sbp |
A |
AAAAAGATGATGACAC |
17: 24,164,340 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
GTC |
GTCATCATGATCACCATGGTCACCATGATCACTGTGTTC |
15: 76,499,070 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCTCGC |
TCTCGCGCTCGC |
4: 34,049,846 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCGCGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
| Strn |
C |
CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTA |
17: 78,984,717 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
GCA |
GCAACA |
11: 94,105,287 (GRCm39) |
|
probably benign |
Het |
| Zfp683 |
TGTGG |
TGTGGTGG |
4: 133,786,185 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTCAGCAAAAGTAAGTCTGC -3'
(R):5'- CCTGTTATCCCCATCAAACAGG -3'
Sequencing Primer
(F):5'- AAGTAAGTCTGCAATCCCTGGTG -3'
(R):5'- CACATTTAAGGATATGGGGGCCAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation