Incidental Mutation 'R5705:Pisd'
| ID |
451912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pisd
|
| Ensembl Gene |
ENSMUSG00000023452 |
| Gene Name |
phosphatidylserine decarboxylase |
| Synonyms |
9030221M09Rik |
| MMRRC Submission |
043330-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5705 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32893645-32942990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32894707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 533
(R533H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061895]
[ENSMUST00000071829]
[ENSMUST00000120591]
[ENSMUST00000135248]
[ENSMUST00000144673]
[ENSMUST00000197787]
[ENSMUST00000142957]
[ENSMUST00000200390]
[ENSMUST00000202283]
|
| AlphaFold |
Q8BSF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061895
AA Change: R363H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452
AA Change: R363H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PS_Dcarbxylase
|
162 |
405 |
1.1e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071829
|
| SMART Domains |
Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PS_Dcarbxylase
|
131 |
260 |
3.9e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120591
AA Change: R332H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112573
Gene: ENSMUSG00000023452
AA Change: R332H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PS_Dcarbxylase
|
131 |
374 |
1.1e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138360
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142779
AA Change: R315H
|
| SMART Domains |
Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452
AA Change: R315H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PS_Dcarbxylase
|
153 |
270 |
1.7e-33 |
PFAM |
|
Pfam:PS_Dcarbxylase
|
268 |
358 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144673
AA Change: R533H
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574
AA Change: R533H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tantalus
|
158 |
193 |
1.2e-15 |
PFAM |
|
Pfam:PS_Dcarbxylase
|
332 |
575 |
2.1e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196545
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202283
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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 conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a null mutation in this gene display embryogenesis defects such as abnormal trophoblast development, abnormal extraembronic tissue morphology and abnormal mitochondrial morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
| Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
| Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
| Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
| Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
| Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
| Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
| Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
| Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
| Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
| Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
| Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
| Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
| Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
| Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
| Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
| Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
| Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
| Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
| Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
| Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
| Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
probably benign |
Het |
|
| Other mutations in Pisd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Pisd
|
APN |
5 |
32,895,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00540:Pisd
|
APN |
5 |
32,895,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00577:Pisd
|
APN |
5 |
32,895,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00580:Pisd
|
APN |
5 |
32,895,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00590:Pisd
|
APN |
5 |
32,895,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00990:Pisd
|
APN |
5 |
32,896,702 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01899:Pisd
|
APN |
5 |
32,896,476 (GRCm39) |
splice site |
probably null |
|
|
IGL01908:Pisd
|
APN |
5 |
32,896,476 (GRCm39) |
splice site |
probably null |
|
|
IGL01928:Pisd
|
APN |
5 |
32,896,476 (GRCm39) |
splice site |
probably null |
|
|
IGL01931:Pisd
|
APN |
5 |
32,896,476 (GRCm39) |
splice site |
probably null |
|
|
IGL01935:Pisd
|
APN |
5 |
32,896,476 (GRCm39) |
splice site |
probably null |
|
|
IGL01948:Pisd
|
APN |
5 |
32,896,476 (GRCm39) |
splice site |
probably null |
|
|
IGL01952:Pisd
|
APN |
5 |
32,896,476 (GRCm39) |
splice site |
probably null |
|
|
IGL02195:Pisd
|
APN |
5 |
32,894,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
shandong
|
UTSW |
5 |
32,922,140 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0674:Pisd
|
UTSW |
5 |
32,931,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0840:Pisd
|
UTSW |
5 |
32,894,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Pisd
|
UTSW |
5 |
32,896,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Pisd
|
UTSW |
5 |
32,894,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Pisd
|
UTSW |
5 |
32,922,140 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5756:Pisd
|
UTSW |
5 |
32,895,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Pisd
|
UTSW |
5 |
32,896,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:Pisd
|
UTSW |
5 |
32,922,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Pisd
|
UTSW |
5 |
32,894,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Pisd
|
UTSW |
5 |
32,895,846 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7571:Pisd
|
UTSW |
5 |
32,894,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Pisd
|
UTSW |
5 |
32,898,032 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8903:Pisd
|
UTSW |
5 |
32,895,755 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9310:Pisd
|
UTSW |
5 |
32,894,784 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCTGTGTGGAAAGATCC -3'
(R):5'- GTCAAAGTCACAGCTGATACTG -3'
Sequencing Primer
(F):5'- TGGAAAGATCCTTTGGCAGCC -3'
(R):5'- TCACAGCTGATACTGGGAGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation