Incidental Mutation 'IGL03291:Plscr1'
| ID |
415895 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plscr1
|
| Ensembl Gene |
ENSMUSG00000032369 |
| Gene Name |
phospholipid scramblase 1 |
| Synonyms |
Tras1, TRA1, NOR1, MmTRA1a, MmTRA1b, Tras2, MuPLSCR2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
92132265-92154034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92148923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 254
(F254L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093801]
[ENSMUST00000186364]
|
| AlphaFold |
Q9JJ00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093801
AA Change: F254L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091318
Gene: ENSMUSG00000032369
AA Change: F254L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
72 |
N/A |
INTRINSIC |
|
Pfam:Scramblase
|
95 |
316 |
2.4e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183558
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186364
AA Change: F254L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139479
Gene: ENSMUSG00000032369
AA Change: F254L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
72 |
N/A |
INTRINSIC |
|
Pfam:Scramblase
|
95 |
316 |
2.4e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187952
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display a grossly normal phenotype although there are hematopoietic abnormalities in newborn mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
A |
7: 144,175,412 (GRCm39) |
E502V |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,610,081 (GRCm39) |
V364A |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,227,674 (GRCm39) |
H125L |
possibly damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,950,695 (GRCm39) |
E227V |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,909,662 (GRCm39) |
I378V |
probably benign |
Het |
| Eya1 |
C |
T |
1: 14,254,572 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,153,421 (GRCm39) |
R3597H |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,109,328 (GRCm39) |
|
probably benign |
Het |
| Glcci1 |
T |
A |
6: 8,579,678 (GRCm39) |
I293K |
probably damaging |
Het |
| Gm16503 |
T |
A |
4: 147,625,535 (GRCm39) |
Y10N |
unknown |
Het |
| Gm5930 |
A |
T |
14: 44,568,905 (GRCm39) |
I239N |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,780,004 (GRCm39) |
L1148P |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,704,289 (GRCm39) |
L1161I |
probably damaging |
Het |
| Megf9 |
C |
T |
4: 70,406,387 (GRCm39) |
V260I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,253,525 (GRCm39) |
D456E |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,221,950 (GRCm39) |
E61V |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,436 (GRCm39) |
D167G |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,119 (GRCm39) |
M145K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,154,379 (GRCm39) |
K2467E |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,379 (GRCm39) |
K256N |
unknown |
Het |
| Rapgef4 |
A |
T |
2: 72,026,047 (GRCm39) |
L339F |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,406,670 (GRCm39) |
I118T |
probably benign |
Het |
| Smim7 |
A |
T |
8: 73,323,838 (GRCm39) |
F19L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,150 (GRCm39) |
L428* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,962,133 (GRCm39) |
T699A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,688,092 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,111 (GRCm39) |
D230G |
probably benign |
Het |
| Tyw1 |
A |
G |
5: 130,328,834 (GRCm39) |
D540G |
probably damaging |
Het |
| Zfp763 |
A |
G |
17: 33,238,860 (GRCm39) |
V95A |
probably damaging |
Het |
|
| Other mutations in Plscr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Plscr1
|
APN |
9 |
92,146,732 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01592:Plscr1
|
APN |
9 |
92,148,803 (GRCm39) |
nonsense |
probably null |
|
|
IGL03139:Plscr1
|
APN |
9 |
92,148,438 (GRCm39) |
splice site |
probably benign |
|
|
PIT4791001:Plscr1
|
UTSW |
9 |
92,145,150 (GRCm39) |
nonsense |
probably null |
|
|
R0543:Plscr1
|
UTSW |
9 |
92,140,099 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1344:Plscr1
|
UTSW |
9 |
92,141,357 (GRCm39) |
missense |
unknown |
|
|
R1618:Plscr1
|
UTSW |
9 |
92,148,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Plscr1
|
UTSW |
9 |
92,140,127 (GRCm39) |
missense |
unknown |
|
|
R4726:Plscr1
|
UTSW |
9 |
92,145,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5231:Plscr1
|
UTSW |
9 |
92,148,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5632:Plscr1
|
UTSW |
9 |
92,148,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6245:Plscr1
|
UTSW |
9 |
92,141,374 (GRCm39) |
missense |
unknown |
|
|
R6928:Plscr1
|
UTSW |
9 |
92,152,004 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7018:Plscr1
|
UTSW |
9 |
92,146,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Plscr1
|
UTSW |
9 |
92,153,588 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8269:Plscr1
|
UTSW |
9 |
92,145,095 (GRCm39) |
missense |
unknown |
|
|
R9658:Plscr1
|
UTSW |
9 |
92,148,535 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation