Incidental Mutation 'IGL01592:Plscr1'
| ID |
91609 |
| 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 # |
IGL01592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
92132265-92154034 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 92148803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 214
(Y214*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093801]
[ENSMUST00000186364]
|
| AlphaFold |
Q9JJ00 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093801
AA Change: Y214*
|
| SMART Domains |
Protein: ENSMUSP00000091318
Gene: ENSMUSG00000032369
AA Change: Y214*
| 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 null
Transcript: ENSMUST00000186364
AA Change: Y214*
|
| SMART Domains |
Protein: ENSMUSP00000139479
Gene: ENSMUSG00000032369
AA Change: Y214*
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
G |
12: 53,188,925 (GRCm39) |
D2113G |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,868,111 (GRCm39) |
V125E |
probably damaging |
Het |
| Cdan1 |
T |
A |
2: 120,556,466 (GRCm39) |
Y653F |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,921,717 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,321,913 (GRCm39) |
N3802K |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,236,783 (GRCm39) |
I370V |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,262,099 (GRCm39) |
E761G |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,825 (GRCm39) |
E33G |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,582,267 (GRCm39) |
D25E |
possibly damaging |
Het |
| E2f8 |
T |
C |
7: 48,517,605 (GRCm39) |
T733A |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,953,294 (GRCm39) |
E32G |
probably damaging |
Het |
| Grip1 |
T |
A |
10: 119,765,908 (GRCm39) |
V80E |
probably damaging |
Het |
| Igsf6 |
T |
C |
7: 120,670,016 (GRCm39) |
Y42C |
probably damaging |
Het |
| Katna1 |
T |
G |
10: 7,617,218 (GRCm39) |
M70R |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,309,052 (GRCm39) |
K102R |
probably benign |
Het |
| Lypla1 |
T |
A |
1: 4,898,874 (GRCm39) |
|
probably null |
Het |
| Or2z9 |
T |
A |
8: 72,854,356 (GRCm39) |
F251I |
probably damaging |
Het |
| Or6c69b |
A |
G |
10: 129,627,188 (GRCm39) |
I90T |
probably damaging |
Het |
| Pgap1 |
G |
A |
1: 54,560,470 (GRCm39) |
P444L |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,776,795 (GRCm39) |
V657M |
probably damaging |
Het |
| Polq |
A |
C |
16: 36,855,212 (GRCm39) |
I436L |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,671,909 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,381 (GRCm39) |
S84P |
probably damaging |
Het |
| Slc30a6 |
T |
A |
17: 74,726,523 (GRCm39) |
|
probably benign |
Het |
| Trim38 |
A |
G |
13: 23,975,410 (GRCm39) |
T450A |
possibly damaging |
Het |
| Ubqlnl |
A |
T |
7: 103,799,496 (GRCm39) |
|
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,764,445 (GRCm39) |
K441E |
probably benign |
Het |
| Wnt8a |
A |
G |
18: 34,677,846 (GRCm39) |
T85A |
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 |
|
IGL03139:Plscr1
|
APN |
9 |
92,148,438 (GRCm39) |
splice site |
probably benign |
|
|
IGL03291:Plscr1
|
APN |
9 |
92,148,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation