Incidental Mutation 'IGL03291:Plscr1'
ID415895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plscr1
Ensembl Gene ENSMUSG00000032369
Gene Namephospholipid scramblase 1
SynonymsTRA1, Tras1, Tras2, MuPLSCR2, MmTRA1b, MmTRA1a, NOR1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03291
Quality Score
Status
Chromosome9
Chromosomal Location92249750-92272278 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92266870 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T A 7: 144,621,675 E502V probably damaging Het
Atic T C 1: 71,570,922 V364A probably benign Het
Cfap44 A T 16: 44,407,311 H125L possibly damaging Het
Ctnna2 T A 6: 76,973,712 E227V probably damaging Het
Ctsf A G 19: 4,859,634 I378V probably benign Het
Eya1 C T 1: 14,184,348 probably null Het
Fat2 C T 11: 55,262,595 R3597H probably benign Het
Gdpd5 T C 7: 99,460,121 probably benign Het
Glcci1 T A 6: 8,579,678 I293K probably damaging Het
Gm16503 T A 4: 147,541,078 Y10N unknown Het
Gm5930 A T 14: 44,331,448 I239N possibly damaging Het
Grm5 T C 7: 88,130,796 L1148P probably damaging Het
Kmt2e T A 5: 23,499,291 L1161I probably damaging Het
Megf9 C T 4: 70,488,150 V260I probably benign Het
Mme T A 3: 63,346,104 D456E probably benign Het
Mup8 T A 4: 60,221,950 E61V probably damaging Het
Olfml1 A G 7: 107,590,229 D167G probably damaging Het
Olfr615 T A 7: 103,560,912 M145K possibly damaging Het
Piezo2 T C 18: 63,021,308 K2467E probably damaging Het
Prol1 A T 5: 88,328,520 K256N unknown Het
Rapgef4 A T 2: 72,195,703 L339F probably damaging Het
Slc27a2 T C 2: 126,564,750 I118T probably benign Het
Smim7 A T 8: 72,569,994 F19L possibly damaging Het
Svil T A 18: 5,056,150 L428* probably null Het
Tcof1 T C 18: 60,829,061 T699A possibly damaging Het
Thsd7b T A 1: 129,760,355 S668T possibly damaging Het
Tmprss7 T C 16: 45,680,748 D230G probably benign Het
Tyw1 A G 5: 130,299,993 D540G probably damaging Het
Zfp763 A G 17: 33,019,886 V95A probably damaging Het
Other mutations in Plscr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Plscr1 APN 9 92264679 missense probably benign 0.15
IGL01592:Plscr1 APN 9 92266750 nonsense probably null
IGL03139:Plscr1 APN 9 92266385 splice site probably benign
PIT4791001:Plscr1 UTSW 9 92263097 nonsense probably null
R0543:Plscr1 UTSW 9 92258046 critical splice acceptor site probably null
R1344:Plscr1 UTSW 9 92259304 missense unknown
R1618:Plscr1 UTSW 9 92266495 missense probably damaging 0.99
R1840:Plscr1 UTSW 9 92258074 missense unknown
R4726:Plscr1 UTSW 9 92263168 missense probably damaging 0.99
R5231:Plscr1 UTSW 9 92266731 missense probably damaging 1.00
R5632:Plscr1 UTSW 9 92266424 missense probably damaging 0.99
R6245:Plscr1 UTSW 9 92259321 missense unknown
R6928:Plscr1 UTSW 9 92269951 missense possibly damaging 0.74
R7018:Plscr1 UTSW 9 92264662 missense probably damaging 1.00
R7042:Plscr1 UTSW 9 92271535 missense probably damaging 0.96
R8269:Plscr1 UTSW 9 92263042 missense unknown
Posted On2016-08-02