Incidental Mutation 'IGL00232:Plscr1l1'
ID 45404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plscr1l1
Ensembl Gene ENSMUSG00000074139
Gene Name phospholipid scramblase 1 like 1
Synonyms 1700057G04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00232
Quality Score
Status
Chromosome 9
Chromosomal Location 92191430-92239929 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 92233005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 43 (R43*)
Ref Sequence ENSEMBL: ENSMUSP00000096077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098477] [ENSMUST00000185580]
AlphaFold Q3V0U0
Predicted Effect probably null
Transcript: ENSMUST00000098477
AA Change: R43*
SMART Domains Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: R43*

DomainStartEndE-ValueType
Pfam:Scramblase 1 222 6.3e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134712
Predicted Effect probably benign
Transcript: ENSMUST00000135182
Predicted Effect probably benign
Transcript: ENSMUST00000185580
SMART Domains Protein: ENSMUSP00000139734
Gene: ENSMUSG00000074139

DomainStartEndE-ValueType
Pfam:Scramblase 1 146 8.4e-57 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 81,950,581 (GRCm39) Q1493K probably benign Het
Anapc1 A T 2: 128,487,050 (GRCm39) probably benign Het
Armc8 T C 9: 99,387,787 (GRCm39) probably null Het
Asz1 T G 6: 18,055,541 (GRCm39) probably null Het
Atp6v0a4 G A 6: 38,069,725 (GRCm39) R56* probably null Het
Bend6 T C 1: 33,922,619 (GRCm39) D8G possibly damaging Het
Ccdc171 T A 4: 83,600,561 (GRCm39) C870* probably null Het
Cd163 A G 6: 124,306,060 (GRCm39) probably benign Het
Chd2 A G 7: 73,118,325 (GRCm39) S1098P probably damaging Het
Col6a5 T G 9: 105,759,882 (GRCm39) D1946A probably damaging Het
Gm6576 T A 15: 27,025,884 (GRCm39) noncoding transcript Het
Gypa T G 8: 81,231,408 (GRCm39) probably benign Het
Ighv9-3 T C 12: 114,104,691 (GRCm39) probably benign Het
Itgb1 T G 8: 129,440,399 (GRCm39) probably benign Het
Kctd15 A T 7: 34,350,170 (GRCm39) probably null Het
Krtap13 A C 16: 88,548,423 (GRCm39) S22A possibly damaging Het
Masp1 C T 16: 23,276,841 (GRCm39) E555K possibly damaging Het
Med13l T A 5: 118,862,136 (GRCm39) S360T probably damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mfsd13a A G 19: 46,354,958 (GRCm39) Y45C probably damaging Het
Neb T C 2: 52,125,568 (GRCm39) D3662G possibly damaging Het
Nkx6-1 T C 5: 101,807,371 (GRCm39) D337G possibly damaging Het
Nlrc5 T C 8: 95,211,251 (GRCm39) probably null Het
Palb2 T C 7: 121,720,287 (GRCm39) H468R probably damaging Het
Rai1 T G 11: 60,076,217 (GRCm39) Y94D probably damaging Het
Slc27a3 A T 3: 90,292,748 (GRCm39) Y605* probably null Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Trpm7 T C 2: 126,670,951 (GRCm39) E677G possibly damaging Het
Tstd2 A T 4: 46,120,002 (GRCm39) probably benign Het
Unc5c T C 3: 141,494,701 (GRCm39) I412T probably damaging Het
Other mutations in Plscr1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Plscr1l1 APN 9 92,229,864 (GRCm39) missense probably damaging 0.99
IGL02118:Plscr1l1 APN 9 92,233,011 (GRCm39) nonsense probably null
R0815:Plscr1l1 UTSW 9 92,233,140 (GRCm39) missense possibly damaging 0.87
R0863:Plscr1l1 UTSW 9 92,233,140 (GRCm39) missense possibly damaging 0.87
R1400:Plscr1l1 UTSW 9 92,233,180 (GRCm39) missense probably benign 0.00
R3689:Plscr1l1 UTSW 9 92,234,673 (GRCm39) missense probably damaging 1.00
R4280:Plscr1l1 UTSW 9 92,225,701 (GRCm39) missense possibly damaging 0.92
R4789:Plscr1l1 UTSW 9 92,233,084 (GRCm39) missense probably damaging 0.98
R4810:Plscr1l1 UTSW 9 92,236,683 (GRCm39) missense probably damaging 1.00
R4880:Plscr1l1 UTSW 9 92,236,665 (GRCm39) missense probably damaging 1.00
R4987:Plscr1l1 UTSW 9 92,236,637 (GRCm39) missense probably damaging 1.00
R5427:Plscr1l1 UTSW 9 92,234,649 (GRCm39) missense probably benign 0.43
R5602:Plscr1l1 UTSW 9 92,234,721 (GRCm39) missense possibly damaging 0.88
R5702:Plscr1l1 UTSW 9 92,225,741 (GRCm39) splice site probably null
R6992:Plscr1l1 UTSW 9 92,236,725 (GRCm39) missense probably benign 0.06
R7243:Plscr1l1 UTSW 9 92,225,726 (GRCm39) missense probably damaging 1.00
R8207:Plscr1l1 UTSW 9 92,233,061 (GRCm39) missense probably benign 0.01
RF006:Plscr1l1 UTSW 9 92,234,702 (GRCm39) missense possibly damaging 0.69
Posted On 2013-06-11