Incidental Mutation 'IGL02506:Plscr4'
ID 296314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plscr4
Ensembl Gene ENSMUSG00000032377
Gene Name phospholipid scramblase 4
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02506
Quality Score
Status
Chromosome 9
Chromosomal Location 92339431-92374509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92372044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 272 (I272L)
Ref Sequence ENSEMBL: ENSMUSP00000034941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034941]
AlphaFold P58196
Predicted Effect possibly damaging
Transcript: ENSMUST00000034941
AA Change: I272L

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034941
Gene: ENSMUSG00000032377
AA Change: I272L

DomainStartEndE-ValueType
low complexity region 38 51 N/A INTRINSIC
Pfam:Scramblase 96 318 7.5e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143866
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,916 (GRCm39) E189G possibly damaging Het
Acad11 T C 9: 103,968,931 (GRCm39) probably null Het
Adcy7 G T 8: 89,044,571 (GRCm39) R488L probably damaging Het
Akt1 C T 12: 112,625,714 (GRCm39) probably benign Het
Ano9 C T 7: 140,682,167 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,953,820 (GRCm39) D182G possibly damaging Het
Asxl3 T A 18: 22,585,456 (GRCm39) V127D probably benign Het
Cacna1g A G 11: 94,319,955 (GRCm39) M1407T probably damaging Het
Card9 A C 2: 26,244,427 (GRCm39) probably benign Het
Cdh5 A G 8: 104,864,454 (GRCm39) N472D probably damaging Het
Ceacam2 T A 7: 25,227,379 (GRCm39) T343S probably benign Het
Cic T A 7: 24,990,282 (GRCm39) C1928S probably benign Het
Clk3 C T 9: 57,661,927 (GRCm39) W31* probably null Het
Cntn4 A G 6: 106,595,349 (GRCm39) T489A probably benign Het
Crispld1 G A 1: 17,826,529 (GRCm39) R431H probably damaging Het
Crmp1 T A 5: 37,436,199 (GRCm39) probably benign Het
Cyld A G 8: 89,456,218 (GRCm39) T423A possibly damaging Het
Cyp3a44 A T 5: 145,736,198 (GRCm39) I84N probably damaging Het
D2hgdh A G 1: 93,757,507 (GRCm39) N141D probably damaging Het
Dip2b T A 15: 100,055,162 (GRCm39) L341Q probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fam227b T A 2: 125,845,831 (GRCm39) Y386F probably benign Het
Fmn1 A T 2: 113,355,640 (GRCm39) T694S unknown Het
Gcnt2 T A 13: 41,040,856 (GRCm39) V5E probably benign Het
Herpud1 G T 8: 95,121,270 (GRCm39) E355* probably null Het
Igf1r T C 7: 67,843,144 (GRCm39) S752P probably benign Het
Iqsec1 T C 6: 90,649,057 (GRCm39) I687V possibly damaging Het
Kdm5a T C 6: 120,409,110 (GRCm39) S1598P probably damaging Het
Klk1b9 A G 7: 43,445,063 (GRCm39) E185G probably benign Het
Myo16 G T 8: 10,440,217 (GRCm39) R423L probably damaging Het
Myo7b T C 18: 32,100,207 (GRCm39) E1609G probably damaging Het
Nom1 T A 5: 29,644,814 (GRCm39) probably benign Het
Nomo1 A G 7: 45,727,480 (GRCm39) I1040V possibly damaging Het
Or8b39 G A 9: 37,996,741 (GRCm39) G203D probably damaging Het
Paqr9 T C 9: 95,442,748 (GRCm39) V246A probably benign Het
Pfkfb4 A T 9: 108,859,404 (GRCm39) D437V probably benign Het
Phldb1 G T 9: 44,622,223 (GRCm39) D797E probably benign Het
Pkd1l3 A G 8: 110,374,132 (GRCm39) E1399G probably damaging Het
Plekhs1 G A 19: 56,460,198 (GRCm39) C97Y probably damaging Het
Prlhr A C 19: 60,456,366 (GRCm39) Y67D probably damaging Het
Rab3gap2 A G 1: 184,984,221 (GRCm39) probably benign Het
Rad23b T C 4: 55,382,511 (GRCm39) V238A probably benign Het
Sel1l2 T C 2: 140,117,380 (GRCm39) T164A possibly damaging Het
Serpinh1 T A 7: 98,996,199 (GRCm39) K295M probably damaging Het
Slc45a4 T C 15: 73,453,687 (GRCm39) E770G probably benign Het
Spag4 T C 2: 155,911,142 (GRCm39) L390P probably damaging Het
Stip1 A G 19: 7,012,857 (GRCm39) probably benign Het
Tacr1 A G 6: 82,380,739 (GRCm39) N50S probably damaging Het
Tg T C 15: 66,613,443 (GRCm39) V433A possibly damaging Het
Ubap1l T A 9: 65,276,493 (GRCm39) probably benign Het
Usp40 A T 1: 87,909,738 (GRCm39) I572K probably damaging Het
Vps13b G T 15: 35,917,308 (GRCm39) E3717D probably damaging Het
Wdr81 T C 11: 75,335,232 (GRCm39) N1778S probably benign Het
Ylpm1 T A 12: 85,095,965 (GRCm39) F1162Y probably damaging Het
Zbtb10 T A 3: 9,330,297 (GRCm39) F552I probably damaging Het
Zfp507 T C 7: 35,475,891 (GRCm39) I811V probably damaging Het
Zfp663 A T 2: 165,195,871 (GRCm39) V116D probably benign Het
Other mutations in Plscr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Plscr4 APN 9 92,366,998 (GRCm39) missense probably null 1.00
BB009:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
BB019:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R0331:Plscr4 UTSW 9 92,364,695 (GRCm39) missense probably damaging 1.00
R0360:Plscr4 UTSW 9 92,370,814 (GRCm39) splice site probably benign
R0838:Plscr4 UTSW 9 92,353,813 (GRCm39) splice site probably benign
R0898:Plscr4 UTSW 9 92,366,806 (GRCm39) missense probably damaging 0.98
R1845:Plscr4 UTSW 9 92,372,099 (GRCm39) missense probably damaging 1.00
R1895:Plscr4 UTSW 9 92,365,889 (GRCm39) missense probably damaging 0.99
R1946:Plscr4 UTSW 9 92,365,889 (GRCm39) missense probably damaging 0.99
R2127:Plscr4 UTSW 9 92,370,683 (GRCm39) missense possibly damaging 0.82
R3427:Plscr4 UTSW 9 92,370,797 (GRCm39) missense probably damaging 0.99
R4670:Plscr4 UTSW 9 92,364,920 (GRCm39) critical splice donor site probably null
R4764:Plscr4 UTSW 9 92,366,833 (GRCm39) missense probably damaging 0.99
R4958:Plscr4 UTSW 9 92,366,814 (GRCm39) missense possibly damaging 0.95
R5126:Plscr4 UTSW 9 92,370,794 (GRCm39) missense probably damaging 1.00
R5424:Plscr4 UTSW 9 92,372,075 (GRCm39) missense possibly damaging 0.67
R6250:Plscr4 UTSW 9 92,366,881 (GRCm39) missense possibly damaging 0.79
R6476:Plscr4 UTSW 9 92,372,819 (GRCm39) missense probably benign 0.01
R6775:Plscr4 UTSW 9 92,364,858 (GRCm39) missense probably benign
R6810:Plscr4 UTSW 9 92,365,889 (GRCm39) missense probably damaging 0.99
R6982:Plscr4 UTSW 9 92,364,796 (GRCm39) missense probably benign 0.00
R7127:Plscr4 UTSW 9 92,372,831 (GRCm39) nonsense probably null
R7190:Plscr4 UTSW 9 92,370,694 (GRCm39) missense probably benign 0.11
R7741:Plscr4 UTSW 9 92,364,693 (GRCm39) critical splice acceptor site probably null
R7818:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R7819:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R7837:Plscr4 UTSW 9 92,366,976 (GRCm39) missense probably damaging 1.00
R7932:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R7938:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R7940:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8004:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8005:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8008:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8346:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8348:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8423:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8426:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8427:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8507:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8509:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R8510:Plscr4 UTSW 9 92,372,843 (GRCm39) nonsense probably null
R9070:Plscr4 UTSW 9 92,372,281 (GRCm39) intron probably benign
R9240:Plscr4 UTSW 9 92,366,934 (GRCm39) missense probably benign 0.03
R9628:Plscr4 UTSW 9 92,354,985 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16