Incidental Mutation 'R3689:Plscr1l1'
ID 269677
Institutional Source Beutler Lab
Gene Symbol Plscr1l1
Ensembl Gene ENSMUSG00000074139
Gene Name phospholipid scramblase 1 like 1
Synonyms 1700057G04Rik
MMRRC Submission 040684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R3689 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 92191430-92239929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 92234673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 60 (N60T)
Ref Sequence ENSEMBL: ENSMUSP00000139734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098477] [ENSMUST00000185580]
AlphaFold Q3V0U0
Predicted Effect probably damaging
Transcript: ENSMUST00000098477
AA Change: N136T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: N136T

DomainStartEndE-ValueType
Pfam:Scramblase 1 222 6.3e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134712
Predicted Effect unknown
Transcript: ENSMUST00000135182
AA Change: N49T
Predicted Effect probably damaging
Transcript: ENSMUST00000185580
AA Change: N60T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139734
Gene: ENSMUSG00000074139
AA Change: N60T

DomainStartEndE-ValueType
Pfam:Scramblase 1 146 8.4e-57 PFAM
Meta Mutation Damage Score 0.1718 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A T 13: 68,779,088 (GRCm39) L984Q probably damaging Het
Atg16l1 T C 1: 87,713,626 (GRCm39) V427A probably damaging Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Blm G C 7: 80,162,827 (GRCm39) P175A possibly damaging Het
Bpifb1 A G 2: 154,051,819 (GRCm39) D208G probably benign Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cep162 G A 9: 87,107,747 (GRCm39) Q548* probably null Het
Chchd10 T C 10: 75,771,835 (GRCm39) probably benign Het
Cog3 T C 14: 75,991,878 (GRCm39) M1V probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Erich2 T C 2: 70,371,097 (GRCm39) V419A unknown Het
Fam53c A G 18: 34,903,886 (GRCm39) D386G probably damaging Het
Fgd2 A G 17: 29,597,924 (GRCm39) T620A probably benign Het
G930045G22Rik A T 6: 50,823,535 (GRCm39) noncoding transcript Het
Grpel1 G A 5: 36,626,769 (GRCm39) probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Mtss1 A G 15: 58,825,385 (GRCm39) S272P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
N4bp1 C T 8: 87,587,184 (GRCm39) D585N probably damaging Het
Napb T C 2: 148,544,977 (GRCm39) probably null Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Niban1 A G 1: 151,579,447 (GRCm39) probably null Het
Nms T C 1: 38,986,075 (GRCm39) probably benign Het
Nsun2 A G 13: 69,760,456 (GRCm39) N45D probably damaging Het
Or4c116 T A 2: 88,942,386 (GRCm39) I157L possibly damaging Het
Pak6 C T 2: 118,523,921 (GRCm39) Q359* probably null Het
Pcdhb12 C T 18: 37,569,127 (GRCm39) A91V probably benign Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Sec31a T A 5: 100,530,766 (GRCm39) D239V probably damaging Het
Slc13a4 T C 6: 35,245,845 (GRCm39) N600S possibly damaging Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Sprr2j-ps A G 3: 92,326,290 (GRCm39) H55R probably benign Het
Srsf9 A G 5: 115,465,387 (GRCm39) D7G probably benign Het
Stt3a T C 9: 36,670,618 (GRCm39) Y51C probably damaging Het
Taf5 A G 19: 47,067,224 (GRCm39) K519E probably damaging Het
Taf7l A T X: 133,365,074 (GRCm39) I449K probably damaging Het
Tnk1 C A 11: 69,746,425 (GRCm39) D263Y probably damaging Het
Ttc21b T A 2: 66,054,488 (GRCm39) I714F probably benign Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Txn1 T C 4: 57,950,846 (GRCm39) D61G probably benign Het
Ugcg T C 4: 59,211,883 (GRCm39) V83A probably benign Het
Ulk3 T C 9: 57,501,077 (GRCm39) V348A probably benign Het
Wdr93 A G 7: 79,421,333 (GRCm39) T409A possibly damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zc3h12c C T 9: 52,027,256 (GRCm39) R721H probably benign Het
Zfp169 A G 13: 48,660,377 (GRCm39) probably benign Het
Other mutations in Plscr1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Plscr1l1 APN 9 92,233,005 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGTTATAGATTGGAGCACTGGC -3'
(R):5'- GTAAGCACTGACCTTGTATTGG -3'

Sequencing Primer
(F):5'- GGCTGTCATTCTAAGTAAATGAAGCC -3'
(R):5'- CTCCACCTAATACAGCTTTAC -3'
Posted On 2015-02-19