Incidental Mutation 'R4987:Plscr1l1'
ID 385915
Institutional Source Beutler Lab
Gene Symbol Plscr1l1
Ensembl Gene ENSMUSG00000074139
Gene Name phospholipid scramblase 1 like 1
Synonyms 1700057G04Rik
MMRRC Submission 042581-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4987 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 92191430-92239929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92236637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 175 (S175P)
Ref Sequence ENSEMBL: ENSMUSP00000096077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098477] [ENSMUST00000185580]
AlphaFold Q3V0U0
Predicted Effect probably damaging
Transcript: ENSMUST00000098477
AA Change: S175P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: S175P

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 damaging
Transcript: ENSMUST00000185580
AA Change: S99P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139734
Gene: ENSMUSG00000074139
AA Change: S99P

DomainStartEndE-ValueType
Pfam:Scramblase 1 146 8.4e-57 PFAM
Meta Mutation Damage Score 0.2241 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.3%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,030,725 (GRCm39) S249P probably benign Het
Adcy4 A G 14: 56,010,934 (GRCm39) V661A probably benign Het
Ahdc1 T G 4: 132,791,631 (GRCm39) H957Q possibly damaging Het
Atp10b A G 11: 43,042,440 (GRCm39) probably benign Het
B3gnt5 A T 16: 19,587,952 (GRCm39) N57I probably damaging Het
Brms1l T A 12: 55,912,800 (GRCm39) D264E probably benign Het
Camk1g T A 1: 193,030,783 (GRCm39) N309Y probably damaging Het
Chl1 A G 6: 103,651,938 (GRCm39) T285A probably damaging Het
Cspg4b T C 13: 113,454,635 (GRCm39) V227A probably benign Het
Dennd1c G T 17: 57,380,852 (GRCm39) T200K probably damaging Het
Dpysl3 C A 18: 43,461,492 (GRCm39) M566I probably benign Het
Dscam A T 16: 96,498,721 (GRCm39) D985E probably benign Het
Fmo5 T C 3: 97,542,894 (GRCm39) M68T probably benign Het
Gm26996 A G 6: 130,567,959 (GRCm39) unknown Het
Gm9991 A T 1: 90,603,138 (GRCm39) noncoding transcript Het
Gzmc T A 14: 56,468,997 (GRCm39) I241L probably damaging Het
Hibadh A T 6: 52,599,880 (GRCm39) S105R probably damaging Het
Krt87 A G 15: 101,384,890 (GRCm39) I402T probably benign Het
Krtap31-2 A G 11: 99,827,396 (GRCm39) D76G possibly damaging Het
Lin9 A G 1: 180,496,329 (GRCm39) S249G probably damaging Het
Lpcat1 T A 13: 73,637,222 (GRCm39) probably null Het
Mfap4 A G 11: 61,376,908 (GRCm39) I46V probably benign Het
Nos1 T C 5: 118,064,598 (GRCm39) probably null Het
Nostrin A G 2: 68,986,775 (GRCm39) M107V probably benign Het
Nutm2 C T 13: 50,626,379 (GRCm39) T322I possibly damaging Het
Or8k33 A C 2: 86,383,579 (GRCm39) D296E probably null Het
Pcdha12 T A 18: 37,154,604 (GRCm39) V441E probably damaging Het
Plcd4 A G 1: 74,587,118 (GRCm39) probably benign Het
Ppme1 T C 7: 99,994,278 (GRCm39) D145G probably benign Het
Rbm25 T C 12: 83,724,630 (GRCm39) V793A probably damaging Het
Rlbp1 A T 7: 79,029,879 (GRCm39) V118E probably damaging Het
Serinc2 C T 4: 130,156,820 (GRCm39) probably null Het
Slc25a32 A G 15: 38,963,414 (GRCm39) C136R possibly damaging Het
Smco2 A G 6: 146,757,590 (GRCm39) D48G possibly damaging Het
Trpv4 T C 5: 114,760,793 (GRCm39) D846G probably benign Het
Ubr1 A T 2: 120,794,047 (GRCm39) L46I probably benign Het
Wdsub1 A G 2: 59,700,737 (GRCm39) probably benign Het
Zp3 T A 5: 136,016,359 (GRCm39) C320* probably null 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
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
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'- ACACTGGGGAAACACTGAAATTTTC -3'
(R):5'- AGATGTTTCTGGAGACTACATCC -3'

Sequencing Primer
(F):5'- GCAGCAACCTTTCAAATGTTTAGTC -3'
(R):5'- GTTTCTGGAGACTACATCCAAAATCC -3'
Posted On 2016-05-10