Incidental Mutation 'RF006:Plscr1l1'
ID 602833
Institutional Source Beutler Lab
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 # RF006 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 92191430-92239929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92234702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 146 (I146F)
Ref Sequence ENSEMBL: ENSMUSP00000096077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098477] [ENSMUST00000185580]
AlphaFold Q3V0U0
Predicted Effect possibly damaging
Transcript: ENSMUST00000098477
AA Change: I146F

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: I146F

DomainStartEndE-ValueType
Pfam:Scramblase 1 222 6.3e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135182
AA Change: I59F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000185580
AA Change: I70F

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139734
Gene: ENSMUSG00000074139
AA Change: I70F

DomainStartEndE-ValueType
Pfam:Scramblase 1 146 8.4e-57 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd7 GTT GT 2: 3,341,736 (GRCm39) probably null Het
Acp7 A T 7: 28,314,204 (GRCm39) N330K possibly damaging Het
Adam25 A T 8: 41,208,834 (GRCm39) H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,686,717 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,362,070 (GRCm39) V689E probably benign Het
Atxn2l A G 7: 126,095,063 (GRCm39) V533A probably benign Het
Catsperb G A 12: 101,542,238 (GRCm39) probably null Het
Ccdc121 C T 5: 31,644,894 (GRCm39) Q216* probably null Het
Ccdc13 T C 9: 121,643,273 (GRCm39) K376R probably damaging Het
Ccdc170 C CCAA 10: 4,511,030 (GRCm39) probably benign Het
Cdh9 G C 15: 16,855,916 (GRCm39) R652P probably damaging Het
Cenpf A C 1: 189,389,583 (GRCm39) C1416W probably damaging Het
Chga GCA GCATCA 12: 102,527,671 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Dennd3 T C 15: 73,419,441 (GRCm39) I744T probably damaging Het
Dnah1 C T 14: 31,029,832 (GRCm39) R491Q probably benign Het
Eif4a2 A T 16: 22,929,028 (GRCm39) M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,006,294 (GRCm39) probably benign Het
Fat3 T C 9: 15,909,913 (GRCm39) I2030V probably benign Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Gins4 A T 8: 23,717,183 (GRCm39) V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,272,892 (GRCm39) probably benign Het
Gm17604 CTCTCTTTC CTC X: 163,786,814 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,128 (GRCm39) probably benign Het
Gnpnat1 T A 14: 45,620,900 (GRCm39) probably null Het
Inpp4a A C 1: 37,427,908 (GRCm39) N651T possibly damaging Het
Ireb2 T C 9: 54,788,768 (GRCm39) F81L possibly damaging Het
Kcnh3 T A 15: 99,137,809 (GRCm39) probably null Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,285,802 (GRCm39) probably benign Het
Kmt2c TG TGCTGTGG 5: 25,520,770 (GRCm39) probably benign Het
Myt1 T C 2: 181,439,566 (GRCm39) S405P probably damaging Het
Net1 T C 13: 3,937,406 (GRCm39) T245A probably benign Het
Nkx2-1 T C 12: 56,580,332 (GRCm39) T203A probably damaging Het
Oas3 T C 5: 120,912,165 (GRCm39) E75G probably damaging Het
Pappa T A 4: 65,242,110 (GRCm39) D1491E probably benign Het
Pkhd1l1 C A 15: 44,366,634 (GRCm39) T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,421,903 (GRCm39) probably benign Het
Ppp1r8 TCTCTCAC TC 4: 132,557,928 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,600 (GRCm39) I157F probably benign Het
Pramel34 A T 5: 93,784,562 (GRCm39) C301S probably benign Het
Rspo4 C T 2: 151,709,797 (GRCm39) probably null Het
Rtn4 T C 11: 29,656,919 (GRCm39) S358P possibly damaging Het
Siglecg T A 7: 43,058,288 (GRCm39) Y58* probably null Het
Slc4a1 C T 11: 102,247,542 (GRCm39) probably null Het
Slc9b1 CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG 3: 135,063,303 (GRCm39) probably benign Het
Smc2 T A 4: 52,442,276 (GRCm39) D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 (GRCm39) probably benign Het
Srrm2 A G 17: 24,031,562 (GRCm39) S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,984,700 (GRCm39) probably null Het
Tfeb CAG CAGGAG 17: 48,097,038 (GRCm39) probably benign Het
Tktl2 A T 8: 66,965,504 (GRCm39) E354V probably benign Het
Tpte A G 8: 22,796,959 (GRCm39) T94A probably benign Het
Usp40 A C 1: 87,894,917 (GRCm39) S868A possibly damaging Het
Vmn2r24 G A 6: 123,783,378 (GRCm39) C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GCTGTCATTCTAAGTAAATGAAGCC -3'
(R):5'- AGCACTGACCTTGTATTGGATC -3'

Sequencing Primer
(F):5'- AATACAAGCTCCTCCTGG -3'
(R):5'- CCACCTAATACAGCTTTACC -3'
Posted On 2019-12-04