Incidental Mutation 'IGL03228:Plac8l1'
ID 413792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plac8l1
Ensembl Gene ENSMUSG00000059455
Gene Name PLAC8-like 1
Synonyms 1700015M15Rik, 1700009N18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL03228
Quality Score
Status
Chromosome 18
Chromosomal Location 42311748-42329774 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42325672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 78 (S78C)
Ref Sequence ENSEMBL: ENSMUSP00000080111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081374]
AlphaFold Q08EJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000081374
AA Change: S78C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080111
Gene: ENSMUSG00000059455
AA Change: S78C

DomainStartEndE-ValueType
Pfam:PLAC8 72 155 1.1e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid3a G A 10: 79,786,578 (GRCm39) V444I possibly damaging Het
Catsperg2 T C 7: 29,397,650 (GRCm39) Y1021C probably damaging Het
Cbx1 A G 11: 96,691,631 (GRCm39) probably benign Het
Cdk15 G T 1: 59,297,912 (GRCm39) K106N possibly damaging Het
Itpkb A T 1: 180,241,564 (GRCm39) R745W probably damaging Het
Kdr T A 5: 76,117,708 (GRCm39) I682F probably damaging Het
Klhl1 T A 14: 96,477,763 (GRCm39) E435V probably damaging Het
Lamp3 T A 16: 19,494,817 (GRCm39) Y296F possibly damaging Het
Ltb4r2 A T 14: 55,999,408 (GRCm39) N10Y probably damaging Het
Mmrn1 C T 6: 60,921,876 (GRCm39) P111L probably benign Het
Nt5c A G 11: 115,381,987 (GRCm39) Y107H probably damaging Het
Or2m12 A C 16: 19,105,140 (GRCm39) L118V probably damaging Het
Or5p53 T A 7: 107,533,330 (GRCm39) I201N possibly damaging Het
Or8h9 A G 2: 86,789,050 (GRCm39) F251L probably benign Het
Piezo2 T A 18: 63,186,133 (GRCm39) S1679C probably damaging Het
Scyl2 A T 10: 89,485,942 (GRCm39) I549N probably damaging Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Slc6a20b G T 9: 123,461,197 (GRCm39) Y65* probably null Het
Stx11 G A 10: 12,816,956 (GRCm39) T256M probably benign Het
Syne2 T C 12: 76,026,686 (GRCm39) C3505R probably benign Het
Trim75 A G 8: 65,436,006 (GRCm39) L148P probably benign Het
Ubr4 T A 4: 139,156,909 (GRCm39) N2311K probably damaging Het
Zfp553 A G 7: 126,835,249 (GRCm39) H268R probably damaging Het
Other mutations in Plac8l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02169:Plac8l1 APN 18 42,312,008 (GRCm39) missense probably damaging 1.00
R1530:Plac8l1 UTSW 18 42,311,996 (GRCm39) missense probably damaging 1.00
R3766:Plac8l1 UTSW 18 42,313,460 (GRCm39) missense probably benign 0.44
R4793:Plac8l1 UTSW 18 42,311,973 (GRCm39) missense possibly damaging 0.93
R8171:Plac8l1 UTSW 18 42,313,445 (GRCm39) missense probably damaging 1.00
R9224:Plac8l1 UTSW 18 42,325,702 (GRCm39) missense possibly damaging 0.82
Posted On 2016-08-02