Incidental Mutation 'IGL01575:Pam16l'
ID 91206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pam16l
Ensembl Gene ENSMUSG00000045886
Gene Name presequence translocase associated motor 16 like
Synonyms Gm9803
Accession Numbers
Essential gene? Not available question?
Stock # IGL01575
Quality Score
Status
Chromosome 10
Chromosomal Location 43400080-43400613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43400411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 55 (V55A)
Ref Sequence ENSEMBL: ENSMUSP00000148958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057649] [ENSMUST00000147196] [ENSMUST00000216543]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057649
AA Change: V83A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000137140
Gene: ENSMUSG00000045886
AA Change: V83A

DomainStartEndE-ValueType
Pfam:Pam16 1 125 4.9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147196
SMART Domains Protein: ENSMUSP00000119053
Gene: ENSMUSG00000019797

DomainStartEndE-ValueType
low complexity region 84 96 N/A INTRINSIC
low complexity region 100 125 N/A INTRINSIC
Blast:S4 142 188 1e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152926
Predicted Effect probably benign
Transcript: ENSMUST00000216543
AA Change: V55A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216546
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 C T 2: 25,175,188 (GRCm39) probably benign Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Boll A G 1: 55,362,807 (GRCm39) probably null Het
Cngb1 G A 8: 95,991,148 (GRCm39) P226S possibly damaging Het
Commd3 G A 2: 18,679,528 (GRCm39) probably null Het
Ddx46 C T 13: 55,801,996 (GRCm39) probably benign Het
Dmrtb1 A G 4: 107,541,265 (GRCm39) I32T probably benign Het
Dnah7a T C 1: 53,466,979 (GRCm39) probably benign Het
Dppa5a A G 9: 78,275,062 (GRCm39) I80T possibly damaging Het
Galntl6 T C 8: 58,880,710 (GRCm39) probably benign Het
Hmgcr A G 13: 96,793,103 (GRCm39) Y510H possibly damaging Het
Idua G T 5: 108,829,973 (GRCm39) R505L possibly damaging Het
Ifna15 A G 4: 88,476,044 (GRCm39) F147L probably damaging Het
Itga4 T C 2: 79,118,599 (GRCm39) S433P probably damaging Het
Kcnc1 T C 7: 46,077,523 (GRCm39) Y442H possibly damaging Het
Kmt2d A G 15: 98,744,736 (GRCm39) probably benign Het
Mpp7 A G 18: 7,403,365 (GRCm39) probably benign Het
Or14c39 T C 7: 86,344,501 (GRCm39) V279A probably benign Het
Or5p64 A C 7: 107,854,742 (GRCm39) V201G possibly damaging Het
Or6c75 A G 10: 129,337,436 (GRCm39) I228V probably benign Het
Phf14 T C 6: 11,990,050 (GRCm39) L693S probably damaging Het
Pkd1 A G 17: 24,792,102 (GRCm39) N1263S probably damaging Het
Rhbdl1 G T 17: 26,055,112 (GRCm39) A32E possibly damaging Het
Samd9l A G 6: 3,376,734 (GRCm39) S176P possibly damaging Het
Scn1a G T 2: 66,103,580 (GRCm39) F1893L probably damaging Het
Serpina3f C A 12: 104,184,699 (GRCm39) P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 (GRCm39) Q294K probably benign Het
Sspo G A 6: 48,435,976 (GRCm39) S1154N probably benign Het
Tdrd6 A G 17: 43,938,871 (GRCm39) S726P probably benign Het
Tiam2 A T 17: 3,504,591 (GRCm39) E24V probably damaging Het
Tmf1 T C 6: 97,152,897 (GRCm39) E392G probably damaging Het
Tns2 T C 15: 102,021,626 (GRCm39) V1089A probably damaging Het
Tspyl1 C A 10: 34,159,086 (GRCm39) N270K probably damaging Het
Usp32 A T 11: 84,913,628 (GRCm39) V901D probably damaging Het
Vldlr A G 19: 27,224,031 (GRCm39) I764V probably benign Het
Wnk2 A G 13: 49,300,152 (GRCm39) V186A probably damaging Het
Zdhhc18 A G 4: 133,341,210 (GRCm39) V221A probably damaging Het
Other mutations in Pam16l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6030:Pam16l UTSW 10 43,400,252 (GRCm39) missense probably benign 0.44
R6030:Pam16l UTSW 10 43,400,252 (GRCm39) missense probably benign 0.44
R8384:Pam16l UTSW 10 43,400,347 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09