Incidental Mutation 'IGL02732:Pierce1'
ID 305501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pierce1
Ensembl Gene ENSMUSG00000026831
Gene Name piercer of microtubule wall 1
Synonyms 1700007K13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02732
Quality Score
Status
Chromosome 2
Chromosomal Location 28352013-28356336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28355192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 91 (N91S)
Ref Sequence ENSEMBL: ENSMUSP00000083557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038600] [ENSMUST00000086370] [ENSMUST00000127683]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000038600
SMART Domains Protein: ENSMUSP00000036725
Gene: ENSMUSG00000035772

DomainStartEndE-ValueType
Pfam:Ribosomal_S2 81 182 4.6e-23 PFAM
Pfam:Ribosomal_S2 180 257 7.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000086370
AA Change: N91S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083557
Gene: ENSMUSG00000026831
AA Change: N91S

DomainStartEndE-ValueType
Pfam:DUF4490 35 137 1.4e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126242
Predicted Effect possibly damaging
Transcript: ENSMUST00000127683
AA Change: N91S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831
AA Change: N91S

DomainStartEndE-ValueType
Pfam:DUF4490 33 122 1.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146332
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe laterality defects, including situs inversus totalis and heterotaxy with randomized situs and left and right isomerisms. Homozygous embryos with isomerisms die in utero due to associated cardiovascular malformations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoo-ps C A 13: 107,551,123 (GRCm39) noncoding transcript Het
Ash1l T A 3: 88,873,535 (GRCm39) V106E probably damaging Het
Baz2a A G 10: 127,961,044 (GRCm39) T1618A possibly damaging Het
Brca1 A G 11: 101,383,045 (GRCm39) S1732P probably benign Het
Cdh1 T A 8: 107,392,955 (GRCm39) I813N probably damaging Het
Cdk5rap2 G A 4: 70,184,902 (GRCm39) R1183* probably null Het
Cep170 C T 1: 176,564,440 (GRCm39) E1479K probably damaging Het
Cep68 A T 11: 20,186,109 (GRCm39) probably benign Het
Cog7 C T 7: 121,522,590 (GRCm39) V750I probably benign Het
Cplane1 A G 15: 8,209,375 (GRCm39) T271A probably benign Het
Cyb5d1 A C 11: 69,284,635 (GRCm39) probably null Het
Dlgap4 A G 2: 156,591,243 (GRCm39) K120E probably benign Het
Dmtf1 T C 5: 9,186,098 (GRCm39) I75V possibly damaging Het
Fnip2 T C 3: 79,373,004 (GRCm39) T995A probably damaging Het
Hecw2 G A 1: 53,965,847 (GRCm39) probably benign Het
Il17rd T A 14: 26,809,376 (GRCm39) F111I probably damaging Het
Itgb8 A C 12: 119,127,088 (GRCm39) M722R probably benign Het
Maip1 A G 1: 57,449,114 (GRCm39) D165G probably damaging Het
Mcm6 A T 1: 128,287,227 (GRCm39) C26S probably benign Het
Mdp1 T C 14: 55,896,678 (GRCm39) I128V possibly damaging Het
Myof A T 19: 37,966,164 (GRCm39) F385L possibly damaging Het
Nebl C T 2: 17,457,295 (GRCm39) probably benign Het
Nusap1 A G 2: 119,466,061 (GRCm39) E227G probably damaging Het
Or4b13 A G 2: 90,082,652 (GRCm39) S227P probably damaging Het
Or51m1 T G 7: 103,578,336 (GRCm39) M102R probably damaging Het
Or52e3 A C 7: 102,869,447 (GRCm39) N174T probably benign Het
Pamr1 A T 2: 102,472,486 (GRCm39) H595L probably benign Het
Pate5 C T 9: 35,750,345 (GRCm39) G109D probably damaging Het
Pdgfc G A 3: 80,944,864 (GRCm39) probably benign Het
Ptpn22 A T 3: 103,793,349 (GRCm39) E500V probably damaging Het
Ptprg G T 14: 12,225,617 (GRCm38) probably null Het
R3hdm2 T C 10: 127,319,929 (GRCm39) F513L probably benign Het
Ramac T C 7: 81,417,473 (GRCm39) probably null Het
Rhobtb3 C A 13: 76,059,056 (GRCm39) L247F probably damaging Het
Scfd1 T C 12: 51,469,756 (GRCm39) S434P probably benign Het
Serpinb3d T A 1: 107,010,526 (GRCm39) probably null Het
Sin3b T C 8: 73,460,081 (GRCm39) F223L possibly damaging Het
Slc9c1 T C 16: 45,370,548 (GRCm39) V263A possibly damaging Het
Sntb1 A G 15: 55,655,596 (GRCm39) S207P possibly damaging Het
Sqor A T 2: 122,641,682 (GRCm39) T1S possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,328,602 (GRCm39) probably null Het
Tasor2 A G 13: 3,623,626 (GRCm39) V2108A probably benign Het
Tmod2 A G 9: 75,493,454 (GRCm39) V167A possibly damaging Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Trdn G A 10: 33,344,195 (GRCm39) probably null Het
Trim5 T A 7: 103,927,672 (GRCm39) E156V probably benign Het
Twf1 A G 15: 94,478,890 (GRCm39) S273P probably damaging Het
Xylt1 T C 7: 117,191,164 (GRCm39) V320A possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Pierce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0423:Pierce1 UTSW 2 28,356,036 (GRCm39) splice site probably benign
R0604:Pierce1 UTSW 2 28,356,103 (GRCm39) missense possibly damaging 0.55
R6580:Pierce1 UTSW 2 28,356,062 (GRCm39) missense probably damaging 1.00
R6819:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R7292:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R7351:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R7441:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R7569:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R7620:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R7802:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R7898:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R7959:Pierce1 UTSW 2 28,352,369 (GRCm39) missense probably damaging 1.00
R8300:Pierce1 UTSW 2 28,352,435 (GRCm39) nonsense probably null
R9229:Pierce1 UTSW 2 28,352,390 (GRCm39) missense probably damaging 0.97
R9378:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R9423:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R9450:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
R9599:Pierce1 UTSW 2 28,356,122 (GRCm39) small deletion probably benign
Posted On 2015-04-16