Incidental Mutation 'R0604:Pierce1'
ID 55578
Institutional Source Beutler Lab
Gene Symbol Pierce1
Ensembl Gene ENSMUSG00000026831
Gene Name piercer of microtubule wall 1
Synonyms 1700007K13Rik
MMRRC Submission 038793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0604 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 28352013-28356336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28356103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 60 (R60L)
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 possibly damaging
Transcript: ENSMUST00000086370
AA Change: R60L

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000083557
Gene: ENSMUSG00000026831
AA Change: R60L

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: R60L

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831
AA Change: R60L

DomainStartEndE-ValueType
Pfam:DUF4490 33 122 1.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146332
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,775,451 (GRCm39) E302G probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adrb2 G A 18: 62,311,586 (GRCm39) T413I possibly damaging Het
Aqr T C 2: 113,961,085 (GRCm39) K725R probably benign Het
Braf A G 6: 39,600,631 (GRCm39) I662T probably damaging Het
Ccdc178 A G 18: 22,200,500 (GRCm39) S435P probably benign Het
Chd9 A G 8: 91,763,170 (GRCm39) M2332V possibly damaging Het
Clgn T C 8: 84,150,823 (GRCm39) V496A probably benign Het
Dnah17 A C 11: 118,012,297 (GRCm39) S193R probably benign Het
Dntt A G 19: 41,041,588 (GRCm39) E424G probably benign Het
Fam149a A G 8: 45,798,045 (GRCm39) L492P probably damaging Het
Fetub T C 16: 22,754,410 (GRCm39) Y126H possibly damaging Het
Fgfr3 A T 5: 33,890,126 (GRCm39) Y96F probably damaging Het
Gm4952 A G 19: 12,602,036 (GRCm39) E148G probably benign Het
Gucy2g T A 19: 55,191,519 (GRCm39) L977F probably benign Het
Il1r1 T C 1: 40,321,406 (GRCm39) V6A probably benign Het
Itsn2 C A 12: 4,708,189 (GRCm39) Q832K probably benign Het
Lats1 T A 10: 7,588,425 (GRCm39) F1014Y probably damaging Het
Mcc G A 18: 44,606,823 (GRCm39) A536V probably damaging Het
Mtrf1 T C 14: 79,653,327 (GRCm39) V334A possibly damaging Het
Or1j21 T A 2: 36,684,119 (GRCm39) Y290* probably null Het
Or2t46 T A 11: 58,472,174 (GRCm39) M168K probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or4p18 T C 2: 88,232,727 (GRCm39) T184A probably benign Het
Pard6g A G 18: 80,160,423 (GRCm39) S179G probably damaging Het
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Psg27 A T 7: 18,290,997 (GRCm39) V402D probably damaging Het
Rttn A G 18: 88,995,882 (GRCm39) I222V probably damaging Het
Sp9 T A 2: 73,103,982 (GRCm39) S179T probably benign Het
Tbc1d8 T A 1: 39,444,407 (GRCm39) H184L probably damaging Het
Vmn1r69 A G 7: 10,314,581 (GRCm39) V50A probably benign Het
Vmn2r58 A G 7: 41,510,000 (GRCm39) F526L possibly damaging Het
Other mutations in Pierce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02732:Pierce1 APN 2 28,355,192 (GRCm39) missense probably damaging 0.97
R0423:Pierce1 UTSW 2 28,356,036 (GRCm39) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- TTTGACCTCAGTAGCCACAGCCAC -3'
(R):5'- TTCATTGCCTAGCAACAGGACGCC -3'

Sequencing Primer
(F):5'- GTAGCCACAGCCACTTGAGAG -3'
(R):5'- CAGGCACAGACTTGATCTGG -3'
Posted On 2013-07-11