Incidental Mutation 'R7898:Pierce1'
ID 609794
Institutional Source Beutler Lab
Gene Symbol Pierce1
Ensembl Gene ENSMUSG00000026831
Gene Name piercer of microtubule wall 1
Synonyms 1700007K13Rik
MMRRC Submission 045950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7898 (G1)
Quality Score 185.458
Status Not validated
Chromosome 2
Chromosomal Location 28352013-28356336 bp(-) (GRCm39)
Type of Mutation small deletion (14 aa in frame mutation)
DNA Base Change (assembly) TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC to TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC at 28356122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116111 (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 benign
Transcript: ENSMUST00000086370
SMART Domains Protein: ENSMUSP00000083557
Gene: ENSMUSG00000026831

DomainStartEndE-ValueType
Pfam:DUF4490 35 137 1.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127683
SMART Domains Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831

DomainStartEndE-ValueType
Pfam:DUF4490 33 122 1.5e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,255,275 (GRCm39) probably null Het
Afg2a T G 3: 37,474,620 (GRCm39) M44R probably benign Het
Ankef1 C A 2: 136,395,618 (GRCm39) N649K probably benign Het
Arl5b T A 2: 15,079,869 (GRCm39) S147T probably damaging Het
Arnt2 A T 7: 83,918,155 (GRCm39) probably null Het
Ash1l A G 3: 88,890,932 (GRCm39) E937G possibly damaging Het
Asxl1 T G 2: 153,241,854 (GRCm39) S802R possibly damaging Het
Cacna1h T A 17: 25,611,250 (GRCm39) H516L probably damaging Het
Cad A G 5: 31,218,829 (GRCm39) Y550C probably damaging Het
Cdo1 A G 18: 46,861,157 (GRCm39) I18T probably benign Het
Cfap251 A T 5: 123,460,517 (GRCm39) I1160F probably damaging Het
Chd2 A G 7: 73,169,223 (GRCm39) probably null Het
Dbf4 A G 5: 8,458,232 (GRCm39) probably null Het
Dcdc2a A T 13: 25,286,361 (GRCm39) R132W possibly damaging Het
Dnah10 T C 5: 124,859,425 (GRCm39) S2131P probably damaging Het
Eef2k A G 7: 120,494,441 (GRCm39) Y599C probably damaging Het
Eno2 C T 6: 124,744,225 (GRCm39) probably null Het
Fam124b T A 1: 80,191,512 (GRCm39) probably benign Het
Fezf2 A G 14: 12,342,701 (GRCm38) I388T possibly damaging Het
Gbp11 T C 5: 105,472,798 (GRCm39) N542S probably benign Het
Gdpd1 T A 11: 86,932,639 (GRCm39) I229F probably damaging Het
Gria1 T A 11: 57,133,591 (GRCm39) V490E probably damaging Het
Grm8 G A 6: 27,762,422 (GRCm39) R268C probably damaging Het
Hectd4 T A 5: 121,469,880 (GRCm39) S2592T probably benign Het
Herpud1 C T 8: 95,118,828 (GRCm39) T194I probably benign Het
Hspa1b T C 17: 35,177,167 (GRCm39) T273A probably benign Het
Iftap T A 2: 101,416,747 (GRCm39) K67N probably benign Het
Ighm T A 12: 113,384,873 (GRCm39) K327* probably null Het
Igkv3-4 A T 6: 70,649,297 (GRCm39) I99F probably damaging Het
Iqca1l T C 5: 24,758,643 (GRCm39) E117G probably damaging Het
Isl2 C A 9: 55,449,723 (GRCm39) S97R probably benign Het
Klhl12 A T 1: 134,386,219 (GRCm39) I4F probably benign Het
Lgalsl2 G A 7: 5,362,441 (GRCm39) R24H probably benign Het
Lrp2 T C 2: 69,271,710 (GRCm39) E4074G probably benign Het
Mcm3ap A G 10: 76,342,441 (GRCm39) N1645D probably damaging Het
Mettl23 T C 11: 116,736,679 (GRCm39) probably benign Het
Mettl24 A G 10: 40,686,478 (GRCm39) E285G probably benign Het
Mis18bp1 A G 12: 65,196,246 (GRCm39) L506P probably benign Het
Mup18 G T 4: 61,590,925 (GRCm39) probably null Het
Myom1 T C 17: 71,352,747 (GRCm39) L357P probably benign Het
Nkx2-9 G A 12: 56,659,031 (GRCm39) A61V probably benign Het
Or52n5 C T 7: 104,588,573 (GRCm39) A280V probably damaging Het
Pbx1 A T 1: 168,012,616 (GRCm39) M340K probably benign Het
Pcdhb17 A T 18: 37,618,233 (GRCm39) N8Y probably benign Het
Pex13 C A 11: 23,600,929 (GRCm39) probably null Het
Plxnb1 A G 9: 108,943,408 (GRCm39) R1884G probably damaging Het
Polq T A 16: 36,865,245 (GRCm39) V699E probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prr14l A T 5: 32,987,310 (GRCm39) H728Q probably benign Het
Prss12 T C 3: 123,300,145 (GRCm39) V752A possibly damaging Het
Prss56 A G 1: 87,111,921 (GRCm39) S51G probably benign Het
Pwp2 G A 10: 78,009,240 (GRCm39) R854W probably damaging Het
Rhobtb2 C T 14: 70,033,746 (GRCm39) C493Y probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rusf1 C A 7: 127,897,177 (GRCm39) A27S probably benign Het
Scap A G 9: 110,213,811 (GRCm39) N1258S possibly damaging Het
Sec31a C T 5: 100,547,336 (GRCm39) G218R probably damaging Het
Siglec15 A T 18: 78,086,914 (GRCm39) M315K probably benign Het
Slc17a6 G A 7: 51,308,573 (GRCm39) probably null Het
Smchd1 T C 17: 71,684,813 (GRCm39) probably null Het
Spag4 A T 2: 155,911,244 (GRCm39) D393V probably damaging Het
Sulf1 A G 1: 12,875,518 (GRCm39) N176S probably damaging Het
Tmem9 T A 1: 135,955,125 (GRCm39) probably null Het
Tnpo3 T C 6: 29,565,223 (GRCm39) I577V probably benign Het
Tti1 A C 2: 157,835,390 (GRCm39) I956S probably benign Het
Wdr81 T C 11: 75,344,725 (GRCm39) R181G probably benign Het
Zfp462 T A 4: 55,012,995 (GRCm39) C1654S probably damaging Het
Zfp74 A T 7: 29,635,380 (GRCm39) C109* probably null Het
Znrf4 A G 17: 56,818,681 (GRCm39) C209R probably damaging Het
Zzef1 T G 11: 72,687,373 (GRCm39) L84R probably 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
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
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'- AGTAGCCACAGCCACTTGAG -3'
(R):5'- ATCAGGTGACTTCATTGCCTAGC -3'

Sequencing Primer
(F):5'- ACAGCCACTTGAGAGTTCTC -3'
(R):5'- TTGCCTAGCAACAGGACG -3'
Posted On 2019-12-20