Mutagenetix > Incidental Mutation

Incidental Mutation 'R7441:Pierce1'

576937

Institutional Source

Beutler Lab

Gene Symbol

Pierce1

Ensembl Gene

ENSMUSG00000026831

Gene Name

piercer of microtubule wall 1

Synonyms

1700007K13Rik

MMRRC Submission

045517-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7441 (G1)

Quality Score

178.458

Status

Not validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:DUF4490	35	137	1.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127683

SMART Domains

Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831

Domain	Start	End	E-Value	Type
Pfam:DUF4490	33	122	1.5e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,845 (GRCm39)	S278A	possibly damaging	Het
Adamts20	T	C	15: 94,251,554 (GRCm39)	D411G	probably damaging	Het
Adgrl3	A	G	5: 81,871,987 (GRCm39)	I894V	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Anpep	A	G	7: 79,477,392 (GRCm39)	V725A	possibly damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arhgef2	A	G	3: 88,551,262 (GRCm39)	R808G	probably damaging	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 14,169,070 (GRCm39)	V368M	probably benign	Het
Bahcc1	T	C	11: 120,177,132 (GRCm39)	S2007P	probably damaging	Het
Cyfip2	A	T	11: 46,087,254 (GRCm39)	I1212N	possibly damaging	Het
Dnajc16	A	T	4: 141,491,124 (GRCm39)	D675E	probably damaging	Het
Dram2	T	C	3: 106,462,503 (GRCm39)	F4L	probably damaging	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Efhb	A	T	17: 53,708,549 (GRCm39)	I707N	possibly damaging	Het
Eif2ak4	A	G	2: 118,302,377 (GRCm39)	T1555A	probably benign	Het
Erc1	G	A	6: 119,801,912 (GRCm39)	T35I	possibly damaging	Het
Esr2	C	A	12: 76,188,168 (GRCm39)	M363I	probably benign	Het
Etl4	A	T	2: 20,749,000 (GRCm39)	N446I	possibly damaging	Het
Evpl	T	A	11: 116,113,782 (GRCm39)	K1303*	probably null	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fam186b	A	G	15: 99,177,970 (GRCm39)	L452P	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Gtf3c3	G	A	1: 54,459,607 (GRCm39)	T385M	probably benign	Het
Iqgap2	C	A	13: 95,764,584 (GRCm39)	M1553I	probably benign	Het
Kcnk1	G	T	8: 126,722,307 (GRCm39)	G37C	probably damaging	Het
Kifc3	T	C	8: 95,864,615 (GRCm39)	M32V	probably benign	Het
Krt81	C	A	15: 101,359,251 (GRCm39)	K222N	possibly damaging	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Mybbp1a	T	A	11: 72,342,101 (GRCm39)	V1279E	probably benign	Het
Niban3	A	G	8: 72,052,808 (GRCm39)	D94G	probably benign	Het
Or11g26	A	T	14: 50,752,853 (GRCm39)	Y64F	probably damaging	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Pramel12	A	G	4: 143,145,410 (GRCm39)	Y293C	probably benign	Het
Ptpn18	T	C	1: 34,512,416 (GRCm39)	V407A	probably benign	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Scn11a	C	T	9: 119,587,692 (GRCm39)	V1351I	probably benign	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Spata20	G	A	11: 94,374,867 (GRCm39)	A245V	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Timd5	G	A	11: 46,419,382 (GRCm39)	W66*	probably null	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Zfp426	T	C	9: 20,382,147 (GRCm39)	E280G	possibly damaging	Het
Zfp810	C	A	9: 22,190,568 (GRCm39)	E78*	probably null	Het
Zfp937	GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT	G	2: 150,080,630 (GRCm39)		probably null	Het

Other mutations in Pierce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AAGGTTCATGACTGGCTCC -3'
(R):5'- CAGCAGGCACAGACTTGATC -3'

Sequencing Primer
(F):5'- CTTTTGACCTCAGTAGCCACAG -3'
(R):5'- AGACTTGATCTGGGCTAGTTTCC -3'

Posted On

2019-10-07