Mutagenetix > Incidental Mutation

Incidental Mutation 'R6819:Pierce1'

540719

Institutional Source

Beutler Lab

Gene Symbol

Pierce1

Ensembl Gene

ENSMUSG00000026831

Gene Name

piercer of microtubule wall 1

Synonyms

1700007K13Rik

MMRRC Submission

044931-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6819 (G1)

Quality Score

145.461

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	A	17: 24,506,767 (GRCm39)	V1196L	probably benign	Het
Adal	T	A	2: 120,978,794 (GRCm39)	I138N	probably damaging	Het
Arfgap1	T	C	2: 180,613,478 (GRCm39)		probably null	Het
Boc	T	C	16: 44,313,188 (GRCm39)	T559A	probably damaging	Het
Brip1	A	G	11: 86,001,267 (GRCm39)	V723A	possibly damaging	Het
Cnot10	A	C	9: 114,444,123 (GRCm39)	I424S	probably benign	Het
Cntnap4	T	G	8: 113,529,858 (GRCm39)	S689A	probably benign	Het
Cuzd1	A	T	7: 130,911,460 (GRCm39)	N506K	possibly damaging	Het
Dctn3	T	A	4: 41,715,259 (GRCm39)	T158S	possibly damaging	Het
Dnai2	A	G	11: 114,635,917 (GRCm39)	I301V	probably benign	Het
Ebpl	G	T	14: 61,578,695 (GRCm39)	P180Q	probably damaging	Het
Epha5	T	A	5: 84,254,649 (GRCm39)	Y489F	probably damaging	Het
Frmd8	T	C	19: 5,915,208 (GRCm39)	N232S	probably benign	Het
Fuca1	T	C	4: 135,660,267 (GRCm39)	Y262H	probably damaging	Het
Gfy	T	C	7: 44,826,975 (GRCm39)	I374V	possibly damaging	Het
Glg1	G	A	8: 111,914,513 (GRCm39)	R424C	probably damaging	Het
Ica1	G	T	6: 8,742,288 (GRCm39)	T115K	probably damaging	Het
Igf2bp2	T	C	16: 21,879,586 (GRCm39)	E511G	probably damaging	Het
Jag2	C	A	12: 112,874,161 (GRCm39)	R998L	probably damaging	Het
Kcnv1	G	T	15: 44,972,513 (GRCm39)	L457I	probably damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Ms4a8a	T	A	19: 11,053,743 (GRCm39)	H121L	probably damaging	Het
Muc5b	T	A	7: 141,412,600 (GRCm39)	S1849T	unknown	Het
Myo10	T	C	15: 25,781,496 (GRCm39)	V997A	possibly damaging	Het
Or10g3b	A	G	14: 52,587,156 (GRCm39)	Y116H	probably damaging	Het
Or10g9b	T	A	9: 39,917,844 (GRCm39)	M134L	probably benign	Het
Or8g54	T	A	9: 39,706,905 (GRCm39)	I78N	probably benign	Het
Pate2	T	A	9: 35,581,801 (GRCm39)	C32S	probably damaging	Het
Per1	G	T	11: 68,992,284 (GRCm39)	Q179H	probably damaging	Het
Rbp2	T	A	9: 98,391,614 (GRCm39)	V130E	probably damaging	Het
Rictor	T	A	15: 6,825,517 (GRCm39)		probably null	Het
Rundc3a	A	T	11: 102,289,287 (GRCm39)	R153*	probably null	Het
Scrn3	C	T	2: 73,149,826 (GRCm39)	A174V	probably damaging	Het
Serpina10	T	A	12: 103,594,619 (GRCm39)	Q200L	probably benign	Het
Slc25a51	A	T	4: 45,399,365 (GRCm39)	I275N	possibly damaging	Het
Spast	C	T	17: 74,674,281 (GRCm39)	H238Y	possibly damaging	Het
Speg	A	T	1: 75,368,456 (GRCm39)	I775F	possibly damaging	Het
Ssh1	G	T	5: 114,084,851 (GRCm39)	T463K	probably benign	Het
Tm2d3	A	G	7: 65,347,526 (GRCm39)	E151G	probably damaging	Het
Uggt2	A	G	14: 119,263,847 (GRCm39)	I1061T	probably damaging	Het
Unc79	T	G	12: 103,108,267 (GRCm39)	S1941A	probably benign	Het
Vcan	T	C	13: 89,853,244 (GRCm39)	D572G	probably benign	Het
Vmn2r16	T	G	5: 109,488,412 (GRCm39)	S428R	probably benign	Het
Zeb1	A	G	18: 5,591,917 (GRCm39)	D3G	probably damaging	Het
Zfp352	A	G	4: 90,112,936 (GRCm39)	T359A	probably benign	Het
Zfp987	C	A	4: 146,062,315 (GRCm39)	D582E	probably benign	Het
Zg16	G	A	7: 126,649,692 (GRCm39)	P90S	possibly damaging	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
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'- TCAGTAGCCACAGCCACTTG -3'
(R):5'- AGGTGACTTCATTGCCTAGCAAC -3'

Sequencing Primer
(F):5'- ACAGCCACTTGAGAGTTCTC -3'
(R):5'- TTGCCTAGCAACAGGACG -3'

Posted On

2018-11-16