Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:Pierce1'

570549

Institutional Source

Beutler Lab

Gene Symbol

Pierce1

Ensembl Gene

ENSMUSG00000026831

Gene Name

piercer of microtubule wall 1

Synonyms

1700007K13Rik

MMRRC Submission

045437-MU

Accession Numbers

Essential gene?

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

Stock #

R7351 (G1)

Quality Score

110.474

Status

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: 98.9%

Validation Efficiency

98% (56/57)

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
1700006A11Rik	C	A	3: 124,206,159 (GRCm39)	G343V	probably damaging	Het
Adamts6	G	A	13: 104,526,620 (GRCm39)	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,631,286 (GRCm39)	L566F	possibly damaging	Het
AU040320	A	G	4: 126,710,237 (GRCm39)	N328D	probably damaging	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Brk1	T	C	6: 113,592,742 (GRCm39)	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,266,581 (GRCm39)	F176I	probably damaging	Het
Cfap97d1	A	G	11: 101,882,331 (GRCm39)	E163G	probably benign	Het
Clec12b	A	G	6: 129,356,874 (GRCm39)		probably null	Het
Ddx42	A	G	11: 106,138,508 (GRCm39)	N769S	probably benign	Het
Drc7	A	G	8: 95,785,135 (GRCm39)	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145 (GRCm39)	I486N	probably damaging	Het
Gmip	A	G	8: 70,270,034 (GRCm39)	D679G	probably benign	Het
Gml2	T	C	15: 74,693,225 (GRCm39)	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,576,094 (GRCm39)	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,601,854 (GRCm39)	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,543,640 (GRCm39)	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,110,431 (GRCm39)	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,278,486 (GRCm39)	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,482 (GRCm39)	R163H	probably damaging	Het
Mxd1	A	G	6: 86,628,448 (GRCm39)	S151P	probably damaging	Het
Or10ak16	T	C	4: 118,751,033 (GRCm39)	V251A	probably benign	Het
Or4a73	C	T	2: 89,420,857 (GRCm39)	G201S	probably benign	Het
Or5m10b	G	T	2: 85,694,415 (GRCm39)		probably benign	Het
Or8b3	C	T	9: 38,314,739 (GRCm39)	L190F	probably damaging	Het
Plcg2	A	G	8: 118,317,049 (GRCm39)	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,340,672 (GRCm39)	F335I	probably benign	Het
Psd	G	T	19: 46,310,869 (GRCm39)	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,573,107 (GRCm39)	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,879 (GRCm39)	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048 (GRCm39)	E157A	probably damaging	Het
Rnf145	G	A	11: 44,439,623 (GRCm39)	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102 (GRCm39)	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,024,785 (GRCm39)	T245A	probably benign	Het
Serpina10	A	T	12: 103,595,194 (GRCm39)	F8L	probably benign	Het
Slc16a8	T	A	15: 79,137,841 (GRCm39)	D56V	probably damaging	Het
Spag9	A	T	11: 93,983,802 (GRCm39)	E726D	probably benign	Het
Spg11	A	G	2: 121,900,412 (GRCm39)	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,441,855 (GRCm39)	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,196,755 (GRCm39)	V27E	probably benign	Het
Taf1c	A	G	8: 120,325,739 (GRCm39)	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,412,240 (GRCm39)	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,559,900 (GRCm39)	W24*	probably null	Het
Tmc8	T	C	11: 117,674,654 (GRCm39)	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716 (GRCm39)	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,598,030 (GRCm39)	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,770,274 (GRCm39)	A2685V	unknown	Het
Usp15	A	T	10: 122,968,904 (GRCm39)	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,693,739 (GRCm39)	N363S	probably benign	Het
Vwa3a	T	A	7: 120,375,559 (GRCm39)	I423N	probably damaging	Het
Zfp592	T	C	7: 80,691,439 (GRCm39)	V1206A	probably benign	Het
Zfp866	A	T	8: 70,218,547 (GRCm39)	Y358N	probably 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
R6819:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R7292: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'- AAAGGTTCATGACTGGCTCC -3'
(R):5'- AGCAGGCACAGACTTGATC -3'

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

Posted On

2019-09-13