Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00161:Potefam3e'

1410

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Potefam3e

Ensembl Gene

ENSMUSG00000096265

Gene Name

POTE ankyrin domain family member 3E

Synonyms

4930467E23Rik, Pote3e, OTTMUSG00000018948, ENSMUSG00000074453, TSAP

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00161

Quality Score

Status

Chromosome

Chromosomal Location

19779592-19803543 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 19799499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098909]

AlphaFold

D3Z1P8

Predicted Effect

probably benign
Transcript: ENSMUST00000098909

SMART Domains

Protein: ENSMUSP00000096508
Gene: ENSMUSG00000096265

Domain	Start	End	E-Value	Type
ANK	84	113	9.41e-6	SMART
ANK	117	146	1.48e-3	SMART
ANK	150	179	6.76e-7	SMART
ANK	183	212	1.4e1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,375,719 (GRCm39)	V1932E	probably damaging	Het
Alg3	A	G	16: 20,426,608 (GRCm39)	V211A	probably damaging	Het
Bsn	T	C	9: 107,992,309 (GRCm39)	T1148A	probably benign	Het
Dmbt1	G	T	7: 130,711,357 (GRCm39)	D1538Y	probably damaging	Het
Fbxl20	C	T	11: 97,981,500 (GRCm39)	G396D	possibly damaging	Het
Gsto2	A	G	19: 47,863,406 (GRCm39)	D94G	probably damaging	Het
Igf2r	T	C	17: 12,932,877 (GRCm39)	I882V	probably benign	Het
Ltbp1	C	T	17: 75,617,147 (GRCm39)		probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Nlrp1b	A	C	11: 71,072,007 (GRCm39)		probably benign	Het
Notch3	A	T	17: 32,377,088 (GRCm39)	C272*	probably null	Het
Or4c123	A	G	2: 89,126,799 (GRCm39)	C272R	probably benign	Het
Or8g26	A	G	9: 39,096,388 (GRCm39)	K305E	possibly damaging	Het
Pard3	A	G	8: 128,086,299 (GRCm39)		probably benign	Het
Pcsk4	A	G	10: 80,158,657 (GRCm39)	Y532H	probably damaging	Het
Pkd1l1	A	G	11: 8,879,353 (GRCm39)		probably null	Het
Prex1	A	G	2: 166,480,321 (GRCm39)	Y140H	probably damaging	Het
Ptpdc1	C	T	13: 48,740,534 (GRCm39)	R238Q	possibly damaging	Het
Rdx	A	G	9: 51,997,646 (GRCm39)	D540G	probably damaging	Het
Rnase10	T	G	14: 51,247,238 (GRCm39)	D168E	possibly damaging	Het
Slc30a5	A	C	13: 100,943,174 (GRCm39)	D561E	probably damaging	Het
Spag1	C	T	15: 36,195,562 (GRCm39)	R252*	probably null	Het
Spata31g1	A	T	4: 42,973,982 (GRCm39)	H1105L	probably benign	Het
Stox1	T	C	10: 62,503,692 (GRCm39)	E121G	probably damaging	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tenm2	C	T	11: 36,097,726 (GRCm39)		probably benign	Het
Vmn1r64	T	C	7: 5,886,827 (GRCm39)	T239A	probably damaging	Het

Other mutations in Potefam3e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Potefam3e	APN	8	19,797,815 (GRCm39)	critical splice donor site	probably null
IGL03356:Potefam3e	APN	8	19,799,463 (GRCm39)	missense	probably benign	0.03
R5538:Potefam3e	UTSW	8	19,799,430 (GRCm39)	critical splice acceptor site	probably null
R6790:Potefam3e	UTSW	8	19,779,801 (GRCm39)	missense	probably benign
R8235:Potefam3e	UTSW	8	19,799,476 (GRCm39)	missense	probably benign	0.01
R8671:Potefam3e	UTSW	8	19,784,775 (GRCm39)	nonsense	probably null
R9470:Potefam3e	UTSW	8	19,797,809 (GRCm39)	missense	probably benign	0.18

Posted On

2011-07-12