Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03356:Potefam3e'

419935

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 #

IGL03356

Quality Score

Status

Chromosome

Chromosomal Location

19779592-19803543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19799463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 304 (I304V)

Ref Sequence

ENSEMBL: ENSMUSP00000096508 (fasta)

Gene Model

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

AlphaFold

D3Z1P8

Predicted Effect

probably benign
Transcript: ENSMUST00000098909
AA Change: I304V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000096508
Gene: ENSMUSG00000096265
AA Change: I304V

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	C	15: 60,791,737 (GRCm39)	M233R	probably benign	Het
Aadat	T	C	8: 60,984,725 (GRCm39)	M256T	probably damaging	Het
Adamts16	T	C	13: 70,901,410 (GRCm39)	N889S	probably benign	Het
Camkk2	A	T	5: 122,881,937 (GRCm39)	I235N	probably damaging	Het
Card6	C	T	15: 5,129,723 (GRCm39)	A558T	probably benign	Het
Ccdc175	T	G	12: 72,186,667 (GRCm39)		probably null	Het
Crot	A	G	5: 9,038,295 (GRCm39)		probably benign	Het
Cyp2c67	A	G	19: 39,628,405 (GRCm39)	S180P	probably damaging	Het
Ddx55	A	G	5: 124,692,816 (GRCm39)	N81S	possibly damaging	Het
Dennd3	C	T	15: 73,440,482 (GRCm39)	T1171M	probably benign	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dpp8	T	A	9: 64,953,069 (GRCm39)	N248K	probably benign	Het
Ganc	T	C	2: 120,265,769 (GRCm39)	I439T	probably benign	Het
Gdpgp1	T	C	7: 79,888,443 (GRCm39)	I158T	possibly damaging	Het
Grm3	T	C	5: 9,562,206 (GRCm39)	D548G	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,514 (GRCm39)		probably benign	Het
Hecw2	A	G	1: 53,966,217 (GRCm39)		probably benign	Het
Hs3st2	A	G	7: 120,992,389 (GRCm39)	E113G	probably damaging	Het
Hspa4	C	A	11: 53,160,627 (GRCm39)	R483L	probably damaging	Het
Ik	C	A	18: 36,889,657 (GRCm39)	S490R	probably damaging	Het
Ldlrad1	G	A	4: 107,072,035 (GRCm39)	V86M	possibly damaging	Het
Mfsd4b1	A	C	10: 39,878,827 (GRCm39)	F357V	probably damaging	Het
Ndufa9	A	G	6: 126,821,813 (GRCm39)	V54A	possibly damaging	Het
Nfe2l2	A	G	2: 75,509,544 (GRCm39)	I92T	probably benign	Het
Oas1a	A	G	5: 121,043,908 (GRCm39)	S75P	probably damaging	Het
Oca2	T	G	7: 56,185,716 (GRCm39)	M814R	probably benign	Het
Phlpp2	A	G	8: 110,662,249 (GRCm39)	T879A	probably benign	Het
Rpe65	A	T	3: 159,321,214 (GRCm39)	Y342F	possibly damaging	Het
Satb2	T	C	1: 56,930,333 (GRCm39)	K230R	probably damaging	Het
Slc4a4	A	G	5: 89,270,342 (GRCm39)	T297A	probably benign	Het
Slpi	T	C	2: 164,198,129 (GRCm39)	T22A	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Synj1	A	G	16: 90,784,280 (GRCm39)	F286S	probably damaging	Het
Tektl1	A	G	10: 78,582,966 (GRCm39)	C473R	possibly damaging	Het
Tigd2	T	A	6: 59,188,690 (GRCm39)	I519K	probably benign	Het
Tyr	G	T	7: 87,141,922 (GRCm39)	L136I	possibly damaging	Het
Vmn1r34	A	T	6: 66,613,970 (GRCm39)	M256K	probably benign	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	Het

Other mutations in Potefam3e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Potefam3e	APN	8	19,799,499 (GRCm39)	splice site	probably benign
IGL02318:Potefam3e	APN	8	19,797,815 (GRCm39)	critical splice donor site	probably null
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

2016-08-02