Mutagenetix > Incidental Mutation

Incidental Mutation 'R8530:Potefam3a'

658992

Institutional Source

Beutler Lab

Gene Symbol

Potefam3a

Ensembl Gene

ENSMUSG00000074449

Gene Name

POTE ankyrin domain family member 3A

Synonyms

Poteb, Gm15319, Pote3a

MMRRC Submission

068500-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8530 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20078078-20103616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20356984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 242 (N242S)

Ref Sequence

ENSEMBL: ENSMUSP00000081059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084046]

AlphaFold

E9Q637

Predicted Effect

probably benign
Transcript: ENSMUST00000084046
AA Change: N242S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000081059
Gene: ENSMUSG00000074449
AA Change: N242S

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	C	3: 137,774,586 (GRCm39)	E1258D	probably damaging	Het
4930407I10Rik	T	A	15: 81,949,587 (GRCm39)	H1161Q	probably damaging	Het
Adam20	A	G	8: 41,249,071 (GRCm39)	S394G	probably damaging	Het
Akr1c12	A	T	13: 4,320,160 (GRCm39)	F310Y	probably benign	Het
Ank	G	A	15: 27,544,490 (GRCm39)	A84T	probably benign	Het
Bcas1	A	T	2: 170,229,868 (GRCm39)	I244K	probably damaging	Het
Cacna1a	T	C	8: 85,339,043 (GRCm39)		probably null	Het
Car14	T	C	3: 95,807,670 (GRCm39)	H79R	probably benign	Het
Cd163	T	C	6: 124,295,860 (GRCm39)	Y735H	probably damaging	Het
Cdh11	G	A	8: 103,391,387 (GRCm39)	P283L	probably benign	Het
Cfi	C	T	3: 129,644,382 (GRCm39)	T126I	possibly damaging	Het
Col6a4	T	A	9: 105,957,704 (GRCm39)	H40L	probably benign	Het
Dbh	A	G	2: 27,058,318 (GRCm39)	D162G	probably damaging	Het
Dnah14	A	G	1: 181,492,511 (GRCm39)	K1657R	probably damaging	Het
E2f7	T	A	10: 110,614,859 (GRCm39)	V521D	probably benign	Het
Eif3g	A	C	9: 20,809,026 (GRCm39)	S93A	possibly damaging	Het
Fa2h	T	C	8: 112,082,788 (GRCm39)	E143G	probably benign	Het
Foxc1	C	A	13: 31,991,771 (GRCm39)	P194Q	probably benign	Het
Fyco1	A	G	9: 123,669,605 (GRCm39)		probably null	Het
Gabrb3	T	C	7: 57,461,819 (GRCm39)	S256P	probably damaging	Het
Gcc1	C	A	6: 28,420,730 (GRCm39)	D196Y	probably damaging	Het
Herc1	T	A	9: 66,325,910 (GRCm39)	D1461E	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hps6	A	T	19: 45,991,959 (GRCm39)		probably benign	Het
Macc1	A	T	12: 119,409,474 (GRCm39)	I81F	probably damaging	Het
Man2c1	G	T	9: 57,038,922 (GRCm39)	D111Y	probably damaging	Het
Mast3	A	T	8: 71,240,877 (GRCm39)	I240N	possibly damaging	Het
Matn1	A	T	4: 130,677,447 (GRCm39)	K219*	probably null	Het
Nup210	C	G	6: 91,053,627 (GRCm39)	A297P	possibly damaging	Het
Or5d43	A	T	2: 88,105,154 (GRCm39)	L80I	probably damaging	Het
Or6d12	T	A	6: 116,493,530 (GRCm39)	I264K	probably damaging	Het
Pcare	T	C	17: 72,059,101 (GRCm39)	Y192C	probably damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Phactr3	A	G	2: 177,925,819 (GRCm39)	N360D	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Qtrt2	C	A	16: 43,689,407 (GRCm39)	G197V	probably damaging	Het
Rabep1	A	T	11: 70,810,068 (GRCm39)	L500F	probably damaging	Het
Rhof	T	A	5: 123,257,581 (GRCm39)	D183V	probably damaging	Het
Shprh	T	C	10: 11,027,678 (GRCm39)	V95A	probably benign	Het
Spata31d1b	A	T	13: 59,864,964 (GRCm39)	N704I	unknown	Het
Tas1r2	A	T	4: 139,389,460 (GRCm39)	Y452F	probably benign	Het
Tc2n	A	T	12: 101,617,444 (GRCm39)	F325Y	possibly damaging	Het
Tiam2	G	T	17: 3,501,087 (GRCm39)	V909L	probably benign	Het
Tlx1	A	T	19: 45,139,524 (GRCm39)	Y57F	probably benign	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn2r58	A	T	7: 41,513,576 (GRCm39)	W356R	probably damaging	Het
Wars1	G	A	12: 108,848,818 (GRCm39)	A43V	probably damaging	Het
Wrn	A	T	8: 33,770,852 (GRCm39)	I694N	possibly damaging	Het
Zfp120	A	G	2: 149,959,168 (GRCm39)	Y385H	probably benign	Het

Other mutations in Potefam3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7440:Potefam3a	UTSW	8	20,356,948 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGATTGCTGACTGCTCTCC -3'
(R):5'- GCTCTTACAATGCCACATGC -3'

Sequencing Primer
(F):5'- ACAAGATCGGGCATGCTC -3'
(R):5'- AATGCCACATGCTTTTTCCATATGG -3'

Posted On

2021-01-18