Mutagenetix > Incidental Mutations

Incidental Mutation 'R0034:Poteg'

212432

Institutional Source

Beutler Lab

Gene Symbol

Poteg

Ensembl Gene

ENSMUSG00000063932

Gene Name

POTE ankyrin domain family, member G

Synonyms

MMRRC Submission

038328-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0034 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

27447670-27495172 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 27462077 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081321] [ENSMUST00000209669] [ENSMUST00000210427]

Predicted Effect

probably benign
Transcript: ENSMUST00000081321

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932

Domain	Start	End	E-Value	Type
ANK	80	109	1.46e-2	SMART
ANK	113	142	7.89e1	SMART
ANK	146	175	3.1e-6	SMART
ANK	179	208	2.81e-4	SMART
ANK	212	241	8.62e1	SMART
ANK	245	273	1.23e3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209669

Predicted Effect

probably benign
Transcript: ENSMUST00000210427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211657

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,359	H90Q	probably damaging	Het
4930402H24Rik	T	C	2: 130,736,572	H664R	probably damaging	Het
9430038I01Rik	C	T	7: 137,387,592	R60Q	probably benign	Het
Angpt4	C	T	2: 151,929,391	T209I	probably benign	Het
Ap3b1	T	C	13: 94,479,885		probably benign	Het
Aplp1	A	C	7: 30,444,442	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846	H844L	probably damaging	Het
Cd14	A	G	18: 36,726,235	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,928,399	V135I	probably damaging	Het
Cep152	C	T	2: 125,583,893	A851T	probably benign	Het
Cfap74	C	T	4: 155,460,887		probably benign	Het
Col28a1	T	A	6: 8,175,708	I47L	probably benign	Het
Eef1d	T	C	15: 75,902,959	T200A	probably benign	Het
Faap100	A	T	11: 120,372,147	M795K	probably benign	Het
Gabpb1	C	T	2: 126,658,534	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,201,484	M381I	probably benign	Het
Gm5114	A	G	7: 39,408,858	S446P	possibly damaging	Het
Gm7271	A	G	5: 76,516,530	I155M	probably damaging	Het
Gnb1	T	A	4: 155,551,689	N155K	probably benign	Het
Haspin	G	A	11: 73,138,218	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,925,172	L745P	probably damaging	Het
Kcng3	T	A	17: 83,588,383		probably benign	Het
Kif15	A	T	9: 122,999,285	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,168,963		probably benign	Het
Kif9	G	A	9: 110,519,611	C738Y	probably benign	Het
Kifc2	G	T	15: 76,667,100	C613F	probably benign	Het
Klf12	A	G	14: 99,987,429		probably null	Het
Lrp1	A	T	10: 127,545,651	I3826N	probably benign	Het
Map2k4	A	G	11: 65,719,611		probably benign	Het
Myo7b	A	G	18: 31,960,860	S2006P	probably damaging	Het
Olfr631	T	C	7: 103,929,501	V226A	probably benign	Het
Pax4	T	C	6: 28,442,449	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,322,084	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,504,009	G768S	probably benign	Het
Plb1	G	T	5: 32,273,113	G138V	probably benign	Het
Poln	A	C	5: 34,115,418	V398G	possibly damaging	Het
Rapgef1	C	A	2: 29,724,768		probably benign	Het
Rbm43	A	T	2: 51,925,710	D166E	probably benign	Het
Rhobtb2	T	C	14: 69,788,688	T602A	probably benign	Het
Samd3	G	A	10: 26,271,500		probably benign	Het
Sbno2	A	C	10: 80,058,340		probably benign	Het
Sec1	A	G	7: 45,679,335	V96A	probably benign	Het
Senp7	A	C	16: 56,153,570	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,885,677	V301A	probably damaging	Het
Sgpl1	A	T	10: 61,102,613	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,802,253	I66T	probably benign	Het
Stra6	G	A	9: 58,151,469		probably null	Het
Tfrc	T	A	16: 32,615,396		probably null	Het
Tmem30b	T	C	12: 73,546,005	Y112C	probably damaging	Het
Trap1	A	T	16: 4,069,030		probably benign	Het
Trpc1	A	G	9: 95,749,761	S43P	probably damaging	Het
Tsku	T	C	7: 98,352,663	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,345,310	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,580,811		probably benign	Het
Vmn2r1	T	A	3: 64,090,014	W364R	probably damaging	Het
Wnk2	G	T	13: 49,068,080	T377K	possibly damaging	Het
Zscan20	T	C	4: 128,585,662	N1012S	probably damaging	Het

Other mutations in Poteg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Poteg	APN	8	27473620	splice site	probably benign
IGL01964:Poteg	APN	8	27448008	missense	probably damaging	0.99
IGL03017:Poteg	APN	8	27462041	missense	probably benign	0.01
R0069:Poteg	UTSW	8	27447821	missense	probably benign	0.33
R0069:Poteg	UTSW	8	27447821	missense	probably benign	0.33
R0522:Poteg	UTSW	8	27449958	missense	possibly damaging	0.95
R0634:Poteg	UTSW	8	27473587	missense	probably benign	0.20
R0971:Poteg	UTSW	8	27447939	missense	probably damaging	1.00
R1019:Poteg	UTSW	8	27447824	missense	possibly damaging	0.46
R1450:Poteg	UTSW	8	27447843	missense	probably benign	0.27
R1603:Poteg	UTSW	8	27448005	start codon destroyed	probably null	0.56
R1650:Poteg	UTSW	8	27463785	missense	probably benign	0.04
R1656:Poteg	UTSW	8	27495032	intron	probably benign
R1818:Poteg	UTSW	8	27450167	nonsense	probably null
R2048:Poteg	UTSW	8	27456746	missense	probably benign	0.39
R2847:Poteg	UTSW	8	27481676	missense	probably benign	0.10
R2848:Poteg	UTSW	8	27481676	missense	probably benign	0.10
R2849:Poteg	UTSW	8	27481676	missense	probably benign	0.10
R4493:Poteg	UTSW	8	27480097	missense	possibly damaging	0.68
R4967:Poteg	UTSW	8	27494981	intron	probably benign
R5051:Poteg	UTSW	8	27453329	missense	possibly damaging	0.78
R5149:Poteg	UTSW	8	27481643	missense	possibly damaging	0.93
R5579:Poteg	UTSW	8	27448037	missense	probably damaging	1.00
R5594:Poteg	UTSW	8	27447968	missense	probably benign	0.28
R5723:Poteg	UTSW	8	27449992	critical splice donor site	probably null
R5804:Poteg	UTSW	8	27456798	missense	probably damaging	1.00
R6685:Poteg	UTSW	8	27447905	missense	possibly damaging	0.91
R6911:Poteg	UTSW	8	27450298	missense	probably damaging	0.97
R7044:Poteg	UTSW	8	27449895	missense	probably damaging	1.00
R7096:Poteg	UTSW	8	27473567	missense	probably benign	0.00
R7174:Poteg	UTSW	8	27453277	missense	probably benign	0.36
R7287:Poteg	UTSW	8	27453344	missense	probably null	0.44
R7560:Poteg	UTSW	8	27494960	missense	probably benign
R7875:Poteg	UTSW	8	27449914	missense	probably benign	0.04
R7958:Poteg	UTSW	8	27449914	missense	probably benign	0.04
X0063:Poteg	UTSW	8	27450154	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTGATTCCCACAGACCCTTTC -3'
(R):5'- AGACTGCATTCTGTTGAACCCACTG -3'

Sequencing Primer
(F):5'- CCCAATGAACGTCCTTCTAGC -3'
(R):5'- ccttcttttcctcctcctcc -3'

Posted On

2014-07-02