Mutagenetix > Incidental Mutations

Incidental Mutation 'R6911:Poteg'

539027

Institutional Source

Beutler Lab

Gene Symbol

Poteg

Ensembl Gene

ENSMUSG00000063932

Gene Name

POTE ankyrin domain family, member G

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27447670-27495172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27450298 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 165 (Y165C)

Ref Sequence

ENSEMBL: ENSMUSP00000147760 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081321
AA Change: Y169C

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: Y169C

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

possibly damaging
Transcript: ENSMUST00000209669
AA Change: Y107C

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210427
AA Change: Y165C

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,268,353	I459N	probably damaging	Het
4930407I10Rik	T	A	15: 82,063,867	M655K	probably benign	Het
Amt	G	T	9: 108,301,229		probably null	Het
Anapc7	A	T	5: 122,440,280	K443*	probably null	Het
Apcs	A	G	1: 172,894,185	V198A	probably benign	Het
Atp2a1	A	G	7: 126,456,836	V271A	probably damaging	Het
Cdh20	T	C	1: 104,984,686	I555T	possibly damaging	Het
Cgnl1	T	C	9: 71,656,215	E810G	possibly damaging	Het
Cntnap5c	A	G	17: 57,892,014	D101G	probably damaging	Het
Coq7	T	A	7: 118,510,162	H221L	unknown	Het
Depdc5	A	T	5: 32,924,192	Q566L	probably damaging	Het
Dync1i2	G	A	2: 71,247,102	V233I	probably benign	Het
Erp44	G	T	4: 48,204,268	H298N	probably benign	Het
Fam162a	A	G	16: 36,046,377		probably null	Het
Fancd2	A	G	6: 113,548,385	E274G	probably damaging	Het
Fkbp15	G	T	4: 62,340,290	Q147K	probably damaging	Het
Ganab	T	A	19: 8,907,788		probably null	Het
Gfm1	T	C	3: 67,451,303	V409A	possibly damaging	Het
Gm5346	A	T	8: 43,625,109	F693I	probably benign	Het
Gnptab	G	A	10: 88,431,396	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Grid1	A	T	14: 34,820,228	M1L	probably benign	Het
Helz	C	T	11: 107,619,225	T558I	probably benign	Het
Htra4	A	G	8: 25,025,705	V439A	probably damaging	Het
Kctd17	A	G	15: 78,434,006	E95G	probably damaging	Het
Kif18b	T	C	11: 102,916,380	D43G	probably damaging	Het
Lrpprc	G	A	17: 84,756,283	S550L	possibly damaging	Het
Lrrfip1	T	A	1: 91,114,807	C311*	probably null	Het
Mcoln2	C	T	3: 146,192,256	T44I	probably damaging	Het
Med13l	A	G	5: 118,755,658	T2010A	possibly damaging	Het
Med23	C	T	10: 24,902,181	T803M	probably damaging	Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Myh13	C	T	11: 67,354,927	Q1095*	probably null	Het
Nktr	C	A	9: 121,754,326	Y93*	probably null	Het
Nox3	A	G	17: 3,685,923	S143P	probably damaging	Het
Ntrk2	A	T	13: 58,859,215	E210D	probably damaging	Het
Nup210	G	T	6: 91,030,130	A568E	probably damaging	Het
Olfr1111	T	A	2: 87,149,767	K298I	probably damaging	Het
Olfr1279	A	G	2: 111,306,273	T23A	probably benign	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr1393	A	G	11: 49,280,807	I220V	probably benign	Het
Pdlim5	T	C	3: 142,304,315	I289V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per1	C	T	11: 69,103,257	T443M	probably damaging	Het
Plxna1	A	G	6: 89,320,974	V1774A	probably damaging	Het
Prlr	A	G	15: 10,329,184	T582A	probably benign	Het
Psma5	A	G	3: 108,265,148	E60G	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr2	T	C	13: 11,827,559	N484S	possibly damaging	Het
Sec31a	A	G	5: 100,393,264	I328T	possibly damaging	Het
Slc12a2	G	T	18: 57,919,469	V787L	probably benign	Het
St14	C	T	9: 31,106,785	R177Q	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tom1l1	G	T	11: 90,644,161		probably null	Het
Ttf1	A	G	2: 29,064,851	R76G	probably benign	Het
Ube4a	C	T	9: 44,942,758	E581K	probably damaging	Het
Vmn2r114	A	G	17: 23,291,130	V792A	probably damaging	Het
Wdr11	T	C	7: 129,607,095	I430T	probably benign	Het
Xkr4	T	C	1: 3,671,321	K10E	possibly damaging	Het
Zfp451	T	C	1: 33,803,456		probably benign	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
deduction	UTSW	8	27458655	splice site	probably null
R0034:Poteg	UTSW	8	27462077	splice site	probably benign
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
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
R7604:Poteg	UTSW	8	27458655	splice site	probably null
R7740:Poteg	UTSW	8	27462024	splice site	probably null
R7875:Poteg	UTSW	8	27449914	missense	probably benign	0.04
R7960:Poteg	UTSW	8	27456860	missense	probably benign	0.01
R8265:Poteg	UTSW	8	27494895	missense	possibly damaging	0.53
R8379:Poteg	UTSW	8	27453326	missense	probably benign	0.03
R8414:Poteg	UTSW	8	27448040	missense	probably benign	0.00
R8536:Poteg	UTSW	8	27448020	missense	probably benign	0.14
X0063:Poteg	UTSW	8	27450154	missense	probably damaging	1.00
Z1176:Poteg	UTSW	8	27447954	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- ATCACCTATTGCTTGCTGGC -3'
(R):5'- CTCAAAGTTCGTGTGTCCGAG -3'

Sequencing Primer
(F):5'- ATCTTGAATTTCATGAGCTGACC -3'
(R):5'- AGTTCGTGTGTCCGAGCTCAC -3'

Posted On

2018-11-06