Mutagenetix > Incidental Mutations

Incidental Mutation 'R4493:Poteg'

330834

Institutional Source

Beutler Lab

Gene Symbol

Poteg

Ensembl Gene

ENSMUSG00000063932

Gene Name

POTE ankyrin domain family, member G

Synonyms

MMRRC Submission

041748-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4493 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27447670-27495172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27480097 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 316 (V316A)

Ref Sequence

ENSEMBL: ENSMUSP00000147714 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081321
AA Change: V378A

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: V378A

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: V316A

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210427
AA Change: V374A

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1b	T	C	2: 24,652,938	T1301A	probably damaging	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Ccdc146	T	C	5: 21,303,193	E619G	possibly damaging	Het
Cmya5	T	C	13: 93,094,065	E1505G	probably benign	Het
Cngb3	C	A	4: 19,367,778	P229Q	probably damaging	Het
Ctnna2	A	G	6: 76,981,848	V461A	probably damaging	Het
D430041D05Rik	T	C	2: 104,256,339	D764G	probably benign	Het
Dgki	T	C	6: 36,974,861		probably benign	Het
Dhx36	A	T	3: 62,488,504		probably benign	Het
Gcn1l1	T	C	5: 115,594,144	I1006T	probably benign	Het
Glt8d2	T	A	10: 82,664,713	M20L	possibly damaging	Het
Greb1	C	A	12: 16,698,610	G1122V	probably benign	Het
Hmcn1	A	T	1: 150,701,899	I2037N	probably damaging	Het
Hspa4l	A	G	3: 40,768,002	I340V	possibly damaging	Het
Itpr3	A	G	17: 27,104,612	K1204E	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Maats1	T	C	16: 38,341,768	T4A	probably benign	Het
Mcph1	T	A	8: 18,631,736	C296*	probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Naga	A	G	15: 82,332,514	F259S	probably damaging	Het
Nes	A	G	3: 87,976,813	E793G	probably damaging	Het
Nfkb2	A	G	19: 46,308,439	D316G	probably damaging	Het
Pcdha4	A	T	18: 36,954,591	Y609F	possibly damaging	Het
Pgam1	C	T	19: 41,915,776	A104V	possibly damaging	Het
Piezo2	T	C	18: 63,114,063	I525V	probably damaging	Het
Pold1	A	G	7: 44,537,708	V683A	probably damaging	Het
Ppih	A	T	4: 119,310,845	N156K	probably damaging	Het
Prep	T	C	10: 45,120,819	F398L	probably benign	Het
Prlhr	A	T	19: 60,467,081	M349K	probably benign	Het
Rtp4	A	T	16: 23,610,077	H30L	probably benign	Het
Stkld1	A	G	2: 26,946,626	N268S	probably benign	Het
Syt6	A	G	3: 103,585,630	E66G	probably damaging	Het
Tas2r129	A	G	6: 132,951,354	I85V	probably benign	Het
Tma16	C	T	8: 66,484,171		probably null	Het
Tprn	T	C	2: 25,268,892	S643P	probably damaging	Het
Trrap	T	C	5: 144,831,048	V2605A	probably benign	Het
Vmn1r230	T	A	17: 20,846,601	N17K	probably benign	Het
Xkrx	T	C	X: 134,150,996	N302S	possibly damaging	Het
Zfp946	T	A	17: 22,451,086		probably null	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
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
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
X0063:Poteg	UTSW	8	27450154	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATATGACTGGAATTGTATTGGC -3'
(R):5'- CGTGCACGCACAAATTCTC -3'

Sequencing Primer
(F):5'- ACTGGAATTGTATTGGCATAGAAATG -3'
(R):5'- TGAAAACATAGATGCTACTCCTATCG -3'

Posted On

2015-07-21