Mutagenetix > Incidental Mutation

Incidental Mutation 'R7044:Poteg'

547213

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: 0.074) question?

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27447670-27495172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27449895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 27 (C27R)

Ref Sequence

ENSEMBL: ENSMUSP00000147714 (fasta)

Gene Model

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

AlphaFold

A5H0M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081321
AA Change: C89R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: C89R

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 damaging
Transcript: ENSMUST00000209669
AA Change: C27R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210427
AA Change: C85R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	T	1: 37,612,280	D1169N	possibly damaging	Het
Ankrd6	T	A	4: 32,815,260	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,928,677	S513P	possibly damaging	Het
Cdhr2	A	T	13: 54,733,321	K1066*	probably null	Het
Ckap5	T	C	2: 91,577,601	I824T	probably benign	Het
Ctbp2	T	C	7: 133,015,102	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,470,494		probably benign	Het
Eya1	T	A	1: 14,231,410		probably null	Het
Fam105a	A	G	15: 27,657,235		probably benign	Het
Fam207a	T	C	10: 77,514,392	D35G	possibly damaging	Het
Fat4	G	C	3: 39,010,810	A4972P	probably benign	Het
Fat4	C	T	3: 39,010,811	A4972V	probably benign	Het
Fbxl8	T	A	8: 105,267,015	M1K	probably null	Het
Glyat	T	C	19: 12,650,265	S75P	probably benign	Het
Gm3543	T	A	14: 41,980,066	I154F	probably damaging	Het
Gm4565	T	A	7: 22,583,370	M8L	probably benign	Het
Gpr179	T	C	11: 97,349,790	Q269R	probably benign	Het
Hfe2	C	A	3: 96,527,474	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,538,901	H483R	possibly damaging	Het
Il25	G	A	14: 54,933,158	A63T	probably benign	Het
Krt27	T	A	11: 99,346,814	N366I	probably benign	Het
Mfge8	A	G	7: 79,142,520	V219A	probably benign	Het
Nrbp1	T	C	5: 31,249,946	V373A	probably damaging	Het
Olfr1186	A	G	2: 88,526,486	N301S	probably benign	Het
Pcdh20	A	G	14: 88,469,171	I231T	probably damaging	Het
Pfkp	A	G	13: 6,581,567	W151R	probably damaging	Het
Pikfyve	T	C	1: 65,246,854	I1084T	probably benign	Het
Ptprz1	G	A	6: 23,044,346	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,312,802	D358G	probably damaging	Het
Snapc4	A	G	2: 26,369,953	S495P	probably damaging	Het
Surf6	A	G	2: 26,899,356	I123T	probably damaging	Het
Sybu	A	T	15: 44,677,695	S324T	possibly damaging	Het
Trim3	A	T	7: 105,618,214	S319R	probably damaging	Het
Trmt11	A	G	10: 30,590,934	F72L	probably benign	Het
Tsks	C	T	7: 44,943,792	R61W	probably damaging	Het
Ube2k	T	C	5: 65,581,429	V36A	possibly damaging	Het
Ube3a	T	C	7: 59,288,413	V688A	probably damaging	Het
Vegfc	A	G	8: 54,157,045	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 12,041,834	R179Q	probably benign	Het
Vmn2r97	T	A	17: 18,914,367	F16I	probably benign	Het
Zfp451	A	T	1: 33,802,167		probably benign	Het
Zfp600	C	T	4: 146,195,322	Q187*	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
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
R6911:Poteg	UTSW	8	27450298	missense	probably damaging	0.97
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
R8742:Poteg	UTSW	8	27494929	missense	possibly damaging	0.96
R8856:Poteg	UTSW	8	27448005	start codon destroyed	probably null	0.56
R9299:Poteg	UTSW	8	27450259	missense	probably benign	0.35
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'- TTGTCCCTAGCAGGAAGGAG -3'
(R):5'- GGAGGCAAAGTTCTTTCCATTG -3'

Sequencing Primer
(F):5'- TCCCTAGCAGGAAGGAGATCTATAC -3'
(R):5'- GGCAAAGTTCTTTCCATTGTAAGCG -3'

Posted On

2019-05-13