Mutagenetix > Incidental Mutation

Incidental Mutation 'R0971:Poteg'

81506

Institutional Source

Beutler Lab

Gene Symbol

Poteg

Ensembl Gene

ENSMUSG00000063932

Gene Name

POTE ankyrin domain family, member G

Synonyms

4921537P18Rik, 4930456F22Rik

MMRRC Submission

039100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27937698-27985200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27937967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 41 (Y41F)

Ref Sequence

ENSEMBL: ENSMUSP00000080069 (fasta)

Gene Model

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

AlphaFold

A5H0M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081321
AA Change: Y41F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: Y41F

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

possibly damaging
Transcript: ENSMUST00000210427
AA Change: Y37F

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211657

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	G	A	7: 80,742,327 (GRCm39)	E715K	possibly damaging	Het
Cbr2	T	A	11: 120,621,259 (GRCm39)	I147F	probably benign	Het
Chdh	A	G	14: 29,755,620 (GRCm39)	N302S	probably damaging	Het
Cog5	T	A	12: 31,969,677 (GRCm39)	H732Q	probably benign	Het
Glyr1	GCTGCC	G	16: 4,839,209 (GRCm39)		probably null	Het
Itln1	C	A	1: 171,356,772 (GRCm39)	V236F	probably damaging	Het
Itpr1	A	G	6: 108,326,590 (GRCm39)	E104G	possibly damaging	Het
Kcnh8	T	A	17: 53,032,927 (GRCm39)	F71L	probably benign	Het
Kif14	T	C	1: 136,447,392 (GRCm39)	M1399T	probably damaging	Het
Kif21a	A	G	15: 90,824,784 (GRCm39)	V1324A	possibly damaging	Het
Klhdc7b	A	T	15: 89,271,257 (GRCm39)	H713L	possibly damaging	Het
Opn5	C	T	17: 42,922,218 (GRCm39)		probably null	Het
Prb1b	T	A	6: 132,290,618 (GRCm39)	D27V	unknown	Het
Psd2	C	A	18: 36,112,839 (GRCm39)	T178K	probably damaging	Het
Ptch1	T	C	13: 63,687,657 (GRCm39)	T374A	probably benign	Het
Rgma	T	C	7: 73,041,246 (GRCm39)		probably null	Het
Tmem120a	A	G	5: 135,764,958 (GRCm39)	L272P	probably damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vmn1r40	A	T	6: 89,691,272 (GRCm39)	I30F	probably benign	Het
Vps33b	A	G	7: 79,937,647 (GRCm39)	D465G	possibly damaging	Het
Zan	G	A	5: 137,432,325 (GRCm39)	A2324V	unknown	Het

Other mutations in Poteg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Poteg	APN	8	27,963,648 (GRCm39)	splice site	probably benign
IGL01964:Poteg	APN	8	27,938,036 (GRCm39)	missense	probably damaging	0.99
IGL03017:Poteg	APN	8	27,952,069 (GRCm39)	missense	probably benign	0.01
deduction	UTSW	8	27,948,683 (GRCm39)	splice site	probably null
R0034:Poteg	UTSW	8	27,952,105 (GRCm39)	splice site	probably benign
R0069:Poteg	UTSW	8	27,937,849 (GRCm39)	missense	probably benign	0.33
R0069:Poteg	UTSW	8	27,937,849 (GRCm39)	missense	probably benign	0.33
R0522:Poteg	UTSW	8	27,939,986 (GRCm39)	missense	possibly damaging	0.95
R0634:Poteg	UTSW	8	27,963,615 (GRCm39)	missense	probably benign	0.20
R1019:Poteg	UTSW	8	27,937,852 (GRCm39)	missense	possibly damaging	0.46
R1450:Poteg	UTSW	8	27,937,871 (GRCm39)	missense	probably benign	0.27
R1603:Poteg	UTSW	8	27,938,033 (GRCm39)	start codon destroyed	probably null	0.56
R1650:Poteg	UTSW	8	27,953,813 (GRCm39)	missense	probably benign	0.04
R1656:Poteg	UTSW	8	27,985,060 (GRCm39)	intron	probably benign
R1818:Poteg	UTSW	8	27,940,195 (GRCm39)	nonsense	probably null
R2048:Poteg	UTSW	8	27,946,774 (GRCm39)	missense	probably benign	0.39
R2847:Poteg	UTSW	8	27,971,704 (GRCm39)	missense	probably benign	0.10
R2848:Poteg	UTSW	8	27,971,704 (GRCm39)	missense	probably benign	0.10
R2849:Poteg	UTSW	8	27,971,704 (GRCm39)	missense	probably benign	0.10
R4493:Poteg	UTSW	8	27,970,125 (GRCm39)	missense	possibly damaging	0.68
R4967:Poteg	UTSW	8	27,985,009 (GRCm39)	intron	probably benign
R5051:Poteg	UTSW	8	27,943,357 (GRCm39)	missense	possibly damaging	0.78
R5149:Poteg	UTSW	8	27,971,671 (GRCm39)	missense	possibly damaging	0.93
R5579:Poteg	UTSW	8	27,938,065 (GRCm39)	missense	probably damaging	1.00
R5594:Poteg	UTSW	8	27,937,996 (GRCm39)	missense	probably benign	0.28
R5723:Poteg	UTSW	8	27,940,020 (GRCm39)	critical splice donor site	probably null
R5804:Poteg	UTSW	8	27,946,826 (GRCm39)	missense	probably damaging	1.00
R6685:Poteg	UTSW	8	27,937,933 (GRCm39)	missense	possibly damaging	0.91
R6911:Poteg	UTSW	8	27,940,326 (GRCm39)	missense	probably damaging	0.97
R7044:Poteg	UTSW	8	27,939,923 (GRCm39)	missense	probably damaging	1.00
R7096:Poteg	UTSW	8	27,963,595 (GRCm39)	missense	probably benign	0.00
R7174:Poteg	UTSW	8	27,943,305 (GRCm39)	missense	probably benign	0.36
R7287:Poteg	UTSW	8	27,943,372 (GRCm39)	missense	probably null	0.44
R7560:Poteg	UTSW	8	27,984,988 (GRCm39)	missense	probably benign
R7604:Poteg	UTSW	8	27,948,683 (GRCm39)	splice site	probably null
R7740:Poteg	UTSW	8	27,952,052 (GRCm39)	splice site	probably null
R7875:Poteg	UTSW	8	27,939,942 (GRCm39)	missense	probably benign	0.04
R7960:Poteg	UTSW	8	27,946,888 (GRCm39)	missense	probably benign	0.01
R8265:Poteg	UTSW	8	27,984,923 (GRCm39)	missense	possibly damaging	0.53
R8379:Poteg	UTSW	8	27,943,354 (GRCm39)	missense	probably benign	0.03
R8414:Poteg	UTSW	8	27,938,068 (GRCm39)	missense	probably benign	0.00
R8536:Poteg	UTSW	8	27,938,048 (GRCm39)	missense	probably benign	0.14
R8742:Poteg	UTSW	8	27,984,957 (GRCm39)	missense	possibly damaging	0.96
R8856:Poteg	UTSW	8	27,938,033 (GRCm39)	start codon destroyed	probably null	0.56
R9299:Poteg	UTSW	8	27,940,287 (GRCm39)	missense	probably benign	0.35
X0063:Poteg	UTSW	8	27,940,182 (GRCm39)	missense	probably damaging	1.00
Z1176:Poteg	UTSW	8	27,937,982 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TGGCAACTGTGCCTCTACCAAC -3'
(R):5'- AGAAGACAGGAAGACAGCCCTTCTC -3'

Sequencing Primer
(F):5'- GTGCCTCTACCAACTGTATAAGG -3'
(R):5'- TCTCCCACAGTGGCCTG -3'

Posted On

2013-11-07