Mutagenetix > Incidental Mutation

Incidental Mutation 'R2847:Poteg'

251710

Institutional Source

Beutler Lab

Gene Symbol

Poteg

Ensembl Gene

ENSMUSG00000063932

Gene Name

POTE ankyrin domain family, member G

Synonyms

4921537P18Rik, 4930456F22Rik

MMRRC Submission

040440-MU

Accession Numbers

Essential gene?

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

Stock #

R2847 (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 27971704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 406 (N406I)

Ref Sequence

ENSEMBL: ENSMUSP00000147760 (fasta)

Gene Model

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

AlphaFold

A5H0M4

Predicted Effect

probably benign
Transcript: ENSMUST00000081321
AA Change: N410I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: N410I

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
AA Change: N348I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000210427
AA Change: N406I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930510E17Rik	T	C	9: 53,176,089 (GRCm39)		noncoding transcript	Het
Abca13	T	C	11: 9,244,584 (GRCm39)	V2149A	possibly damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Bub3	C	T	7: 131,172,613 (GRCm39)	T326M	possibly damaging	Het
Cd151	T	C	7: 141,049,463 (GRCm39)	Y57H	probably damaging	Het
Cib4	T	C	5: 30,645,932 (GRCm39)	N112S	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Defb39	C	T	8: 19,102,909 (GRCm39)	R62H	possibly damaging	Het
Dennd2b	T	C	7: 109,124,544 (GRCm39)	Q1099R	probably damaging	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Efcab12	A	G	6: 115,788,072 (GRCm39)	I630T	probably damaging	Het
Erc2	T	C	14: 27,762,445 (GRCm39)	V736A	probably damaging	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fndc9	C	T	11: 46,128,868 (GRCm39)	A129V	probably damaging	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,151,317 (GRCm39)		probably benign	Het
Gba2	T	C	4: 43,568,000 (GRCm39)		probably null	Het
Gna12	T	A	5: 140,771,348 (GRCm39)	D61V	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Grin2b	C	A	6: 135,717,951 (GRCm39)	V714L	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Itgb6	T	C	2: 60,430,879 (GRCm39)	T772A	probably damaging	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Mme	T	A	3: 63,252,620 (GRCm39)	N421K	possibly damaging	Het
Mmp1b	C	T	9: 7,370,763 (GRCm39)	V331I	probably benign	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nav1	G	C	1: 135,378,382 (GRCm39)		probably null	Het
Nln	A	G	13: 104,161,533 (GRCm39)	M679T	probably damaging	Het
Or1n1b	A	G	2: 36,780,536 (GRCm39)	L108P	probably damaging	Het
Or8b53	C	T	9: 38,667,332 (GRCm39)	T116I	possibly damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pax7	T	C	4: 139,506,954 (GRCm39)	D361G	possibly damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Plekhh2	G	T	17: 84,905,394 (GRCm39)	R1096L	probably damaging	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Robo4	C	T	9: 37,315,772 (GRCm39)	R342*	probably null	Het
Sec23ip	G	A	7: 128,355,797 (GRCm39)	V307I	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Tas1r3	T	A	4: 155,944,659 (GRCm39)	Q854L	probably benign	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trpm4	A	G	7: 44,960,022 (GRCm39)	F771S	probably damaging	Het
Tstd3	A	T	4: 21,759,375 (GRCm39)	F132L	possibly damaging	Het
Ulk2	T	C	11: 61,715,555 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,180,404 (GRCm39)	Y3080H	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vmn2r60	A	T	7: 41,785,857 (GRCm39)	H220L	probably benign	Het
Vps13a	A	G	19: 16,680,963 (GRCm39)	S1078P	probably damaging	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zdhhc22	T	A	12: 87,035,336 (GRCm39)	T39S	probably benign	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	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
R0971:Poteg	UTSW	8	27,937,967 (GRCm39)	missense	probably damaging	1.00
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
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'- AGACCCAGCGCCTTATATACTTAG -3'
(R):5'- GCTGCTCCAAGCTATTTATGAGC -3'

Sequencing Primer
(F):5'- GTTGAAATTCTTAATCAGAAAGGAGC -3'
(R):5'- GATGTCCTGGAACTCACTATGTGAC -3'

Posted On

2014-12-04