Mutagenetix > Incidental Mutation

Incidental Mutation 'R5594:Poteg'

437699

Institutional Source

Beutler Lab

Gene Symbol

Poteg

Ensembl Gene

ENSMUSG00000063932

Gene Name

POTE ankyrin domain family, member G

Synonyms

4921537P18Rik, 4930456F22Rik

MMRRC Submission

043146-MU

Accession Numbers

Essential gene?

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

Stock #

R5594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27937698-27985200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27937996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 51 (I51F)

Ref Sequence

ENSEMBL: ENSMUSP00000080069 (fasta)

Gene Model

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

AlphaFold

A5H0M4

Predicted Effect

probably benign
Transcript: ENSMUST00000081321
AA Change: I51F

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: I51F

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

probably benign
Transcript: ENSMUST00000210427
AA Change: I47F

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211657

Meta Mutation Damage Score

0.1840

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
4931414P19Rik	A	G	14: 54,822,441 (GRCm39)	Y399H	probably damaging	Het
Abca9	G	T	11: 110,035,688 (GRCm39)	P644Q	probably damaging	Het
Acly	T	C	11: 100,412,946 (GRCm39)		probably null	Het
Adamts14	A	T	10: 61,062,880 (GRCm39)		probably null	Het
Ankdd1a	T	C	9: 65,409,523 (GRCm39)	N471S	probably damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Arhgef28	T	C	13: 98,076,000 (GRCm39)	T1345A	probably benign	Het
Arhgef40	T	A	14: 52,233,614 (GRCm39)	L820H	probably damaging	Het
Atp2b4	A	G	1: 133,658,248 (GRCm39)	V554A	probably damaging	Het
Birc7	G	A	2: 180,575,129 (GRCm39)		probably null	Het
Ccdc80	C	T	16: 44,936,626 (GRCm39)	R684C	probably benign	Het
Cdc25b	C	A	2: 131,033,538 (GRCm39)	P159Q	probably damaging	Het
Cdcp3	T	A	7: 130,841,252 (GRCm39)	D647E	probably benign	Het
Chek2	G	T	5: 111,003,700 (GRCm39)		probably null	Het
Chil6	C	T	3: 106,301,745 (GRCm39)		probably null	Het
Cr2	A	G	1: 194,839,498 (GRCm39)	I643T	probably damaging	Het
Cwf19l2	C	A	9: 3,418,773 (GRCm39)	Q187K	probably benign	Het
Cyth4	A	G	15: 78,491,275 (GRCm39)		probably null	Het
Depdc5	A	G	5: 33,058,834 (GRCm39)	T268A	possibly damaging	Het
Dnah17	G	T	11: 117,934,055 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,570,844 (GRCm39)	Y2210C	possibly damaging	Het
Elmod3	G	A	6: 72,571,799 (GRCm39)		probably benign	Het
Eogt	T	A	6: 97,092,996 (GRCm39)	T394S	probably benign	Het
Evi5	A	G	5: 107,968,317 (GRCm39)	V182A	possibly damaging	Het
Fbxo30	T	C	10: 11,166,223 (GRCm39)	I315T	probably benign	Het
Fibcd1	T	C	2: 31,728,629 (GRCm39)	N76S	probably damaging	Het
Gcc2	G	T	10: 58,123,064 (GRCm39)	R1190M	probably damaging	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Glg1	G	A	8: 111,914,513 (GRCm39)	R424C	probably damaging	Het
Gm11543	T	A	11: 94,719,380 (GRCm39)		noncoding transcript	Het
Hhip	G	T	8: 80,723,492 (GRCm39)	D387E	probably damaging	Het
Hif1a	T	A	12: 73,984,566 (GRCm39)	Y46*	probably null	Het
Hivep3	G	T	4: 119,980,245 (GRCm39)		probably null	Het
Kif13a	T	A	13: 46,906,338 (GRCm39)	E535V	probably damaging	Het
Lrch3	T	C	16: 32,734,554 (GRCm39)	Y15H	probably damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Lyst	T	A	13: 13,933,982 (GRCm39)	V3560E	probably benign	Het
Megf11	T	C	9: 64,593,755 (GRCm39)	F613L	probably damaging	Het
Misp	G	A	10: 79,662,977 (GRCm39)	V465M	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ms4a6c	T	A	19: 11,455,537 (GRCm39)	D115E	probably benign	Het
Msh6	A	G	17: 88,293,497 (GRCm39)	T751A	probably benign	Het
Ntrk3	T	A	7: 78,101,647 (GRCm39)	T429S	probably benign	Het
Oplah	A	C	15: 76,180,837 (GRCm39)	*1289G	probably null	Het
Or14j7	T	A	17: 38,234,502 (GRCm39)	M15K	probably benign	Het
Or7e166	T	C	9: 19,624,302 (GRCm39)	Y60H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhga6	A	T	18: 37,841,581 (GRCm39)	T434S	probably benign	Het
Pign	A	G	1: 105,574,594 (GRCm39)		probably benign	Het
Prrc2c	C	A	1: 162,526,600 (GRCm39)	V204F	unknown	Het
Rhbdd3	T	C	11: 5,055,710 (GRCm39)	S325P	probably damaging	Het
Rit1	T	A	3: 88,636,444 (GRCm39)	L116Q	probably damaging	Het
Rpl22	T	A	4: 152,410,259 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,108,560 (GRCm39)	E1588G	possibly damaging	Het
Sardh	A	G	2: 27,110,735 (GRCm39)	F577S	probably damaging	Het
Slc12a7	T	A	13: 73,933,258 (GRCm39)	D105E	probably benign	Het
Slc22a23	T	A	13: 34,489,240 (GRCm39)	D215V	probably damaging	Het
Slc4a8	C	A	15: 100,693,768 (GRCm39)	P438T	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Stk19	C	T	17: 35,039,538 (GRCm39)		probably benign	Het
Stx5a	T	C	19: 8,725,829 (GRCm39)	I143T	probably damaging	Het
Tep1	T	C	14: 51,067,339 (GRCm39)	H2232R	possibly damaging	Het
Trmt9b	A	G	8: 36,979,452 (GRCm39)	T352A	probably benign	Het
Ttc21b	A	G	2: 66,066,579 (GRCm39)	I358T	probably benign	Het
Tuba8	A	G	6: 121,202,863 (GRCm39)	D392G	possibly damaging	Het
Vmn1r1	G	A	1: 181,984,972 (GRCm39)	P231L	probably damaging	Het
Zfp330	A	G	8: 83,493,941 (GRCm39)	W107R	probably damaging	Het
Zfp715	T	A	7: 42,949,116 (GRCm39)	Q281H	possibly damaging	Het
Zfp9	T	C	6: 118,442,000 (GRCm39)	T221A	probably damaging	Het
Zgpat	T	C	2: 181,007,420 (GRCm39)		probably benign	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
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
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'- AAATGTGGCTGGTGAGGCTC -3'
(R):5'- AGACAGGAAGACAGCCCTTC -3'

Sequencing Primer
(F):5'- TAAAATTGGGCTCCAGGACC -3'
(R):5'- GACAGCCCTTCTCCCACAGTG -3'

Posted On

2016-10-26