Mutagenetix > Incidental Mutation

Incidental Mutation 'R8086:Potegl'

629634

Institutional Source

Beutler Lab

Gene Symbol

Potegl

Ensembl Gene

ENSMUSG00000026774

Gene Name

POTE ankyrin domain family, member G like

Synonyms

4931423N10Rik

MMRRC Submission

067519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23097488-23157141 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 23130934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028113] [ENSMUST00000028113] [ENSMUST00000028113] [ENSMUST00000114505] [ENSMUST00000114505] [ENSMUST00000114505]

AlphaFold

Q9D4J9

Predicted Effect

probably null
Transcript: ENSMUST00000028113

SMART Domains

Protein: ENSMUSP00000028113
Gene: ENSMUSG00000026774

Domain	Start	End	E-Value	Type
Blast:ANK	62	92	7e-15	BLAST
ANK	96	125	6.71e-2	SMART
ANK	129	158	1.3e1	SMART
ANK	162	191	1.01e-5	SMART
ANK	195	224	2.88e-1	SMART
ANK	228	257	1.93e-2	SMART
ANK	261	290	1.09e3	SMART
low complexity region	341	352	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000028113

SMART Domains

Protein: ENSMUSP00000028113
Gene: ENSMUSG00000026774

Domain	Start	End	E-Value	Type
Blast:ANK	62	92	7e-15	BLAST
ANK	96	125	6.71e-2	SMART
ANK	129	158	1.3e1	SMART
ANK	162	191	1.01e-5	SMART
ANK	195	224	2.88e-1	SMART
ANK	228	257	1.93e-2	SMART
ANK	261	290	1.09e3	SMART
low complexity region	341	352	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000028113

SMART Domains

Protein: ENSMUSP00000028113
Gene: ENSMUSG00000026774

Domain	Start	End	E-Value	Type
Blast:ANK	62	92	7e-15	BLAST
ANK	96	125	6.71e-2	SMART
ANK	129	158	1.3e1	SMART
ANK	162	191	1.01e-5	SMART
ANK	195	224	2.88e-1	SMART
ANK	228	257	1.93e-2	SMART
ANK	261	290	1.09e3	SMART
low complexity region	341	352	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114505

SMART Domains

Protein: ENSMUSP00000110150
Gene: ENSMUSG00000026774

Domain	Start	End	E-Value	Type
Blast:ANK	62	92	4e-15	BLAST
ANK	96	125	6.71e-2	SMART
ANK	137	166	2.88e-1	SMART
ANK	170	199	1.93e-2	SMART
ANK	203	232	1.09e3	SMART
low complexity region	282	293	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114505

SMART Domains

Protein: ENSMUSP00000110150
Gene: ENSMUSG00000026774

Domain	Start	End	E-Value	Type
Blast:ANK	62	92	4e-15	BLAST
ANK	96	125	6.71e-2	SMART
ANK	137	166	2.88e-1	SMART
ANK	170	199	1.93e-2	SMART
ANK	203	232	1.09e3	SMART
low complexity region	282	293	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114505

SMART Domains

Protein: ENSMUSP00000110150
Gene: ENSMUSG00000026774

Domain	Start	End	E-Value	Type
Blast:ANK	62	92	4e-15	BLAST
ANK	96	125	6.71e-2	SMART
ANK	137	166	2.88e-1	SMART
ANK	170	199	1.93e-2	SMART
ANK	203	232	1.09e3	SMART
low complexity region	282	293	N/A	INTRINSIC

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.4%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,808 (GRCm39)	H372L		Het
Abcb1a	A	T	5: 8,724,833 (GRCm39)	T89S	probably benign	Het
Ago1	A	G	4: 126,354,774 (GRCm39)	V146A	probably benign	Het
App	T	C	16: 84,917,428 (GRCm39)	Y72C	unknown	Het
Arhgap20	T	C	9: 51,760,563 (GRCm39)	S805P	probably benign	Het
Bak1	T	A	17: 27,239,911 (GRCm39)	R208S	probably benign	Het
Btnl4	A	C	17: 34,692,976 (GRCm39)		probably null	Het
Cacng7	T	C	7: 3,387,518 (GRCm39)	S134P	probably benign	Het
Capn9	A	T	8: 125,334,692 (GRCm39)		probably null	Het
Cox4i1	T	A	8: 121,400,779 (GRCm39)	M148K	probably damaging	Het
Ctnna1	A	G	18: 35,285,713 (GRCm39)	I20V	possibly damaging	Het
Dennd2c	T	A	3: 103,040,661 (GRCm39)	Y309N	possibly damaging	Het
Dnah14	C	A	1: 181,593,797 (GRCm39)	T3380K	probably damaging	Het
Dnajc3	G	T	14: 119,208,192 (GRCm39)	E276*	probably null	Het
Dock10	C	A	1: 80,481,707 (GRCm39)	C1772F	probably benign	Het
Fank1	A	T	7: 133,454,959 (GRCm39)	E26D	possibly damaging	Het
Fcgbp	G	T	7: 27,813,389 (GRCm39)	C2308F	probably damaging	Het
Fyco1	A	T	9: 123,659,471 (GRCm39)	M235K	probably damaging	Het
Gm7361	C	T	5: 26,465,446 (GRCm39)	R148C	probably damaging	Het
Hinfp	C	T	9: 44,210,286 (GRCm39)	R183Q	probably damaging	Het
Hpd	T	C	5: 123,314,252 (GRCm39)	Y221C	probably benign	Het
Hrnr	A	T	3: 93,230,728 (GRCm39)	H322L	unknown	Het
Il6st	T	A	13: 112,631,094 (GRCm39)		probably null	Het
Impa1	T	C	3: 10,387,988 (GRCm39)	K145E	probably benign	Het
Itga9	A	T	9: 118,679,869 (GRCm39)	M847L	probably benign	Het
Itgb6	A	G	2: 60,480,376 (GRCm39)	V320A	probably damaging	Het
Lrrfip1	T	A	1: 91,043,630 (GRCm39)	H678Q	probably benign	Het
Mettl16	A	G	11: 74,696,091 (GRCm39)	T311A	probably benign	Het
Nefl	T	C	14: 68,323,480 (GRCm39)	Y369H	probably damaging	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Pkd1	A	G	17: 24,800,188 (GRCm39)	Y2983C	probably damaging	Het
Prr5l	C	T	2: 101,571,709 (GRCm39)	E123K	probably benign	Het
Ptprq	A	T	10: 107,482,500 (GRCm39)	Y1024*	probably null	Het
Ramp2	T	A	11: 101,138,762 (GRCm39)	L147Q	probably damaging	Het
Rassf1	C	T	9: 107,435,173 (GRCm39)	R223C	probably benign	Het
Rcbtb2	T	C	14: 73,411,305 (GRCm39)	F357L	probably damaging	Het
Rnf24	A	G	2: 131,145,468 (GRCm39)	V114A	probably benign	Het
Slc7a1	T	G	5: 148,288,899 (GRCm39)	N116T	probably damaging	Het
Sstr2	T	C	11: 113,515,998 (GRCm39)	C306R	probably damaging	Het
Tatdn2	T	C	6: 113,686,482 (GRCm39)	S697P	probably damaging	Het
Tmem67	T	A	4: 12,040,738 (GRCm39)	N935I	probably damaging	Het
Trp73	G	A	4: 154,201,052 (GRCm39)	P4S	unknown	Het
Vmn1r237	T	G	17: 21,534,509 (GRCm39)	D77E	possibly damaging	Het
Vmn1r238	C	T	18: 3,123,250 (GRCm39)	A55T	probably damaging	Het
Vsig10l	C	A	7: 43,114,876 (GRCm39)	A359E	possibly damaging	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb25	A	G	12: 76,395,923 (GRCm39)	V433A	probably benign	Het
Zfp180	C	A	7: 23,805,535 (GRCm39)	D651E	probably benign	Het
Zfp979	T	C	4: 147,698,004 (GRCm39)	D235G	probably damaging	Het

Other mutations in Potegl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Potegl	APN	2	23,120,180 (GRCm39)	missense	probably damaging	0.99
IGL02141:Potegl	APN	2	23,120,212 (GRCm39)	missense	probably damaging	1.00
IGL02377:Potegl	APN	2	23,102,667 (GRCm39)	intron	probably benign
IGL03328:Potegl	APN	2	23,102,817 (GRCm39)	missense	possibly damaging	0.71
R0467:Potegl	UTSW	2	23,102,832 (GRCm39)	missense	possibly damaging	0.85
R0723:Potegl	UTSW	2	23,146,936 (GRCm39)	splice site	probably benign
R1169:Potegl	UTSW	2	23,146,994 (GRCm39)	missense	possibly damaging	0.53
R1507:Potegl	UTSW	2	23,098,086 (GRCm39)	missense	probably damaging	0.98
R4965:Potegl	UTSW	2	23,135,127 (GRCm39)	missense	probably benign	0.40
R5198:Potegl	UTSW	2	23,102,473 (GRCm39)	missense	probably damaging	1.00
R5619:Potegl	UTSW	2	23,147,017 (GRCm39)	critical splice donor site	probably null
R5677:Potegl	UTSW	2	23,102,730 (GRCm39)	missense	probably damaging	0.98
R5715:Potegl	UTSW	2	23,097,989 (GRCm39)	missense	possibly damaging	0.86
R6123:Potegl	UTSW	2	23,120,134 (GRCm39)	missense	possibly damaging	0.93
R6263:Potegl	UTSW	2	23,156,745 (GRCm39)	unclassified	probably benign
R6858:Potegl	UTSW	2	23,102,676 (GRCm39)	missense	possibly damaging	0.51
R7427:Potegl	UTSW	2	23,147,006 (GRCm39)	missense	probably benign
R7577:Potegl	UTSW	2	23,097,837 (GRCm39)	missense	probably benign
R8342:Potegl	UTSW	2	23,147,017 (GRCm39)	critical splice donor site	probably null
R8495:Potegl	UTSW	2	23,097,852 (GRCm39)	missense	probably benign	0.26
R8547:Potegl	UTSW	2	23,120,135 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGGCAATCTACTGGAAAGC -3'
(R):5'- ACAGGTCCTTTTGCACACG -3'

Sequencing Primer
(F):5'- GGCAATCTACTGGAAAGCATTAC -3'
(R):5'- CTTTTGCACACGTGTTACAACAAC -3'

Posted On

2020-06-30