Mutagenetix > Incidental Mutation

Incidental Mutation 'R1507:Potegl'

167971

Institutional Source

Beutler Lab

Gene Symbol

Potegl

Ensembl Gene

ENSMUSG00000026774

Gene Name

POTE ankyrin domain family, member G like

Synonyms

4931423N10Rik

MMRRC Submission

039555-MU

Accession Numbers

Essential gene?

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

Stock #

R1507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23097488-23157141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23098086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 88 (Y88C)

Ref Sequence

ENSEMBL: ENSMUSP00000028113 (fasta)

Gene Model

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

AlphaFold

Q9D4J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028113
AA Change: Y88C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028113
Gene: ENSMUSG00000026774
AA Change: Y88C

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 benign
Transcript: ENSMUST00000114505
AA Change: Y88C

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110150
Gene: ENSMUSG00000026774
AA Change: Y88C

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

noncoding transcript
Transcript: ENSMUST00000117205

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	T	G	2: 154,391,539 (GRCm39)	V102G	probably benign	Het
Adgrv1	T	C	13: 81,620,699 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,987,441 (GRCm39)	D2908E	probably damaging	Het
Aox1	A	G	1: 58,143,610 (GRCm39)	M1243V	probably benign	Het
Apobec2	T	C	17: 48,730,003 (GRCm39)	D221G	possibly damaging	Het
Bcas1	T	C	2: 170,208,348 (GRCm39)	D472G	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,437 (GRCm39)		noncoding transcript	Het
Cd209d	G	T	8: 3,928,453 (GRCm39)	Q11K	possibly damaging	Het
Cdc14a	G	A	3: 116,087,646 (GRCm39)	T455I	possibly damaging	Het
Cep120	A	G	18: 53,830,729 (GRCm39)	S843P	probably damaging	Het
Cped1	A	T	6: 22,122,260 (GRCm39)	H380L	probably damaging	Het
Derl2	A	T	11: 70,898,171 (GRCm39)	W233R	probably benign	Het
Drd5	A	T	5: 38,478,065 (GRCm39)	I353F	probably damaging	Het
E330034G19Rik	A	T	14: 24,357,055 (GRCm39)	Q197L	possibly damaging	Het
Edil3	T	A	13: 89,279,831 (GRCm39)	S170T	probably damaging	Het
Gldc	T	A	19: 30,096,038 (GRCm39)	T658S	probably damaging	Het
Gpr146	A	G	5: 139,379,124 (GRCm39)	M309V	probably benign	Het
H2bc18	A	G	3: 96,177,189 (GRCm39)	Y41C	probably damaging	Het
Hexim2	T	A	11: 103,029,147 (GRCm39)	C66*	probably null	Het
Htr2a	T	C	14: 74,943,419 (GRCm39)	V333A	probably damaging	Het
Igdcc4	A	G	9: 65,041,026 (GRCm39)	E1065G	probably damaging	Het
Katnip	T	A	7: 125,465,524 (GRCm39)	D1325E	probably damaging	Het
Kcnk9	T	A	15: 72,384,083 (GRCm39)	E365V	possibly damaging	Het
Kif28	T	A	1: 179,563,571 (GRCm39)	N135I	probably damaging	Het
Kmt2a	A	T	9: 44,729,700 (GRCm39)		probably benign	Het
Lamb2	A	T	9: 108,367,581 (GRCm39)	I1788F	probably damaging	Het
Lsm6	G	A	8: 79,539,608 (GRCm39)	R31*	probably null	Het
Mical3	T	A	6: 121,019,199 (GRCm39)	T8S	probably benign	Het
Ncapg2	T	C	12: 116,424,186 (GRCm39)	F1123S	probably benign	Het
Nprl2	A	G	9: 107,420,191 (GRCm39)	D30G	probably benign	Het
Or51l4	C	T	7: 103,404,228 (GRCm39)	R188H	probably benign	Het
Or5ac24	A	T	16: 59,165,856 (GRCm39)	D69E	probably damaging	Het
Or8b51	A	T	9: 38,569,310 (GRCm39)	I126N	probably damaging	Het
Parvg	T	A	15: 84,214,359 (GRCm39)	V181E	probably damaging	Het
Pfas	T	C	11: 68,880,860 (GRCm39)	T1106A	probably benign	Het
Plekhh1	A	T	12: 79,126,224 (GRCm39)	T1310S	probably damaging	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef2	A	T	3: 78,988,600 (GRCm39)		probably benign	Het
Rfx3	G	T	19: 27,745,913 (GRCm39)	T731K	probably benign	Het
Rnf31	A	T	14: 55,836,439 (GRCm39)	K634*	probably null	Het
Scp2	CACTTTAATAATACTTT	CACTTT	4: 107,944,209 (GRCm39)		probably null	Het
Set	A	G	2: 29,959,106 (GRCm39)	H101R	probably damaging	Het
Slc30a6	G	T	17: 74,715,857 (GRCm39)	V106F	probably damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Spaca3	G	A	11: 80,753,983 (GRCm39)	R40H	probably damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Tenm3	A	G	8: 48,740,857 (GRCm39)	S1209P	probably benign	Het
Tmprss11g	T	C	5: 86,647,470 (GRCm39)	T23A	probably benign	Het
Topors	A	G	4: 40,261,829 (GRCm39)	V485A	probably damaging	Het
Tpgs1	T	A	10: 79,511,620 (GRCm39)	L254Q	probably damaging	Het
Traf3	A	C	12: 111,227,194 (GRCm39)	T336P	probably benign	Het
Ttn	T	A	2: 76,710,934 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 37,981,114 (GRCm39)	R2388W	probably damaging	Het
Unc13a	A	G	8: 72,110,910 (GRCm39)	S434P	probably benign	Het
Usp33	A	G	3: 152,080,400 (GRCm39)	I510M	possibly damaging	Het
Vmn1r65	C	A	7: 6,012,108 (GRCm39)	G42V	probably benign	Het
Xab2	A	G	8: 3,666,031 (GRCm39)	L262S	possibly damaging	Het
Yap1	A	T	9: 7,953,141 (GRCm39)		probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfp609	A	G	9: 65,702,059 (GRCm39)	Y198H	possibly damaging	Het
Zfp629	T	A	7: 127,211,033 (GRCm39)	K259*	probably null	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
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
R8086:Potegl	UTSW	2	23,130,934 (GRCm39)	critical splice acceptor site	probably null
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'- GGAGAGACTTGGCAAGCCTATGAC -3'
(R):5'- TGCTGATCACAGGTGCTGAAACG -3'

Sequencing Primer
(F):5'- CTTGGCAAGCCTATGACAAGTG -3'
(R):5'- CAGGTGCTGAAACGGTCAC -3'

Posted On

2014-04-13