Mutagenetix > Incidental Mutation

Incidental Mutation 'R7740:Poteg'

628554

Institutional Source

Beutler Lab

Gene Symbol

Poteg

Ensembl Gene

ENSMUSG00000063932

Gene Name

POTE ankyrin domain family, member G

Synonyms

4921537P18Rik, 4930456F22Rik

MMRRC Submission

045796-MU

Accession Numbers

Essential gene?

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

Stock #

R7740 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27937698-27985200 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 27952052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147714 (fasta)

Gene Model

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

AlphaFold

A5H0M4

Predicted Effect

probably null
Transcript: ENSMUST00000081321

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932

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 null
Transcript: ENSMUST00000081321

SMART Domains

Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932

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 null
Transcript: ENSMUST00000209669

Predicted Effect

probably null
Transcript: ENSMUST00000209669

Predicted Effect

probably benign
Transcript: ENSMUST00000210427

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,370 (GRCm39)	Q163*	probably null	Het
Anxa6	T	A	11: 54,898,725 (GRCm39)	T150S	probably damaging	Het
Bpifb6	T	A	2: 153,744,929 (GRCm39)	L45Q	probably damaging	Het
Brwd1	T	C	16: 95,828,568 (GRCm39)	D1121G	probably damaging	Het
C1ql3	A	G	2: 13,015,483 (GRCm39)	I59T	possibly damaging	Het
Ccdc80	A	G	16: 44,924,888 (GRCm39)	H674R	possibly damaging	Het
Cdhr1	T	G	14: 36,811,337 (GRCm39)	E258A	probably damaging	Het
Ces2g	T	A	8: 105,692,962 (GRCm39)	F333L	probably damaging	Het
Chn2	C	T	6: 54,277,156 (GRCm39)	T445I	probably benign	Het
Cpe	T	C	8: 65,050,562 (GRCm39)	D382G	possibly damaging	Het
Crb1	T	A	1: 139,165,428 (GRCm39)	I960L	probably benign	Het
Cyp4a14	A	T	4: 115,350,806 (GRCm39)	V156D	probably damaging	Het
Ddx23	A	T	15: 98,556,315 (GRCm39)	M1K	probably null	Het
Dnajc7	T	C	11: 100,482,387 (GRCm39)	I202V	probably benign	Het
Dsn1	T	A	2: 156,839,636 (GRCm39)	D255V	possibly damaging	Het
Dvl3	A	T	16: 20,346,000 (GRCm39)		probably null	Het
Epm2a	A	G	10: 11,266,684 (GRCm39)	D143G	possibly damaging	Het
Erc1	T	A	6: 119,738,149 (GRCm39)	M565L	probably benign	Het
Fancm	T	C	12: 65,173,321 (GRCm39)	C1878R	possibly damaging	Het
Gapvd1	T	C	2: 34,590,834 (GRCm39)	E946G	probably damaging	Het
Gm9195	C	T	14: 72,678,113 (GRCm39)	R2352K	possibly damaging	Het
Greb1	C	A	12: 16,790,122 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,362,678 (GRCm39)	A44V	possibly damaging	Het
Herc4	A	G	10: 63,105,457 (GRCm39)	Y146C	probably benign	Het
Herc6	T	G	6: 57,636,802 (GRCm39)		probably null	Het
Hivep2	G	T	10: 14,003,414 (GRCm39)	G4V	probably damaging	Het
Hsdl2	G	T	4: 59,612,724 (GRCm39)	G425V	probably damaging	Het
Igkv1-110	C	T	6: 68,247,974 (GRCm39)	L28F	probably benign	Het
Il21r	T	A	7: 125,231,727 (GRCm39)	L385Q	possibly damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Krtap5-2	C	T	7: 141,728,699 (GRCm39)	C149Y	unknown	Het
Lingo2	T	A	4: 35,709,248 (GRCm39)	N244I	probably damaging	Het
Lrrk2	C	T	15: 91,651,527 (GRCm39)	R1728C	probably damaging	Het
Macf1	A	G	4: 123,578,096 (GRCm39)		probably benign	Het
Malrd1	G	A	2: 15,619,026 (GRCm39)	V297I	not run	Het
Mars1	T	A	10: 127,136,444 (GRCm39)	E460D	probably benign	Het
Nr1i3	A	G	1: 171,044,396 (GRCm39)	I174V	probably benign	Het
Odf2	C	T	2: 29,820,636 (GRCm39)	T814M	probably damaging	Het
Or10q1	T	C	19: 13,727,328 (GRCm39)	V286A	probably benign	Het
Or4k1	T	C	14: 50,377,803 (GRCm39)	M98V	probably benign	Het
Or4k52	A	T	2: 111,610,793 (GRCm39)	I43F	possibly damaging	Het
Pcdhga8	T	C	18: 37,860,470 (GRCm39)	S509P	probably benign	Het
Pdzd2	A	G	15: 12,374,102 (GRCm39)	L2011S	probably benign	Het
Pole	T	A	5: 110,478,907 (GRCm39)	S1930T	probably benign	Het
Ptprk	T	A	10: 28,372,920 (GRCm39)	C724S	probably damaging	Het
Rabgap1l	T	C	1: 160,509,673 (GRCm39)	E468G	probably benign	Het
Rbm12b1	G	T	4: 12,145,954 (GRCm39)	R642L	probably benign	Het
Relch	T	C	1: 105,658,986 (GRCm39)	V914A	probably damaging	Het
S1pr4	A	T	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Sim2	A	G	16: 93,915,819 (GRCm39)	I261V	probably benign	Het
Slc22a12	C	A	19: 6,587,199 (GRCm39)	A448S	probably benign	Het
Slc4a2	A	G	5: 24,636,666 (GRCm39)		probably null	Het
Slc6a7	T	C	18: 61,133,495 (GRCm39)	E567G	possibly damaging	Het
St6gal1	T	C	16: 23,139,785 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,920,546 (GRCm39)	K550R	probably benign	Het
Tekt1	T	A	11: 72,250,544 (GRCm39)	T51S	probably benign	Het
Tm9sf4	T	A	2: 153,050,663 (GRCm39)	V640E	probably damaging	Het
Tnfsf8	G	T	4: 63,752,683 (GRCm39)	H127Q	possibly damaging	Het
Tomm20	A	G	8: 127,666,633 (GRCm39)	L80S	probably damaging	Het
Top2a	T	C	11: 98,884,640 (GRCm39)	D1526G	probably benign	Het
Trmt1l	T	C	1: 151,316,639 (GRCm39)	V200A	possibly damaging	Het
Trpa1	A	G	1: 14,982,625 (GRCm39)	V77A	possibly damaging	Het
Vmn2r12	A	T	5: 109,239,615 (GRCm39)	V316D	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Zfp2	T	C	11: 50,791,605 (GRCm39)	H146R	probably damaging	Het
Zfp52	T	C	17: 21,781,252 (GRCm39)	S367P	probably damaging	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
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
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'- TCACTGCACATGGTGGTTTAC -3'
(R):5'- GAAGACAGCAGCTTTTGAACTG -3'

Sequencing Primer
(F):5'- ACTGCACATGGTGGTTTACATTTC -3'
(R):5'- CAGCAGCTTTTGAACTGTGAATCC -3'

Posted On

2020-05-04